ABCG5 missense variants in ExAC

ABCG5 gene summary
ABCG5 variants in

The table below lists the ABCG5 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. 44040401 c.1810C>G p.Q604E missense 0.20967633●●●●●●
2. 44065090 c.148C>T p.R50C missense 0.06434157●●●●●●
3. 44040347 c.1864A>G p.M622V missense 0.00541173●●●●●●
4. 44052147 c.785A>G p.K262R missense 0.00520184●●●●●●
5. 44059195 c.293C>G p.A98G missense 0.00501984●●●●●●
6. 44065739 c.80G>C p.G27A missense 0.00427926●●●●●●
7. 44047153 c.1550C>G p.T517S missense 0.00323075●●●●●●
8. 44047136 c.1567A>G p.I523V missense 0.00168916●●●●●●
9. 44065680 c.139G>T p.V47F missense 0.00153073●●●●●●
10. 44051148 c.1228A>C p.N410H missense 0.00144975●●●●●●
11. 44055163 c.593G>A p.R198Q missense 0.00144365●●●●●●
12. 44059163 c.325T>C p.F109L missense 0.00071164●●●●●●
13. 44049988 c.1411G>A p.V471I missense 0.00067946●●●●●●
14. 44040341 c.1870T>C p.F624L missense 0.00058955●●●●●●
15. 44041634 c.1744G>A p.G582R missense 0.00049718●●●●●●
16. 44047175 c.1528C>A p.H510N missense 0.00043747●●●●●●
17. 44065769 c.50T>G p.V17G missense 0.00043640●●●●●●
18. 44065003 c.235G>A p.G79R missense 0.00032123●●●●●●
19. 44055245 c.511G>A p.V171I missense 0.00029811●●●●●●
20. 44052129 c.803T>A p.F268Y missense 0.00028621●●●●●●
21. 44050033 c.1366G>A p.G456S missense 0.00027620●●●●●●
22. 44051213 c.1163C>T p.T388M missense 0.00018947●●●●●●
23. 44041645 c.1733A>G p.N578S missense 0.00015720●●●●●●
24. 44065680 c.139G>C p.V47L missense 0.00015700●●●●●●
25. 44059207 c.281C>G p.T94R missense 0.00015697●●●●●●
26. 44065056 c.182G>A p.R61Q missense 0.00015651●●●●●●
27. 44047075 c.1628T>C p.L543P missense 0.00014829●●●●●●
28. 44051210 c.1166G>A p.R389H missense 0.00014828●●●●●●
29. 44053537 c.758G>A p.R253H missense 0.00013182●●●●●●
30. 44059096 c.392A>G p.Y131C missense 0.00012888●●●●●●
31. 44065721 c.98C>T p.P33L missense 0.00011820●●●●●●
32. 44065680 c.139G>A p.V47I missense 0.00011775●●●●●●
33. 44051205 c.1171C>T p.L391F missense 0.00011533●●●●●●
34. 44051117 c.1259T>G p.V420G missense 0.00011533●●●●●●
35. 44065741 c.78G>T p.E26D missense 0.00011119●●●●●●
36. 44058978 c.431T>C p.V144A missense 0.00010988●●●●●●
37. 44041651 c.1727T>C p.V576A missense 0.00010753●●●●●●
38. 44065780 c.39G>T p.M13I missense 0.00010140●●●●●●
39. 44050051 c.1348G>A p.D450N missense 0.00010120●●●●●●
40. 44065791 c.28G>A p.G10R missense 0.00010005●●●●●●
41. 44047133 c.1570G>A p.V524I missense 0.00009887●●●●●●
42. 44047237 c.1466C>T p.T489M missense 0.00009450●●●●●●
43. 44052099 c.833C>T p.A278V missense 0.00009146●●●●●●
44. 44065725 c.94G>A p.A32T missense 0.00008862●●●●●●
45. 44052141 c.791C>T p.A264V missense 0.00008498●●●●●●
46. 44049967 c.1432G>A p.A478T missense 0.00008272●●●●●●
47. 44059196 c.292G>A p.A98T missense 0.00008077●●●●●●
48. 44050062 c.1337G>A p.R446Q missense 0.00007658●●●●●●
49. 44055158 c.598C>G p.R200G missense 0.00007474●●●●●●
50. 44051121 c.1255C>T p.R419C missense 0.00007414●●●●●●
51. 44047168 c.1535T>C p.I512T missense 0.00006598●●●●●●
52. 44065000 c.238C>A p.Q80K missense 0.00006589●●●●●●
53. 44065707 c.112C>G p.L38V missense 0.00006051●●●●●●
54. 44040355 c.1856G>C p.R619T missense 0.00005888●●●●●●
55. 44059145 c.343G>A p.V115M missense 0.00005300●●●●●●
56. 44050069 c.1330G>A p.V444M missense 0.00005132●●●●●●
57. 44059152 c.336G>T p.E112D missense 0.00005086●●●●●●
58. 44051536 c.940C>T p.R314W missense 0.00004961●●●●●●
59. 44051091 c.1285G>A p.A429T missense 0.00004944●●●●●●
60. 44051408 c.1068C>G p.F356L missense 0.00004944●●●●●●
61. 44051137 c.1239G>T p.K413N missense 0.00004942●●●●●●
62. 44055157 c.599G>A p.R200Q missense 0.00004155●●●●●●
63. 44051562 c.914C>T p.T305M missense 0.00004143●●●●●●
64. 44041654 c.1724T>G p.L575R missense 0.00004135●●●●●●
65. 44065089 c.149G>A p.R50H missense 0.00004123●●●●●●
66. 44051118 c.1258G>A p.V420I missense 0.00004119●●●●●●
67. 44051159 c.1217G>A p.R406Q missense 0.00004119●●●●●●
68. 44053564 c.731T>C p.I244T missense 0.00004119●●●●●●
69. 44053598 c.697G>A p.V233I missense 0.00004118●●●●●●
70. 44065012 c.226G>A p.V76M missense 0.00004118●●●●●●
71. 44059216 c.272G>A p.G91E missense 0.00004006●●●●●●
72. 44050041 c.1358G>C p.S453T missense 0.00003360●●●●●●
73. 44051056 c.1320T>A p.N440K missense 0.00003307●●●●●●
74. 44052032 c.900C>G p.F300L missense 0.00003306●●●●●●
75. 44051427 c.1049C>T p.T350M missense 0.00003297●●●●●●
76. 44051160 c.1216C>T p.R406W missense 0.00003295●●●●●●
77. 44053567 c.728G>A p.R243Q missense 0.00003295●●●●●●
78. 44051166 c.1210G>A p.V404I missense 0.00003295●●●●●●
79. 44059003 c.406G>A p.D136N missense 0.00003205●●●●●●
80. 44058990 c.419G>A p.S140N missense 0.00002930●●●●●●
81. 44058928 c.481C>A p.P161T missense 0.00002915●●●●●●
82. 44058934 c.475G>A p.G159S missense 0.00002788●●●●●●
83. 44058973 c.436G>C p.E146Q missense 0.00002706●●●●●●
84. 44058971 c.438G>C p.E146D missense 0.00002680●●●●●●
85. 44058970 c.439A>G p.T147A missense 0.00002669●●●●●●
86. 44065721 c.98C>G p.P33R missense 0.00002627●●●●●●
87. 44040385 c.1826T>C p.I609T missense 0.00002525●●●●●●
88. 44055122 c.634A>G p.K212E missense 0.00002514●●●●●●
89. 44052105 c.827C>T p.T276M missense 0.00002499●●●●●●
90. 44051562 c.914C>G p.T305R missense 0.00002486●●●●●●
91. 44055172 c.584C>T p.T195M missense 0.00002484●●●●●●
92. 44049963 c.1436C>A p.T479N missense 0.00002481●●●●●●
93. 44051461 c.1015T>G p.L339V missense 0.00002475●●●●●●
94. 44065087 c.151G>A p.V51M missense 0.00002473●●●●●●
95. 44051422 c.1054C>T p.P352S missense 0.00002473●●●●●●
96. 44065057 c.181C>T p.R61W missense 0.00002471●●●●●●
97. 44053550 c.745A>G p.I249V missense 0.00002471●●●●●●
98. 44051153 c.1223G>A p.R408Q missense 0.00002471●●●●●●
99. 44053541 c.754C>T p.P252S missense 0.00002471●●●●●●
100. 44065025 c.213T>A p.D71E missense 0.00002471●●●●●●
101. 44065018 c.220T>G p.L74V missense 0.00002471●●●●●●
102. 44065763 c.56G>T p.R19I missense 0.00001946●●●●●●
103. 44065681 c.138C>G p.S46R missense 0.00001931●●●●●●
104. 44065818 c.1A>G p.Met1? missense 0.00001833●●●●●●
105. 44040440 c.1771A>G p.N591D missense 0.00001832●●●●●●
106. 44065809 c.10C>T p.L4F missense 0.00001821●●●●●●
107. 44040436 c.1775T>C p.V592A missense 0.00001808●●●●●●
108. 44065688 c.131C>T p.S44F missense 0.00001763●●●●●●
109. 44040425 c.1786A>G p.T596A missense 0.00001762●●●●●●
110. 44040412 c.1799G>A p.C600Y missense 0.00001730●●●●●●
111. 44052157 c.775C>T p.L259F missense 0.00001725●●●●●●
112. 44052144 c.788T>C p.I263T missense 0.00001704●●●●●●
113. 44050063 c.1336C>G p.R446G missense 0.00001703●●●●●●
114. 44040301 c.1910T>C p.L637P missense 0.00001694●●●●●●
115. 44040340 c.1871T>G p.F624C missense 0.00001685●●●●●●
116. 44040386 c.1825A>G p.I609V missense 0.00001684●●●●●●
117. 44052127 c.805G>A p.G269R missense 0.00001683●●●●●●
118. 44040367 c.1844G>A p.G615D missense 0.00001683●●●●●●
119. 44055146 c.610G>A p.A204T missense 0.00001666●●●●●●
120. 44041706 c.1672C>G p.P558A missense 0.00001661●●●●●●
121. 44055161 c.595C>T p.R199C missense 0.00001660●●●●●●
122. 44055253 c.503T>G p.V168G missense 0.00001658●●●●●●
123. 44055249 c.507G>C p.E169D missense 0.00001657●●●●●●
124. 44055172 c.584C>A p.T195K missense 0.00001656●●●●●●
125. 44049963 c.1436C>T p.T479I missense 0.00001654●●●●●●
126. 44052070 c.862G>A p.G288S missense 0.00001654●●●●●●
127. 44052070 c.862G>C p.G288R missense 0.00001654●●●●●●
128. 44055202 c.554T>C p.I185T missense 0.00001652●●●●●●
129. 44052052 c.880C>T p.H294Y missense 0.00001652●●●●●●
130. 44055218 c.538G>A p.V180M missense 0.00001652●●●●●●
131. 44055201 c.555T>G p.I185M missense 0.00001652●●●●●●
132. 44055208 c.548G>A p.R183Q missense 0.00001652●●●●●●
133. 44051255 c.1121G>C p.R374T missense 0.00001651●●●●●●
134. 44051433 c.1043T>G p.L348R missense 0.00001649●●●●●●
135. 44051409 c.1067T>A p.F356Y missense 0.00001648●●●●●●
136. 44051211 c.1165C>T p.R389C missense 0.00001648●●●●●●
137. 44053576 c.719G>A p.R240H missense 0.00001648●●●●●●
138. 44053534 c.761C>G p.S254C missense 0.00001648●●●●●●
139. 44047116 c.1587A>G p.I529M missense 0.00001648●●●●●●
140. 44064993 c.245T>C p.M82T missense 0.00001647●●●●●●
141. 44051187 c.1189G>A p.G397S missense 0.00001647●●●●●●
142. 44065023 c.215T>C p.V72A missense 0.00001647●●●●●●
143. 44065024 c.214G>A p.V72I missense 0.00001647●●●●●●
144. 44051148 c.1228A>G p.N410D missense 0.00001647●●●●●●
145. 44051171 c.1205T>C p.F402S missense 0.00001647●●●●●●
146. 44053583 c.712C>A p.L238M missense 0.00001647●●●●●●
147. 44053637 c.658A>G p.T220A missense 0.00001647●●●●●●
148. 44065703 c.116G>A p.G39D missense 0.00001567●●●●●●
149. 44065766 c.53A>G p.N18S missense 0.00000958●●●●●●
150. 44065776 c.43C>G p.L15V missense 0.00000933●●●●●●
151. 44065780 c.39G>C p.M13I missense 0.00000922●●●●●●
152. 44065816 c.3G>C p.Met1? missense 0.00000916●●●●●●
153. 44065782 c.37A>G p.M13V missense 0.00000916●●●●●●
154. 44065817 c.2T>C p.Met1? missense 0.00000915●●●●●●
155. 44065791 c.28G>C p.G10R missense 0.00000910●●●●●●
156. 44065796 c.23C>T p.T8I missense 0.00000906●●●●●●
157. 44040424 c.1787C>T p.T596I missense 0.00000880●●●●●●
158. 44040259 c.1952G>A p.R651K missense 0.00000875●●●●●●
159. 44040416 c.1795A>T p.M599L missense 0.00000871●●●●●●
160. 44040415 c.1796T>C p.M599T missense 0.00000868●●●●●●
161. 44040268 c.1943T>A p.L648H missense 0.00000865●●●●●●
162. 44040268 c.1943T>G p.L648R missense 0.00000865●●●●●●
163. 44047220 c.1483G>C p.E495Q missense 0.00000864●●●●●●
164. 44040271 c.1940A>C p.H647P missense 0.00000862●●●●●●
165. 44040292 c.1919T>C p.V640A missense 0.00000850●●●●●●
166. 44052139 c.793A>C p.I265L missense 0.00000848●●●●●●
167. 44050059 c.1340C>T p.A447V missense 0.00000848●●●●●●
168. 44050059 c.1340C>G p.A447G missense 0.00000848●●●●●●
169. 44041723 c.1655T>A p.I552K missense 0.00000847●●●●●●
170. 44047210 c.1493G>A p.R498Q missense 0.00000846●●●●●●
171. 44040308 c.1903G>A p.V635I missense 0.00000845●●●●●●
172. 44040323 c.1888T>A p.F630I missense 0.00000844●●●●●●
173. 44040338 c.1873C>G p.L625V missense 0.00000843●●●●●●
174. 44040382 c.1829A>C p.E610A missense 0.00000842●●●●●●
175. 44040359 c.1852T>C p.S618P missense 0.00000841●●●●●●
176. 44040368 c.1843G>T p.G615C missense 0.00000841●●●●●●
177. 44040371 c.1840C>T p.P614S missense 0.00000841●●●●●●
178. 44052122 c.810G>C p.E270D missense 0.00000840●●●●●●
179. 44050035 c.1364A>G p.D455G missense 0.00000838●●●●●●
180. 44055134 c.622C>T p.L208F missense 0.00000835●●●●●●
181. 44050026 c.1373A>C p.Y458S missense 0.00000835●●●●●●
182. 44055134 c.622C>A p.L208I missense 0.00000835●●●●●●
183. 44050027 c.1372T>G p.Y458D missense 0.00000835●●●●●●
184. 44041712 c.1666C>A p.P556T missense 0.00000833●●●●●●
185. 44050002 c.1397C>T p.A466V missense 0.00000830●●●●●●
186. 44055164 c.592C>T p.R198W missense 0.00000830●●●●●●
187. 44049996 c.1403C>T p.A468V missense 0.00000830●●●●●●
188. 44055160 c.596G>A p.R199H missense 0.00000830●●●●●●
189. 44055251 c.505G>A p.E169K missense 0.00000829●●●●●●
190. 44055181 c.575G>T p.G192V missense 0.00000828●●●●●●
191. 44049973 c.1426G>A p.V476I missense 0.00000828●●●●●●
192. 44049939 c.1460A>G p.Y487C missense 0.00000828●●●●●●
193. 44047189 c.1514C>T p.A505V missense 0.00000828●●●●●●
194. 44049981 c.1418C>T p.P473L missense 0.00000828●●●●●●
195. 44051554 c.922G>C p.D308H missense 0.00000828●●●●●●
196. 44052077 c.855T>A p.N285K missense 0.00000827●●●●●●
197. 44051536 c.940C>G p.R314G missense 0.00000827●●●●●●
198. 44041655 c.1723C>G p.L575V missense 0.00000827●●●●●●
199. 44052031 c.901T>C p.Y301H missense 0.00000827●●●●●●
200. 44052070 c.862G>T p.G288C missense 0.00000827●●●●●●
201. 44055232 c.524T>A p.L175Q missense 0.00000827●●●●●●
202. 44051547 c.929A>G p.Q310R missense 0.00000827●●●●●●
203. 44041671 c.1707A>C p.K569N missense 0.00000827●●●●●●
204. 44049951 c.1448G>A p.S483N missense 0.00000827●●●●●●
205. 44055233 c.523C>A p.L175M missense 0.00000827●●●●●●
206. 44041667 c.1711T>C p.C571R missense 0.00000827●●●●●●
207. 44052073 c.859T>C p.C287R missense 0.00000827●●●●●●
208. 44051063 c.1313C>T p.A438V missense 0.00000826●●●●●●
209. 44055190 c.566G>C p.S189T missense 0.00000826●●●●●●
210. 44052034 c.898T>C p.F300L missense 0.00000826●●●●●●
211. 44052066 c.866A>C p.Y289S missense 0.00000826●●●●●●
212. 44055214 c.542C>T p.A181V missense 0.00000826●●●●●●
213. 44052039 c.893T>C p.F298S missense 0.00000826●●●●●●
214. 44051064 c.1312G>T p.A438S missense 0.00000826●●●●●●
215. 44055202 c.554T>A p.I185N missense 0.00000826●●●●●●
216. 44055197 c.559A>G p.N187D missense 0.00000826●●●●●●
217. 44052055 c.877G>A p.E293K missense 0.00000826●●●●●●
218. 44047181 c.1522G>A p.A508T missense 0.00000826●●●●●●
219. 44055206 c.550C>A p.L184M missense 0.00000826●●●●●●
220. 44051507 c.969G>C p.Q323H missense 0.00000826●●●●●●
221. 44051255 c.1121G>A p.R374K missense 0.00000826●●●●●●
222. 44051507 c.969G>T p.Q323H missense 0.00000826●●●●●●
223. 44052066 c.866A>G p.Y289C missense 0.00000826●●●●●●
224. 44051518 c.958A>G p.K320E missense 0.00000826●●●●●●
225. 44052030 c.902A>G p.Y301C missense 0.00000826●●●●●●
226. 44047173 c.1530C>G p.H510Q missense 0.00000825●●●●●●
227. 44051472 c.1004G>A p.C335Y missense 0.00000825●●●●●●
228. 44051065 c.1311C>G p.N437K missense 0.00000825●●●●●●
229. 44065089 c.149G>T p.R50L missense 0.00000825●●●●●●
230. 44051072 c.1304T>G p.M435R missense 0.00000825●●●●●●
231. 44051496 c.980C>T p.S327F missense 0.00000825●●●●●●
232. 44051451 c.1025T>C p.I342T missense 0.00000825●●●●●●
233. 44053594 c.701T>C p.L234P missense 0.00000824●●●●●●
234. 44053567 c.728G>C p.R243P missense 0.00000824●●●●●●
235. 44051135 c.1241G>A p.G414D missense 0.00000824●●●●●●
236. 44047084 c.1619C>A p.A540E missense 0.00000824●●●●●●
237. 44051225 c.1151T>C p.L384P missense 0.00000824●●●●●●
238. 44065026 c.212A>G p.D71G missense 0.00000824●●●●●●
239. 44053538 c.757C>T p.R253C missense 0.00000824●●●●●●
240. 44053648 c.647T>C p.F216S missense 0.00000824●●●●●●
241. 44065081 c.157C>T p.P53S missense 0.00000824●●●●●●
242. 44051234 c.1142G>A p.R381K missense 0.00000824●●●●●●
243. 44047078 c.1625T>C p.V542A missense 0.00000824●●●●●●
244. 44051394 c.1082C>A p.S361Y missense 0.00000824●●●●●●
245. 44065071 c.167A>C p.D56A missense 0.00000824●●●●●●
246. 44053603 c.692T>C p.I231T missense 0.00000824●●●●●●
247. 44051166 c.1210G>C p.V404L missense 0.00000824●●●●●●
248. 44064995 c.243C>G p.I81M missense 0.00000824●●●●●●
249. 44053601 c.694G>A p.V232I missense 0.00000824●●●●●●
250. 44047084 c.1619C>T p.A540V missense 0.00000824●●●●●●
251. 44051196 c.1180C>A p.L394M missense 0.00000824●●●●●●
252. 44051121 c.1255C>G p.R419G missense 0.00000824●●●●●●
253. 44065027 c.211G>C p.D71H missense 0.00000824●●●●●●
254. 44053619 c.676A>G p.M226V missense 0.00000824●●●●●●
255. 44065014 c.224A>G p.Y75C missense 0.00000824●●●●●●
256. 44051099 c.1277T>A p.F426Y missense 0.00000824●●●●●●
257. 44047088 c.1615A>C p.I539L missense 0.00000824●●●●●●
258. 44047082 c.1621G>A p.G541R missense 0.00000824●●●●●●
259. 44065044 c.194C>A p.T65N missense 0.00000824●●●●●●
260. 44053562 c.733G>A p.V245M missense 0.00000824●●●●●●
261. 44051408 c.1068C>A p.F356L missense 0.00000824●●●●●●
262. 44047055 c.1648A>G p.R550G missense 0.00000824●●●●●●
263. 44053540 c.755C>G p.P252R missense 0.00000824●●●●●●
264. 44051181 c.1195T>C p.F399L missense 0.00000824●●●●●●
265. 44051084 c.1292C>T p.P431L missense 0.00000824●●●●●●
266. 44053534 c.761C>T p.S254F missense 0.00000824●●●●●●
267. 44051223 c.1153G>A p.A385T 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.