CTNNA3 variants in ExAC

CTNNA3 gene summary
CTNNA3 variants in

The table below lists the CTNNA3 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. 68040325 c.1787G>A p.S596N missense 0.41196636●●●●●●
2. 67726514 c.2266-10T>G splice site 0.34425096●●●●●●
3. 69281701 c.478T>A p.S160T missense 0.02262331●●●●●●
4. 68139039 c.1603C>T p.R535C missense 0.01183154●●●●●●
5. 68138987 c.1655C>T p.T552M missense 0.00772185●●●●●●
6. 68940075 c.1047C>T p.N349N splice site 0.00253192●●●●●●
7. 68979466 c.742G>T p.A248S missense 0.00208392●●●●●●
8. 68979636 c.580-8C>T splice site 0.00155787●●●●●●
9. 69407162 c.99+11C>T splice site 0.00136411●●●●●●
10. 68280453 c.1453A>T p.T485S missense 0.00102276●●●●●●
11. 68526170 c.1133G>A p.R378H missense 0.00094354●●●●●●
12. 68139054 c.1588G>T p.A530S missense 0.00082432●●●●●●
13. 68139055 c.1587T>A p.D529E missense 0.00082432●●●●●●
14. 68526108 c.1195C>A p.L399I missense 0.00070089●●●●●●
15. 68979429 c.779A>G p.Q260R missense 0.00070018●●●●●●
16. 67829067 c.2158A>C p.R720R splice site 0.00060180●●●●●●
17. 67862992 c.1900G>A p.E634K missense 0.00045376●●●●●●
18. 68526171 c.1132C>T p.R378C missense 0.00044707●●●●●●
19. 69299263 c.457G>C p.A153P missense 0.00044098●●●●●●
20. 68381506 c.1318G>A p.D440N missense 0.00042496●●●●●●
21. 67829256 c.1978-9_1978-8delAT splice site 0.00037015●●●●●●
22. 67680203 c.2573T>C p.L858S missense 0.00033782●●●●●●
23. 67862956 c.1936C>T p.R646C missense 0.00032141●●●●●●
24. 67862955 c.1937G>A p.R646H missense 0.00028842●●●●●●
25. 68040262 c.1850T>C p.I617T missense 0.00026447●●●●●●
26. 67726392 c.2378G>A p.G793E missense 0.00023923●●●●●●
27. 68280456 c.1450C>T p.R484C missense 0.00023096●●●●●●
28. 69366752 c.155C>T p.S52L missense 0.00022250●●●●●●
29. 68138902 c.1732+8A>G splice site 0.00019004●●●●●●
30. 68526177 c.1129-3C>G splice site 0.00015772●●●●●●
31. 67680275 c.2501G>T p.R834L missense 0.00015652●●●●●●
32. 67829159 c.2066C>T p.A689V missense 0.00014014●●●●●●
33. 68138999 c.1643C>T p.A548V missense 0.00014010●●●●●●
34. 68139038 c.1604G>A p.R535H missense 0.00012365●●●●●●
35. 68139032 c.1610C>T p.A537V missense 0.00011544●●●●●●
36. 68979490 c.718A>G p.T240A missense 0.00011532●●●●●●
37. 69281601 c.578A>G p.Q193R missense 0.00010744●●●●●●
38. 68280485 c.1421C>T p.A474V missense 0.00010730●●●●●●
39. 68139014 c.1628G>A p.R543Q missense 0.00010715●●●●●●
40. 69299271 c.449A>G p.H150R missense 0.00009974●●●●●●
41. 68940115 c.1007G>T p.R336L missense 0.00009896●●●●●●
42. 67829171 c.2054G>A p.S685N missense 0.00009895●●●●●●
43. 68526111 c.1192G>A p.V398I missense 0.00009894●●●●●●
44. 67680276 c.2500C>T p.R834X nonsense 0.00009886●●●●●●
45. 68526176 c.1129-2A>T essential splice site 0.00009131●●●●●●
46. 67680138 c.2638dupA p.Ile880AsnfsTer9 frameshift 0.00009065●●●●●●
47. 68526128 c.1175C>T p.T392M missense 0.00008246●●●●●●
48. 67680226 c.2550G>A p.M850I missense 0.00008239●●●●●●
49. 68979438 c.770A>G p.Q257R missense 0.00008237●●●●●●
50. 67829246 c.1979C>T p.A660V missense 0.00006822●●●●●●
51. 67863010 c.1885-3T>C splice site 0.00006633●●●●●●
52. 68040347 c.1765G>A p.A589T missense 0.00006618●●●●●●
53. 68940163 c.959C>T p.T320M missense 0.00006598●●●●●●
54. 68138991 c.1651G>A p.V551I missense 0.00006593●●●●●●
55. 68979412 c.796C>T p.P266S missense 0.00006593●●●●●●
56. 67680252 c.2524C>T p.R842W missense 0.00006591●●●●●●
57. 68381521 c.1303A>G p.M435V missense 0.00005844●●●●●●
58. 67680372 c.2404G>T p.D802Y missense 0.00005799●●●●●●
59. 68040289 c.1823A>T p.D608V missense 0.00005784●●●●●●
60. 69366777 c.130C>G p.P44A missense 0.00005781●●●●●●
61. 68139015 c.1627C>T p.R543W missense 0.00005770●●●●●●
62. 68526084 c.1219C>T p.R407W missense 0.00005770●●●●●●
63. 68526072 c.1231A>G p.I411V missense 0.00005769●●●●●●
64. 67680276 c.2500C>G p.R834G missense 0.00005767●●●●●●
65. 67680283 c.2493G>T p.K831N missense 0.00005767●●●●●●
66. 68979376 c.832G>A p.D278N missense 0.00004981●●●●●●
67. 69299304 c.416C>T p.A139V missense 0.00004972●●●●●●
68. 68040247 c.1865G>A p.C622Y missense 0.00004960●●●●●●
69. 68940123 c.999C>A p.N333K missense 0.00004948●●●●●●
70. 68535266 c.1064G>A p.R355K missense 0.00004948●●●●●●
71. 68526083 c.1220G>A p.R407Q missense 0.00004946●●●●●●
72. 67680324 c.2452G>C p.V818L missense 0.00004946●●●●●●
73. 68138951 c.1691C>T p.T564M missense 0.00004946●●●●●●
74. 69299343 c.377G>A p.R126H missense 0.00004137●●●●●●
75. 68040340 c.1772A>T p.E591V missense 0.00004133●●●●●●
76. 68040308 c.1804G>T p.D602Y missense 0.00004131●●●●●●
77. 68526149 c.1154T>C p.V385A missense 0.00004127●●●●●●
78. 67726390 c.2380G>A p.G794R missense 0.00004125●●●●●●
79. 68940134 c.988G>A p.A330T missense 0.00004124●●●●●●
80. 68535252 c.1078A>G p.N360D missense 0.00004122●●●●●●
81. 67680195 c.2581A>G p.R861G missense 0.00004120●●●●●●
82. 68040380 c.1733-1G>C essential splice site 0.00003338●●●●●●
83. 68280365 c.1531+10T>G splice site 0.00003330●●●●●●
84. 69299344 c.376C>T p.R126C missense 0.00003310●●●●●●
85. 67680096 c.2680A>T p.I894F missense 0.00003310●●●●●●
86. 68040341 c.1771G>A p.E591K missense 0.00003308●●●●●●
87. 68040253 c.1859T>A p.I620N missense 0.00003306●●●●●●
88. 68535195 c.1128+7G>T splice site 0.00003303●●●●●●
89. 68280437 c.1469T>G p.I490R missense 0.00003300●●●●●●
90. 68280455 c.1451G>A p.R484H missense 0.00003299●●●●●●
91. 68940115 c.1007G>A p.R336H missense 0.00003299●●●●●●
92. 68940148 c.974G>A p.R325Q missense 0.00003299●●●●●●
93. 69407199 c.73A>G p.K25E missense 0.00003299●●●●●●
94. 68535236 c.1094A>G p.N365S missense 0.00003298●●●●●●
95. 68526104 c.1199T>C p.I400T missense 0.00003298●●●●●●
96. 67726423 c.2347A>G p.S783G missense 0.00003298●●●●●●
97. 68139068 c.1574T>C p.L525S missense 0.00003297●●●●●●
98. 67829127 c.2098G>A p.D700N missense 0.00003297●●●●●●
99. 68138949 c.1693G>T p.E565X nonsense 0.00003297●●●●●●
100. 67748467 c.2248C>T p.R750W missense 0.00003296●●●●●●
101. 67680147 c.2629A>C p.K877Q missense 0.00003296●●●●●●
102. 67680188 c.2588delA p.Lys863SerfsTer24 frameshift 0.00003296●●●●●●
103. 67829103 c.2122A>G p.M708V missense 0.00003296●●●●●●
104. 67680251 c.2525G>A p.R842Q missense 0.00003295●●●●●●
105. 67680278 c.2498T>C p.I833T missense 0.00003295●●●●●●
106. 67748504 c.2211G>C p.M737I missense 0.00003295●●●●●●
107. 68979616 c.592C>A p.P198T missense 0.00002536●●●●●●
108. 68979606 c.602G>A p.R201K missense 0.00002513●●●●●●
109. 68381476 c.1348A>G p.N450D missense 0.00002510●●●●●●
110. 69299272 c.448C>T p.H150Y missense 0.00002493●●●●●●
111. 69366623 c.284G>A p.R95H missense 0.00002489●●●●●●
112. 69366624 c.283C>T p.R95C missense 0.00002487●●●●●●
113. 68280516 c.1390C>G p.L464V missense 0.00002485●●●●●●
114. 69299347 c.373G>T p.A125S missense 0.00002482●●●●●●
115. 68280504 c.1402G>A p.A468T missense 0.00002480●●●●●●
116. 68040276 c.1836G>T p.K612N missense 0.00002479●●●●●●
117. 68940233 c.889C>T p.R297X nonsense 0.00002476●●●●●●
118. 68940232 c.890G>A p.R297Q missense 0.00002476●●●●●●
119. 68280417 c.1489G>A p.V497I missense 0.00002475●●●●●●
120. 69407180 c.92T>A p.I31K missense 0.00002475●●●●●●
121. 68940149 c.973C>T p.R325X nonsense 0.00002475●●●●●●
122. 68280434 c.1472A>G p.H491R missense 0.00002475●●●●●●
123. 68940178 c.944C>T p.A315V missense 0.00002475●●●●●●
124. 67726468 c.2302T>C p.Y768H missense 0.00002475●●●●●●
125. 68535257 c.1073C>A p.T358N missense 0.00002474●●●●●●
126. 68535210 c.1120C>T p.R374C missense 0.00002474●●●●●●
127. 68526117 c.1186C>G p.L396V missense 0.00002474●●●●●●
128. 68940116 c.1006C>T p.R336C missense 0.00002474●●●●●●
129. 68940110 c.1012G>A p.A338T missense 0.00002474●●●●●●
130. 67726402 c.2368C>G p.Q790E missense 0.00002474●●●●●●
131. 69407256 c.16C>G p.P6A missense 0.00002474●●●●●●
132. 68979564 c.644C>T p.S215F missense 0.00002474●●●●●●
133. 68139084 c.1558A>C p.K520Q missense 0.00002473●●●●●●
134. 69281671 c.508C>T p.L170F missense 0.00002473●●●●●●
135. 68138994 c.1648A>G p.I550V missense 0.00002472●●●●●●
136. 67680282 c.2494A>T p.I832F missense 0.00002472●●●●●●
137. 68138985 c.1657G>T p.G553C missense 0.00002472●●●●●●
138. 68979414 c.794C>T p.P265L missense 0.00002472●●●●●●
139. 68138972 c.1670G>A p.S557N missense 0.00002472●●●●●●
140. 69366718 c.189G>T p.E63D missense 0.00002471●●●●●●
141. 68979478 c.730G>A p.E244K missense 0.00002471●●●●●●
142. 68979357 c.843+8G>A splice site 0.00001693●●●●●●
143. 69366801 c.106A>C p.T36P missense 0.00001676●●●●●●
144. 68381515 c.1309A>G p.T437A missense 0.00001668●●●●●●
145. 67829219 c.2006A>T p.E669V missense 0.00001665●●●●●●
146. 67680381 c.2401-6C>T splice site 0.00001664●●●●●●
147. 69299268 c.452T>G p.V151G missense 0.00001663●●●●●●
148. 69366618 c.289G>C p.E97Q missense 0.00001662●●●●●●
149. 69366789 c.118T>C p.C40R missense 0.00001661●●●●●●
150. 68040364 c.1748T>C p.V583A missense 0.00001659●●●●●●
151. 67680375 c.2401T>C splice site 0.00001659●●●●●●
152. 69299290 c.430G>A p.V144I missense 0.00001659●●●●●●
153. 69299287 c.433A>G p.M145V missense 0.00001659●●●●●●
154. 69366624 c.283C>A p.R95S missense 0.00001658●●●●●●
155. 68979586 c.622C>T p.R208X nonsense 0.00001657●●●●●●
156. 69299322 c.398C>T p.T133M missense 0.00001656●●●●●●
157. 68040221 c.1884+7T>G splice site 0.00001655●●●●●●
158. 69299350 c.370G>A p.A124T missense 0.00001655●●●●●●
159. 68040229 c.1883G>A p.R628Q missense 0.00001655●●●●●●
160. 68040230 c.1882C>T p.R628W missense 0.00001655●●●●●●
161. 67680366 c.2410G>A p.V804I missense 0.00001654●●●●●●
162. 68040337 c.1775C>G p.A592G missense 0.00001654●●●●●●
163. 69299367 c.353G>A p.R118K missense 0.00001654●●●●●●
164. 68040259 c.1853A>G p.H618R missense 0.00001653●●●●●●
165. 67680099 c.2677C>A p.Q893K missense 0.00001653●●●●●●
166. 68040271 c.1841A>G p.Y614C missense 0.00001653●●●●●●
167. 67726492 c.2278T>C p.S760P missense 0.00001652●●●●●●
168. 68280399 c.1507A>C p.I503L missense 0.00001651●●●●●●
169. 68535199 c.1128+3delG splice site 0.00001651●●●●●●
170. 68940232 c.890G>C p.R297P missense 0.00001651●●●●●●
171. 68535282 c.1048G>T p.A350S missense 0.00001651●●●●●●
172. 68940242 c.880G>A p.E294K missense 0.00001651●●●●●●
173. 68940203 c.919A>T p.I307F missense 0.00001650●●●●●●
174. 69407258 c.14C>T p.T5I missense 0.00001650●●●●●●
175. 68940214 c.908G>A p.R303H missense 0.00001650●●●●●●
176. 68940167 c.955T>C p.C319R missense 0.00001650●●●●●●
177. 68280457 c.1449G>C p.K483N missense 0.00001650●●●●●●
178. 67680348 c.2428G>A p.A810T missense 0.00001650●●●●●●
179. 68940215 c.907C>T p.R303C missense 0.00001650●●●●●●
180. 68940187 c.935C>T p.A312V missense 0.00001650●●●●●●
181. 68138919 c.1723A>G p.T575A missense 0.00001650●●●●●●
182. 68940157 c.965A>G p.D322G missense 0.00001650●●●●●●
183. 68280475 c.1431C>A p.N477K missense 0.00001650●●●●●●
184. 69407256 c.16C>T p.P6S missense 0.00001650●●●●●●
185. 68940143 c.979C>T p.R327W missense 0.00001650●●●●●●
186. 69407205 c.67G>A p.V23M missense 0.00001649●●●●●●
187. 68940104 c.1018C>G p.Q340E missense 0.00001649●●●●●●
188. 67829154 c.2071A>G p.I691V missense 0.00001649●●●●●●
189. 69407250 c.22A>G p.T8A missense 0.00001649●●●●●●
190. 68526105 c.1198A>G p.I400V missense 0.00001649●●●●●●
191. 67862915 c.1977G>A splice site 0.00001649●●●●●●
192. 68535245 c.1085C>T p.A362V missense 0.00001649●●●●●●
193. 68526083 c.1220G>T p.R407L missense 0.00001649●●●●●●
194. 69407237 c.35A>T p.D12V missense 0.00001649●●●●●●
195. 69366759 c.148G>A p.G50R missense 0.00001649●●●●●●
196. 68526112 c.1191G>T p.L397F missense 0.00001649●●●●●●
197. 67862937 c.1955A>G p.Q652R missense 0.00001648●●●●●●
198. 67680159 c.2617C>T p.R873X nonsense 0.00001648●●●●●●
199. 67680304 c.2472G>A p.M824I missense 0.00001648●●●●●●
200. 67680222 c.2554G>C p.A852P missense 0.00001648●●●●●●
201. 67680176 c.2600C>G p.T867R missense 0.00001648●●●●●●
202. 68138973 c.1669A>G p.S557G missense 0.00001648●●●●●●
203. 67829100 c.2125T>A p.C709S missense 0.00001648●●●●●●
204. 68138995 c.1647C>A p.H549Q missense 0.00001648●●●●●●
205. 69366756 c.151C>T p.R51C missense 0.00001648●●●●●●
206. 67680294 c.2482G>A p.A828T missense 0.00001648●●●●●●
207. 67829082 c.2143A>C p.M715L missense 0.00001648●●●●●●
208. 68138967 c.1675G>A p.E559K missense 0.00001648●●●●●●
209. 69366675 c.232C>T p.Q78X nonsense 0.00001648●●●●●●
210. 67680222 c.2554G>A p.A852T missense 0.00001648●●●●●●
211. 67680122 c.2654T>C p.V885A missense 0.00001648●●●●●●
212. 69366723 c.184G>T p.V62L missense 0.00001648●●●●●●
213. 67680158 c.2618G>A p.R873Q missense 0.00001648●●●●●●
214. 67680219 c.2557C>A p.P853T missense 0.00001648●●●●●●
215. 67680297 c.2479A>C p.I827L missense 0.00001648●●●●●●
216. 67680208 c.2568A>T p.K856N missense 0.00001648●●●●●●
217. 67680176 c.2600C>T p.T867M missense 0.00001648●●●●●●
218. 68381445 c.1374+5G>T splice site 0.00000862●●●●●●
219. 68979628 c.580G>A p.D194N missense 0.00000855●●●●●●
220. 67829247 c.1978G>A p.A660T missense 0.00000854●●●●●●
221. 68381450 c.1374G>A splice site 0.00000854●●●●●●
222. 68979626 c.582C>T splice site 0.00000853●●●●●●
223. 68979622 c.586A>G p.K196E missense 0.00000850●●●●●●
224. 69366814 c.100-7A>G splice site 0.00000849●●●●●●
225. 68381542 c.1282G>A p.V428M missense 0.00000846●●●●●●
226. 67829237 c.1988C>T p.T663I missense 0.00000845●●●●●●
227. 68381538 c.1286C>A p.A429E missense 0.00000843●●●●●●
228. 68979359 c.843+6T>C splice site 0.00000842●●●●●●
229. 68381529 c.1295C>T p.A432V missense 0.00000837●●●●●●
230. 68381524 c.1300T>C p.S434P missense 0.00000836●●●●●●
231. 68979603 c.605A>G p.D202G missense 0.00000836●●●●●●
232. 68381479 c.1345G>A p.A449T missense 0.00000836●●●●●●
233. 68381484 c.1340T>C p.I447T missense 0.00000835●●●●●●
234. 68979601 c.607G>T p.E203X nonsense 0.00000835●●●●●●
235. 67829223 c.2002G>A p.A668T missense 0.00000835●●●●●●
236. 68381520 c.1304T>C p.M435T missense 0.00000835●●●●●●
237. 67829224 c.2001G>T p.E667D missense 0.00000835●●●●●●
238. 68381487 c.1337A>G p.K446R missense 0.00000834●●●●●●
239. 68040375 c.1737T>G p.I579M missense 0.00000834●●●●●●
240. 68040379 c.1733T>G p.V578G missense 0.00000834●●●●●●
241. 69299437 c.293-10T>C splice site 0.00000834●●●●●●
242. 68381500 c.1324A>G p.I442V missense 0.00000833●●●●●●
243. 67863014 c.1885-7T>C splice site 0.00000831●●●●●●
244. 69299287 c.433A>T p.M145L missense 0.00000830●●●●●●
245. 67726508 c.2266-4T>A splice site 0.00000830●●●●●●
246. 68280524 c.1382A>G p.N461S missense 0.00000830●●●●●●
247. 69299285 c.435G>C p.M145I missense 0.00000830●●●●●●
248. 67829215 c.2010delA p.Glu671LysfsTer13 frameshift 0.00000830●●●●●●
249. 69299286 c.434T>C p.M145T missense 0.00000830●●●●●●
250. 68280522 c.1384G>A p.A462T missense 0.00000830●●●●●●
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271. 68040242 c.1870G>C p.V624L missense 0.00000827●●●●●●
272. 67726500 c.2270delC p.Pro757GlnfsTer23 frameshift 0.00000827●●●●●●
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286. 68040316 c.1796A>G p.N599S missense 0.00000826●●●●●●
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429. 68139018 c.1624G>A p.G542S missense 0.00000824●●●●●●
430. 67680160 c.2616A>C p.R872S missense 0.00000824●●●●●●
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444. 67680275 c.2501G>A p.R834Q missense 0.00000824●●●●●●
445. 67862965 c.1927C>T p.H643Y missense 0.00000824●●●●●●
446. 68139030 c.1612G>T p.G538C missense 0.00000824●●●●●●
447. 67829100 c.2125T>G p.C709G missense 0.00000824●●●●●●
448. 69366694 c.213C>G p.D71E missense 0.00000824●●●●●●
449. 68979534 c.674G>T p.C225F missense 0.00000824●●●●●●
450. 67829123 c.2102T>A p.I701N 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.