LDB3 missense variants in ExAC

LDB3 gene summary
LDB3 variants in DCM

The table below lists the LDB3 missense variants found in the ExAC population database. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




No. Genomic coord.✝ Variant (CDS)▼ Variant (Protein) Variant Type▼ ExAC frequency▼Populations*
1. 88439193 c.163G>A p.V55I missense 0.00722224●●●●●●
2. 88478529 c.1903G>A p.V635I missense 0.00698874●●●●●●
3. 88451715 c.752A>G p.K251R missense 0.00664512●●●●●●
4. 88441223 c.352G>A p.V118M missense 0.00462955●●●●●●
5. 88439895 c.302C>T p.P101L missense 0.00314283●●●●●●
6. 88439888 c.295C>T p.P99S missense 0.00080127●●●●●●
7. 88441337 c.466G>A p.A156T missense 0.00067197●●●●●●
8. 88476312 c.1460G>A p.R487H missense 0.00065289●●●●●●
9. 88469687 c.1111G>A p.A371T missense 0.00063088●●●●●●
10. 88476387 c.1535A>C p.Q512P missense 0.00062910●●●●●●
11. 88476524 c.1672A>G p.I558V missense 0.00060161●●●●●●
12. 88441437 c.566C>T p.S189L missense 0.00057078●●●●●●
13. 88466442 c.1051A>G p.T351A missense 0.00051044●●●●●●
14. 88441535 c.664G>A p.A222T missense 0.00040299●●●●●●
15. 88476446 c.1594G>C p.A532P missense 0.00038602●●●●●●
16. 88486007 c.2092G>A p.A698T missense 0.00030864●●●●●●
17. 88441364 c.493C>T p.R165W missense 0.00025954●●●●●●
18. 88476414 c.1562A>G p.Y521C missense 0.00021605●●●●●●
19. 88466433 c.1042G>A p.A348T missense 0.00019926●●●●●●
20. 88469801 c.1225C>A p.Q409K missense 0.00019528●●●●●●
21. 88451678 c.715G>A p.V239I missense 0.00018140●●●●●●
22. 88441431 c.560C>T p.P187L missense 0.00017658●●●●●●
23. 88485932 c.2017G>A p.D673N missense 0.00017304●●●●●●
24. 88469681 c.1105A>G p.S369G missense 0.00017023●●●●●●
25. 88476458 c.1606G>A p.V536I missense 0.00013574●●●●●●
26. 88451757 c.794G>A p.R265H missense 0.00013194●●●●●●
27. 88466436 c.1045T>A p.S349T missense 0.00013059●●●●●●
28. 88441313 c.442C>T p.R148W missense 0.00012885●●●●●●
29. 88476105 c.1253C>G p.P418R missense 0.00012533●●●●●●
30. 88451756 c.793C>T p.R265C missense 0.00012370●●●●●●
31. 88466440 c.1049C>T p.T350I missense 0.00012237●●●●●●
32. 88476231 c.1379C>T p.A460V missense 0.00011717●●●●●●
33. 88477741 c.1697T>G p.M566R missense 0.00011541●●●●●●
34. 88441401 c.530C>T p.A177V missense 0.00011101●●●●●●
35. 88476116 c.1264G>A p.A422T missense 0.00010882●●●●●●
36. 88441481 c.610G>A p.A204T missense 0.00010122●●●●●●
37. 88428495 c.47G>A p.R16H missense 0.00010001●●●●●●
38. 88476492 c.1640G>A p.R547Q missense 0.00009751●●●●●●
39. 88466427 c.1036G>A p.A346T missense 0.00009476●●●●●●
40. 88466383 c.992C>T p.A331V missense 0.00009239●●●●●●
41. 88476282 c.1430A>G p.Y477C missense 0.00009100●●●●●●
42. 88477867 c.1823C>T p.P608L missense 0.00009061●●●●●●
43. 88441421 c.550A>G p.K184E missense 0.00008435●●●●●●
44. 88476164 c.1312A>G p.T438A missense 0.00008327●●●●●●
45. 88476263 c.1411C>T p.P471S missense 0.00008286●●●●●●
46. 88476294 c.1442C>G p.P481R missense 0.00008270●●●●●●
47. 88476339 c.1487T>C p.F496S missense 0.00008264●●●●●●
48. 88476527 c.1675C>T p.R559W missense 0.00008256●●●●●●
49. 88441215 c.344G>A p.G115D missense 0.00007732●●●●●●
50. 88466346 c.955G>A p.A319T missense 0.00007544●●●●●●
51. 88476287 c.1435G>A p.G479R missense 0.00007445●●●●●●
52. 88476189 c.1337C>A p.T446N missense 0.00007335●●●●●●
53. 88466466 c.1075G>A p.D359N missense 0.00006983●●●●●●
54. 88441397 c.526G>A p.G176R missense 0.00006840●●●●●●
55. 88441403 c.532C>G p.R178G missense 0.00006825●●●●●●
56. 88476491 c.1639C>T p.R547W missense 0.00006774●●●●●●
57. 88478536 c.1910C>T p.A637V missense 0.00006594●●●●●●
58. 88492699 c.2150T>G p.L717R missense 0.00006163●●●●●●
59. 88428539 c.91C>T p.R31W missense 0.00005898●●●●●●
60. 88441452 c.581A>T p.Q194L missense 0.00005846●●●●●●
61. 88451732 c.769G>C p.E257Q missense 0.00005771●●●●●●
62. 88478530 c.1904T>G p.V635G missense 0.00005769●●●●●●
63. 88441547 c.676G>A p.G226R missense 0.00005316●●●●●●
64. 88441527 c.656G>A p.R219Q missense 0.00005228●●●●●●
65. 88485965 c.2050G>A p.E684K missense 0.00004945●●●●●●
66. 88476506 c.1654G>A p.G552S missense 0.00004447●●●●●●
67. 88466392 c.1001C>A p.P334Q missense 0.00004202●●●●●●
68. 88466335 c.944C>T p.P315L missense 0.00004190●●●●●●
69. 88451687 c.724G>A p.A242T missense 0.00004123●●●●●●
70. 88439190 c.160G>A p.G54S missense 0.00004122●●●●●●
71. 88476165 c.1313C>A p.T438N missense 0.00003831●●●●●●
72. 88492723 c.2174T>C p.I725T missense 0.00003703●●●●●●
73. 88441539 c.668C>T p.S223L missense 0.00003519●●●●●●
74. 88441340 c.469G>C p.E157Q missense 0.00003448●●●●●●
75. 88441278 c.407C>T p.P136L missense 0.00003433●●●●●●
76. 88441269 c.398C>T p.P133L missense 0.00003433●●●●●●
77. 88441404 c.533G>A p.R178Q missense 0.00003408●●●●●●
78. 88466409 c.1018G>C p.A340P missense 0.00003373●●●●●●
79. 88466296 c.905T>C p.I302T missense 0.00003355●●●●●●
80. 88428502 c.54G>T p.Q18H missense 0.00003337●●●●●●
81. 88478598 c.1972G>A p.E658K missense 0.00003311●●●●●●
82. 88476324 c.1472T>A p.V491E missense 0.00003305●●●●●●
83. 88478583 c.1957G>A p.G653R missense 0.00003303●●●●●●
84. 88439873 c.280C>A p.P94T missense 0.00003299●●●●●●
85. 88439865 c.272C>T p.T91M missense 0.00003299●●●●●●
86. 88485941 c.2026G>A p.V676M missense 0.00003296●●●●●●
87. 88477747 c.1703G>A p.R568H missense 0.00003296●●●●●●
88. 88477843 c.1799G>A p.R600Q missense 0.00003295●●●●●●
89. 88476528 c.1676G>A p.R559Q missense 0.00002780●●●●●●
90. 88492723 c.2174T>A p.I725N missense 0.00002778●●●●●●
91. 88441517 c.646A>T p.M216L missense 0.00002596●●●●●●
92. 88441365 c.494G>A p.R165Q missense 0.00002590●●●●●●
93. 88441209 c.338C>T p.T113M missense 0.00002577●●●●●●
94. 88441214 c.343G>C p.G115R missense 0.00002577●●●●●●
95. 88441283 c.412C>G p.L138V missense 0.00002574●●●●●●
96. 88441415 c.544G>A p.G182S missense 0.00002538●●●●●●
97. 88441479 c.608C>T p.S203L missense 0.00002530●●●●●●
98. 88476255 c.1403A>G p.N468S missense 0.00002488●●●●●●
99. 88451808 c.845C>T p.T282M missense 0.00002486●●●●●●
100. 88476381 c.1529G>A p.S510N missense 0.00002482●●●●●●
101. 88476297 c.1445C>T p.A482V missense 0.00002481●●●●●●
102. 88476354 c.1502C>T p.A501V missense 0.00002479●●●●●●
103. 88476338 c.1486T>G p.F496V missense 0.00002479●●●●●●
104. 88485989 c.2074G>A p.D692N missense 0.00002476●●●●●●
105. 88451780 c.817C>T p.R273C missense 0.00002476●●●●●●
106. 88439846 c.253C>T p.R85C missense 0.00002474●●●●●●
107. 88477740 c.1696A>G p.M566V missense 0.00002473●●●●●●
108. 88439175 c.145G>A p.V49M missense 0.00002473●●●●●●
109. 88439175 c.145G>C p.V49L missense 0.00002473●●●●●●
110. 88477758 c.1714C>A p.P572T missense 0.00002472●●●●●●
111. 88452319 c.887G>A p.R296Q missense 0.00002471●●●●●●
112. 88477830 c.1786G>A p.V596I missense 0.00002471●●●●●●
113. 88476168 c.1316C>T p.P439L missense 0.00002106●●●●●●
114. 88476164 c.1312A>C p.T438P missense 0.00002082●●●●●●
115. 88476173 c.1321C>T p.P441S missense 0.00002011●●●●●●
116. 88476140 c.1288A>G p.T430A missense 0.00001807●●●●●●
117. 88469796 c.1220T>C p.V407A missense 0.00001765●●●●●●
118. 88492675 c.2126T>C p.F709S missense 0.00001763●●●●●●
119. 88476141 c.1289C>T p.T430I missense 0.00001755●●●●●●
120. 88441362 c.491C>T p.P164L missense 0.00001731●●●●●●
121. 88441379 c.508G>A p.A170T missense 0.00001720●●●●●●
122. 88441229 c.358C>A p.P120T missense 0.00001719●●●●●●
123. 88441322 c.451G>A p.A151T missense 0.00001719●●●●●●
124. 88441266 c.395C>T p.T132I missense 0.00001718●●●●●●
125. 88441239 c.368G>A p.S123N missense 0.00001718●●●●●●
126. 88441314 c.443G>A p.R148Q missense 0.00001718●●●●●●
127. 88441244 c.373G>A p.E125K missense 0.00001718●●●●●●
128. 88441199 c.328G>A p.A110T missense 0.00001716●●●●●●
129. 88441293 c.422C>T p.T141I missense 0.00001714●●●●●●
130. 88441396 c.525G>C p.E175D missense 0.00001711●●●●●●
131. 88469691 c.1115T>C p.V372A missense 0.00001705●●●●●●
132. 88469706 c.1130C>T p.A377V missense 0.00001702●●●●●●
133. 88441486 c.615G>C p.E205D missense 0.00001695●●●●●●
134. 88441431 c.560C>A p.P187Q missense 0.00001682●●●●●●
135. 88466382 c.991G>A p.A331T missense 0.00001680●●●●●●
136. 88466305 c.914C>A p.A305E missense 0.00001677●●●●●●
137. 88466331 c.940A>G p.T314A missense 0.00001676●●●●●●
138. 88441446 c.575C>T p.P192L missense 0.00001672●●●●●●
139. 88476108 c.1256C>A p.S419Y missense 0.00001672●●●●●●
140. 88476234 c.1382A>C p.Y461S missense 0.00001671●●●●●●
141. 88441453 c.582A>C p.Q194H missense 0.00001670●●●●●●
142. 88428504 c.56G>C p.G19A missense 0.00001668●●●●●●
143. 88428461 c.13G>A p.V5M missense 0.00001665●●●●●●
144. 88476398 c.1546C>T p.R516W missense 0.00001658●●●●●●
145. 88476399 c.1547G>A p.R516Q missense 0.00001658●●●●●●
146. 88476372 c.1520C>A p.T507N missense 0.00001654●●●●●●
147. 88476345 c.1493A>G p.Q498R missense 0.00001653●●●●●●
148. 88478583 c.1957G>C p.G653R missense 0.00001652●●●●●●
149. 88439889 c.296C>T p.P99L missense 0.00001652●●●●●●
150. 88451792 c.829A>T p.I277F missense 0.00001652●●●●●●
151. 88439874 c.281C>T p.P94L missense 0.00001650●●●●●●
152. 88485915 c.2000C>T p.T667I missense 0.00001649●●●●●●
153. 88451760 c.797G>A p.R266H missense 0.00001649●●●●●●
154. 88451676 c.713C>A p.A238D missense 0.00001649●●●●●●
155. 88439847 c.254G>A p.R85H missense 0.00001649●●●●●●
156. 88477888 c.1844C>G p.T615S missense 0.00001648●●●●●●
157. 88478511 c.1885T>C p.W629R missense 0.00001648●●●●●●
158. 88477833 c.1789T>A p.Y597N missense 0.00001647●●●●●●
159. 88476519 c.1667A>G p.N556S missense 0.00001248●●●●●●
160. 88476507 c.1655G>T p.G552V missense 0.00001116●●●●●●
161. 88476506 c.1654G>C p.G552R missense 0.00001112●●●●●●
162. 88476489 c.1637G>A p.S546N missense 0.00000957●●●●●●
163. 88466457 c.1066A>C p.S356R missense 0.00000933●●●●●●
164. 88492651 c.2102A>G p.H701R missense 0.00000928●●●●●●
165. 88492653 c.2104G>T p.V702L missense 0.00000923●●●●●●
166. 88476144 c.1292C>A p.P431H missense 0.00000905●●●●●●
167. 88476140 c.1288A>T p.T430S missense 0.00000903●●●●●●
168. 88492712 c.2163C>A p.H721Q missense 0.00000896●●●●●●
169. 88492666 c.2117G>T p.G706V missense 0.00000895●●●●●●
170. 88492705 c.2156A>C p.K719T missense 0.00000887●●●●●●
171. 88492672 c.2123C>T p.P708L missense 0.00000886●●●●●●
172. 88492680 c.2131T>G p.S711A missense 0.00000879●●●●●●
173. 88476141 c.1289C>A p.T430N missense 0.00000878●●●●●●
174. 88469786 c.1210C>T p.R404W missense 0.00000874●●●●●●
175. 88469786 c.1210C>G p.R404G missense 0.00000874●●●●●●
176. 88476213 c.1361C>T p.T454I missense 0.00000872●●●●●●
177. 88469763 c.1187G>A p.R396Q missense 0.00000863●●●●●●
178. 88441367 c.496G>T p.A166S missense 0.00000863●●●●●●
179. 88441343 c.472G>A p.A158T missense 0.00000862●●●●●●
180. 88441340 c.469G>A p.E157K missense 0.00000862●●●●●●
181. 88441343 c.472G>T p.A158S missense 0.00000862●●●●●●
182. 88441506 c.635A>T p.Q212L missense 0.00000860●●●●●●
183. 88441380 c.509C>T p.A170V missense 0.00000860●●●●●●
184. 88441248 c.377C>G p.A126G missense 0.00000859●●●●●●
185. 88441289 c.418C>G p.P140A missense 0.00000859●●●●●●
186. 88469736 c.1160G>T p.G387V missense 0.00000859●●●●●●
187. 88441227 c.356C>T p.A119V missense 0.00000859●●●●●●
188. 88441384 c.513G>T p.K171N missense 0.00000859●●●●●●
189. 88441268 c.397C>T p.P133S missense 0.00000858●●●●●●
190. 88441304 c.433G>T p.A145S missense 0.00000858●●●●●●
191. 88441280 c.409G>A p.E137K missense 0.00000858●●●●●●
192. 88469742 c.1166C>G p.A389G missense 0.00000858●●●●●●
193. 88441286 c.415A>G p.R139G missense 0.00000858●●●●●●
194. 88441391 c.520C>T p.P174S missense 0.00000857●●●●●●
195. 88441299 c.428G>T p.S143I missense 0.00000857●●●●●●
196. 88469729 c.1153A>G p.S385G missense 0.00000854●●●●●●
197. 88441403 c.532C>T p.R178W missense 0.00000853●●●●●●
198. 88441496 c.625G>C p.E209Q missense 0.00000853●●●●●●
199. 88469723 c.1147A>G p.S383G missense 0.00000853●●●●●●
200. 88469696 c.1120G>A p.A374T missense 0.00000851●●●●●●
201. 88469709 c.1133C>T p.P378L missense 0.00000851●●●●●●
202. 88469670 c.1094C>T p.A365V missense 0.00000850●●●●●●
203. 88441490 c.619C>G p.L207V missense 0.00000849●●●●●●
204. 88466418 c.1027A>G p.T343A missense 0.00000849●●●●●●
205. 88476224 c.1372G>A p.A458T missense 0.00000846●●●●●●
206. 88441485 c.614A>C p.E205A missense 0.00000846●●●●●●
207. 88476453 c.1601G>T p.G534V missense 0.00000844●●●●●●
208. 88466407 c.1016C>G p.A339G missense 0.00000843●●●●●●
209. 88476225 c.1373C>G p.A458G missense 0.00000843●●●●●●
210. 88441428 c.557T>C p.L186P missense 0.00000842●●●●●●
211. 88466383 c.992C>A p.A331E missense 0.00000840●●●●●●
212. 88476126 c.1274G>A p.S425N missense 0.00000840●●●●●●
213. 88466388 c.997T>A p.S333T missense 0.00000840●●●●●●
214. 88466362 c.971C>T p.P324L missense 0.00000839●●●●●●
215. 88466361 c.970C>T p.P324S missense 0.00000839●●●●●●
216. 88466358 c.967C>T p.P323S missense 0.00000839●●●●●●
217. 88466305 c.914C>G p.A305G missense 0.00000839●●●●●●
218. 88476121 c.1269T>G p.N423K missense 0.00000838●●●●●●
219. 88428524 c.76C>T p.P26S missense 0.00000837●●●●●●
220. 88476105 c.1253C>T p.P418L missense 0.00000836●●●●●●
221. 88476237 c.1385C>T p.T462I missense 0.00000834●●●●●●
222. 88428503 c.55G>C p.G19R missense 0.00000834●●●●●●
223. 88428491 c.43T>C p.F15L missense 0.00000833●●●●●●
224. 88428459 c.11G>A p.S4N missense 0.00000833●●●●●●
225. 88428479 c.31G>A p.G11R missense 0.00000833●●●●●●
226. 88476249 c.1397C>T p.A466V missense 0.00000830●●●●●●
227. 88476399 c.1547G>T p.R516L missense 0.00000829●●●●●●
228. 88476390 c.1538C>A p.T513N missense 0.00000828●●●●●●
229. 88476270 c.1418C>A p.P473H missense 0.00000828●●●●●●
230. 88476266 c.1414G>C p.A472P missense 0.00000828●●●●●●
231. 88476392 c.1540C>G p.L514V missense 0.00000828●●●●●●
232. 88478599 c.1973A>G p.E658G missense 0.00000828●●●●●●
233. 88476389 c.1537A>G p.T513A missense 0.00000828●●●●●●
234. 88478599 c.1973A>C p.E658A missense 0.00000828●●●●●●
235. 88476366 c.1514G>A p.S505N missense 0.00000827●●●●●●
236. 88476279 c.1427C>T p.A476V missense 0.00000827●●●●●●
237. 88476290 c.1438G>A p.G480S missense 0.00000827●●●●●●
238. 88476291 c.1439G>A p.G480D missense 0.00000827●●●●●●
239. 88476357 c.1505C>T p.P502L missense 0.00000826●●●●●●
240. 88476332 c.1480G>A p.D494N missense 0.00000826●●●●●●
241. 88478589 c.1963C>A p.P655T missense 0.00000826●●●●●●
242. 88478584 c.1958G>A p.G653E missense 0.00000826●●●●●●
243. 88476317 c.1465C>T p.P489S missense 0.00000826●●●●●●
244. 88451789 c.826C>T p.R276C missense 0.00000826●●●●●●
245. 88476323 c.1471G>A p.V491M missense 0.00000826●●●●●●
246. 88451790 c.827G>A p.R276H missense 0.00000826●●●●●●
247. 88439242 c.212C>G p.S71C missense 0.00000826●●●●●●
248. 88478580 c.1954G>C p.D652H missense 0.00000826●●●●●●
249. 88451664 c.701T>A p.I234N missense 0.00000825●●●●●●
250. 88439211 c.181A>C p.T61P missense 0.00000825●●●●●●
251. 88451747 c.784G>A p.E262K missense 0.00000825●●●●●●
252. 88451759 c.796C>T p.R266C missense 0.00000825●●●●●●
253. 88451673 c.710T>G p.L237R missense 0.00000825●●●●●●
254. 88451781 c.818G>A p.R273H missense 0.00000825●●●●●●
255. 88478564 c.1938C>A p.S646R missense 0.00000825●●●●●●
256. 88451678 c.715G>T p.V239L missense 0.00000825●●●●●●
257. 88439214 c.184C>T p.H62Y missense 0.00000825●●●●●●
258. 88477730 c.1686T>A p.F562L missense 0.00000825●●●●●●
259. 88451658 c.695T>G p.L232R missense 0.00000825●●●●●●
260. 88451753 c.790G>A p.A264T missense 0.00000825●●●●●●
261. 88439127 c.97A>T p.T33S missense 0.00000825●●●●●●
262. 88451663 c.700A>G p.I234V missense 0.00000825●●●●●●
263. 88439208 c.178A>T p.M60L missense 0.00000825●●●●●●
264. 88439883 c.290A>G p.Q97R missense 0.00000825●●●●●●
265. 88451763 c.800C>T p.S267F missense 0.00000825●●●●●●
266. 88451705 c.742G>A p.A248T missense 0.00000824●●●●●●
267. 88485964 c.2049C>G p.I683M missense 0.00000824●●●●●●
268. 88452300 c.868C>A p.P290T missense 0.00000824●●●●●●
269. 88478545 c.1919A>G p.K640R missense 0.00000824●●●●●●
270. 88477887 c.1843A>G p.T615A missense 0.00000824●●●●●●
271. 88477833 c.1789T>C p.Y597H missense 0.00000824●●●●●●
272. 88478520 c.1894A>G p.T632A missense 0.00000824●●●●●●
273. 88439166 c.136G>T p.G46C missense 0.00000824●●●●●●
274. 88477789 c.1745C>G p.T582S missense 0.00000824●●●●●●
275. 88452301 c.869C>T p.P290L missense 0.00000824●●●●●●
276. 88477755 c.1711C>T p.H571Y missense 0.00000824●●●●●●
277. 88485917 c.2002A>G p.K668E missense 0.00000824●●●●●●
278. 88477780 c.1736A>G p.Y579C missense 0.00000824●●●●●●
279. 88439197 c.167A>G p.N56S missense 0.00000824●●●●●●
280. 88478529 c.1903G>T p.V635F missense 0.00000824●●●●●●
281. 88477826 c.1782C>A p.N594K missense 0.00000824●●●●●●
282. 88452328 c.896G>A p.S299N missense 0.00000824●●●●●●
283. 88451727 c.764A>G p.K255R missense 0.00000824●●●●●●
284. 88478484 c.1858G>A p.E620K missense 0.00000824●●●●●●
285. 88451696 c.733G>A p.V245I missense 0.00000824●●●●●●
286. 88485977 c.2062C>T p.H688Y missense 0.00000824●●●●●●
287. 88485944 c.2029G>A p.E677K missense 0.00000824●●●●●●
288. 88478539 c.1913C>A p.A638D missense 0.00000824●●●●●●
289. 88451741 c.778G>A p.A260T missense 0.00000824●●●●●●
290. 88439142 c.112G>A p.A38T missense 0.00000824●●●●●●
291. 88477785 c.1741A>C p.K581Q missense 0.00000824●●●●●●

* This highlights the relative frequency of the variant in the ExAC populations - Non-Finnish European, African, East Asian, South Asian, American and Finnish. Higher frequencies are denoted by darker shades of green, variants absent in a population are coloured light gray.

✝ Genomic coordinates refer to the GRCh37 release of the human genome.