SLC10A2 variants in ExAC

SLC10A2 gene summary
SLC10A2 variants in

The table below lists the SLC10A2 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. 103705044 c.511T>G p.S171A missense 0.86098836●●●●●●
2. 103718308 c.292G>A p.V98I missense 0.02754070●●●●●●
3. 103710635 c.475G>A p.V159I missense 0.01794868●●●●●●
4. 103701690 c.868C>T p.P290S missense 0.00954853●●●●●●
5. 103701672 c.886T>C p.F296L missense 0.00429238●●●●●●
6. 103701648 c.910T>C p.F304L missense 0.00251273●●●●●●
7. 103718406 c.194C>T p.P65L missense 0.00151578●●●●●●
8. 103718410 c.190C>T p.R64W missense 0.00115323●●●●●●
9. 103710685 c.425C>T p.P142L missense 0.00094828●●●●●●
10. 103701773 c.785C>T p.T262M missense 0.00051129●●●●●●
11. 103701799 c.762-3T>C splice site 0.00049676●●●●●●
12. 103710695 c.415G>A p.G139R missense 0.00048673●●●●●●
13. 103718520 c.80A>G p.N27S missense 0.00048618●●●●●●
14. 103710648 c.462C>A p.D154E missense 0.00046154●●●●●●
15. 103718468 c.132G>C p.L44F missense 0.00041185●●●●●●
16. 103718331 c.269T>C p.F90S missense 0.00039543●●●●●●
17. 103718575 c.25G>C p.D9H missense 0.00025126●●●●●●
18. 103718403 c.197G>A p.W66X nonsense 0.00023065●●●●●●
19. 103704999 c.556delT p.Trp186GlyfsTer23 frameshift 0.00020614●●●●●●
20. 103718301 c.299T>C p.V100A missense 0.00018123●●●●●●
21. 103710650 c.460G>A p.D154N missense 0.00016483●●●●●●
22. 103705055 c.500C>T p.T167I missense 0.00015697●●●●●●
23. 103704995 c.560C>T p.P187L missense 0.00015667●●●●●●
24. 103705040 c.515T>C p.L172P missense 0.00015666●●●●●●
25. 103718370 c.230G>A p.G77E missense 0.00015654●●●●●●
26. 103710731 c.379G>A p.V127I missense 0.00014043●●●●●●
27. 103710679 c.431G>A p.C144Y missense 0.00014016●●●●●●
28. 103701723 c.835A>T p.T279S missense 0.00013184●●●●●●
29. 103701788 c.770C>T p.T257M missense 0.00012391●●●●●●
30. 103703713 c.655G>A p.A219T missense 0.00012389●●●●●●
31. 103718287 c.313T>C p.C105R missense 0.00012359●●●●●●
32. 103718253 c.347C>T p.A116V missense 0.00011543●●●●●●
33. 103704998 c.557G>A p.W186X nonsense 0.00008246●●●●●●
34. 103704987 c.568G>A p.A190T missense 0.00007422●●●●●●
35. 103701689 c.869C>T p.P290L missense 0.00007415●●●●●●
36. 103703698 c.670C>T p.P224S missense 0.00006608●●●●●●
37. 103718589 c.11C>T p.P4L missense 0.00005944●●●●●●
38. 103703764 c.604G>A p.A202T missense 0.00005797●●●●●●
39. 103701792 c.766C>T p.R256X nonsense 0.00005788●●●●●●
40. 103703723 c.645G>T p.L215F missense 0.00005782●●●●●●
41. 103710697 c.413T>G p.L138R missense 0.00005775●●●●●●
42. 103718278 c.322G>A p.G108R missense 0.00005769●●●●●●
43. 103701670 c.888C>G p.F296L missense 0.00005767●●●●●●
44. 103718323 c.277C>T p.L93F missense 0.00005766●●●●●●
45. 103718461 c.139T>G p.F47V missense 0.00005766●●●●●●
46. 103718455 c.145dupA p.Met49AsnfsTer43 frameshift 0.00005766●●●●●●
47. 103718557 c.43T>C p.S15P missense 0.00004966●●●●●●
48. 103710721 c.389C>T p.T130I missense 0.00004953●●●●●●
49. 103701758 c.800C>T p.T267M missense 0.00004946●●●●●●
50. 103718359 c.241C>T p.L81F missense 0.00004943●●●●●●
51. 103718421 c.179G>A p.G60E missense 0.00004942●●●●●●
52. 103718443 c.157G>A p.V53M missense 0.00004942●●●●●●
53. 103703764 c.604G>T p.A202S missense 0.00004141●●●●●●
54. 103710722 c.388A>T p.T130S missense 0.00004128●●●●●●
55. 103698494 c.1036G>C p.D346H missense 0.00004123●●●●●●
56. 103718526 c.74A>G p.N25S missense 0.00004121●●●●●●
57. 103718419 c.181C>T p.H61Y missense 0.00004119●●●●●●
58. 103718597 c.3G>C p.M1I missense 0.00003420●●●●●●
59. 103703631 c.737G>C p.R246T missense 0.00003319●●●●●●
60. 103701791 c.767G>A p.R256Q missense 0.00003306●●●●●●
61. 103704975 c.580_583delCTTA p.Leu194LysfsTer14 frameshift 0.00003299●●●●●●
62. 103705048 c.507_515delGGTTTCTCT p.Val170_Leu172del inframe 0.00003298●●●●●●
63. 103710679 c.431G>T p.C144F missense 0.00003298●●●●●●
64. 103705038 c.517G>A p.V173I missense 0.00003298●●●●●●
65. 103710656 c.454T>C p.W152R missense 0.00003297●●●●●●
66. 103718268 c.332C>T p.A111V missense 0.00003297●●●●●●
67. 103718319 c.281C>T p.P94L missense 0.00003295●●●●●●
68. 103718409 c.191G>A p.R64Q missense 0.00003295●●●●●●
69. 103718400 c.200G>A p.G67D missense 0.00003295●●●●●●
70. 103718493 c.107C>T p.T36M missense 0.00003295●●●●●●
71. 103703609 c.759C>G p.Y253X nonsense 0.00002493●●●●●●
72. 103703622 c.746G>A p.G249D missense 0.00002490●●●●●●
73. 103703642 c.726delT p.Leu243PhefsTer63 frameshift 0.00002489●●●●●●
74. 103703638 c.730C>A p.L244M missense 0.00002489●●●●●●
75. 103703745 c.623T>C p.I208T missense 0.00002478●●●●●●
76. 103718236 c.364G>A p.D122N missense 0.00002477●●●●●●
77. 103718242 c.358G>A p.D120N missense 0.00002475●●●●●●
78. 103710670 c.440T>A p.I147N missense 0.00002473●●●●●●
79. 103710631 c.479T>C p.I160T missense 0.00002472●●●●●●
80. 103701702 c.856G>A p.V286I missense 0.00002472●●●●●●
81. 103701743 c.815C>A p.T272N missense 0.00002472●●●●●●
82. 103701678 c.880A>G p.S294G missense 0.00002472●●●●●●
83. 103710615 c.495A>T p.I165I splice site 0.00002472●●●●●●
84. 103701663 c.895G>A p.A299T missense 0.00002472●●●●●●
85. 103701696 c.862A>T p.T288S missense 0.00002472●●●●●●
86. 103718305 c.295G>T p.V99L missense 0.00002471●●●●●●
87. 103718464 c.136A>G p.M46V missense 0.00002471●●●●●●
88. 103698612 c.920-2A>G essential splice site 0.00001692●●●●●●
89. 103698605 c.925G>C p.V309L missense 0.00001684●●●●●●
90. 103703783 c.586-1G>A essential splice site 0.00001679●●●●●●
91. 103698577 c.953dupA p.Asn318LysfsTer21 frameshift 0.00001665●●●●●●
92. 103703601 c.761+6G>T splice site 0.00001663●●●●●●
93. 103703603 c.761+4T>A splice site 0.00001662●●●●●●
94. 103703769 c.599C>T p.A200V missense 0.00001658●●●●●●
95. 103703652 c.716C>A p.S239Y missense 0.00001657●●●●●●
96. 103703658 c.710G>T p.G237V missense 0.00001655●●●●●●
97. 103703759 c.609C>G p.I203M missense 0.00001655●●●●●●
98. 103710732 c.378C>T splice site 0.00001652●●●●●●
99. 103718226 c.374T>G p.L125R missense 0.00001652●●●●●●
100. 103718239 c.361G>A p.G121S missense 0.00001651●●●●●●
101. 103718242 c.358G>C p.D120H missense 0.00001650●●●●●●
102. 103710698 c.412C>T p.L138F missense 0.00001650●●●●●●
103. 103710703 c.407T>C p.L136P missense 0.00001650●●●●●●
104. 103705008 c.547A>C p.N183H missense 0.00001649●●●●●●
105. 103705043 c.512C>T p.S171F missense 0.00001649●●●●●●
106. 103705001 c.554A>T p.K185I missense 0.00001649●●●●●●
107. 103710676 c.434T>C p.L145P missense 0.00001649●●●●●●
108. 103698485 c.1045T>C p.Ter349GlnextTer17 nonsense 0.00001649●●●●●●
109. 103698506 c.1024G>A p.G342R missense 0.00001649●●●●●●
110. 103718250 c.350A>C p.Y117S missense 0.00001649●●●●●●
111. 103701647 c.911T>G p.F304C missense 0.00001648●●●●●●
112. 103718389 c.211G>A p.G71S missense 0.00001648●●●●●●
113. 103718292 c.308T>C p.I103T missense 0.00001648●●●●●●
114. 103718521 c.79A>G p.N27D missense 0.00001648●●●●●●
115. 103710626 c.484T>C p.Y162H missense 0.00001648●●●●●●
116. 103701641 c.917G>A p.G306E missense 0.00001648●●●●●●
117. 103701749 c.809G>A p.C270Y missense 0.00001648●●●●●●
118. 103718500 c.100C>A p.L34I missense 0.00001648●●●●●●
119. 103701720 c.838C>G p.P280A missense 0.00001648●●●●●●
120. 103718383 c.217C>T p.L73F missense 0.00001648●●●●●●
121. 103701667 c.891G>C p.Q297H missense 0.00001648●●●●●●
122. 103718467 c.133G>A p.V45M missense 0.00001647●●●●●●
123. 103718416 c.184A>G p.I62V missense 0.00001647●●●●●●
124. 103703787 c.586-5T>C splice site 0.00000883●●●●●●
125. 103718597 c.3G>A p.Met1? missense 0.00000855●●●●●●
126. 103718592 c.8A>T p.D3V missense 0.00000851●●●●●●
127. 103718590 c.10C>A p.P4T missense 0.00000849●●●●●●
128. 103718586 c.14A>G p.N5S missense 0.00000847●●●●●●
129. 103698611 c.920-1G>T essential splice site 0.00000844●●●●●●
130. 103718581 c.19T>G p.C7G missense 0.00000844●●●●●●
131. 103718579 c.21T>G p.C7W missense 0.00000842●●●●●●
132. 103703783 c.586-1G>C essential splice site 0.00000840●●●●●●
133. 103698592 c.938A>G p.K313R missense 0.00000838●●●●●●
134. 103698575 c.955A>C p.K319Q missense 0.00000832●●●●●●
135. 103698571 c.959C>T p.A320V missense 0.00000831●●●●●●
136. 103703601 c.761+6G>C splice site 0.00000831●●●●●●
137. 103698572 c.958G>A p.A320T missense 0.00000831●●●●●●
138. 103703611 c.757T>C p.Y253H missense 0.00000831●●●●●●
139. 103703603 c.761+4T>G splice site 0.00000831●●●●●●
140. 103703632 c.736A>G p.R246G missense 0.00000830●●●●●●
141. 103703625 c.743C>G p.A248G missense 0.00000830●●●●●●
142. 103703629 c.739A>G p.I247V missense 0.00000830●●●●●●
143. 103703619 c.749T>G p.L250R missense 0.00000830●●●●●●
144. 103703647 c.721G>T p.G241W missense 0.00000829●●●●●●
145. 103703770 c.598G>A p.A200T missense 0.00000829●●●●●●
146. 103701797 c.762-1G>C essential splice site 0.00000828●●●●●●
147. 103718556 c.44C>G p.S15C missense 0.00000827●●●●●●
148. 103698548 c.982A>G p.N328D missense 0.00000827●●●●●●
149. 103703668 c.700C>G p.P234A missense 0.00000827●●●●●●
150. 103698554 c.976A>G p.K326E missense 0.00000827●●●●●●
151. 103698555 c.975C>G p.S325R missense 0.00000827●●●●●●
152. 103705063 c.497-5T>C splice site 0.00000827●●●●●●
153. 103710739 c.378-7C>T splice site 0.00000827●●●●●●
154. 103703662 c.706G>A p.A236T missense 0.00000827●●●●●●
155. 103703698 c.670C>A p.P224T missense 0.00000826●●●●●●
156. 103703737 c.631G>A p.V211I missense 0.00000826●●●●●●
157. 103718227 c.373C>G p.L125V missense 0.00000826●●●●●●
158. 103705052 c.503C>T p.S168F missense 0.00000826●●●●●●
159. 103703685 c.683T>C p.I228T missense 0.00000826●●●●●●
160. 103703713 c.655G>C p.A219P missense 0.00000826●●●●●●
161. 103705047 c.508G>T p.V170F missense 0.00000826●●●●●●
162. 103703691 c.677T>A p.L226Q missense 0.00000826●●●●●●
163. 103703689 c.679_680delTG p.Trp227AspfsTer19 frameshift 0.00000826●●●●●●
164. 103710727 c.383G>T p.S128I missense 0.00000826●●●●●●
165. 103718228 c.372C>A p.D124E missense 0.00000826●●●●●●
166. 103703726 c.642A>G p.I214M missense 0.00000826●●●●●●
167. 103718547 c.53C>G p.S18C missense 0.00000826●●●●●●
168. 103703749 c.619C>T p.L207F missense 0.00000826●●●●●●
169. 103703691 c.677T>G p.L226R missense 0.00000826●●●●●●
170. 103705047 c.508G>A p.V170I missense 0.00000826●●●●●●
171. 103703736 c.632T>C p.V211A missense 0.00000826●●●●●●
172. 103703730 c.638G>A p.G213E missense 0.00000826●●●●●●
173. 103718548 c.52T>C p.S18P missense 0.00000826●●●●●●
174. 103710736 c.378-4T>C splice site 0.00000826●●●●●●
175. 103704992 c.563A>C p.Q188P missense 0.00000825●●●●●●
176. 103710707 c.403C>A p.L135M missense 0.00000825●●●●●●
177. 103710690 c.420G>A p.M140I missense 0.00000825●●●●●●
178. 103704978 c.577A>G p.I193V missense 0.00000825●●●●●●
179. 103718248 c.352T>A p.W118R missense 0.00000825●●●●●●
180. 103718539 c.61G>A p.V21I missense 0.00000825●●●●●●
181. 103704966 c.585+4_585+7delAGTA splice site 0.00000825●●●●●●
182. 103701774 c.784A>C p.T262P missense 0.00000825●●●●●●
183. 103704996 c.559C>T p.P187S missense 0.00000825●●●●●●
184. 103705011 c.544G>A p.V182I missense 0.00000825●●●●●●
185. 103698491 c.1039G>A p.E347K missense 0.00000825●●●●●●
186. 103710697 c.413T>A p.L138H missense 0.00000825●●●●●●
187. 103704976 c.579A>G p.I193M missense 0.00000825●●●●●●
188. 103704966 c.585+4delA splice site 0.00000825●●●●●●
189. 103704969 c.585+1G>T essential splice site 0.00000825●●●●●●
190. 103705016 c.539T>G p.M180R missense 0.00000825●●●●●●
191. 103718247 c.353G>A p.W118X nonsense 0.00000825●●●●●●
192. 103704989 c.566A>G p.K189R missense 0.00000825●●●●●●
193. 103705004 c.551A>G p.H184R missense 0.00000825●●●●●●
194. 103698526 c.1004C>A p.S335X nonsense 0.00000825●●●●●●
195. 103698526 c.1004C>T p.S335L missense 0.00000825●●●●●●
196. 103710694 c.416G>A p.G139E missense 0.00000825●●●●●●
197. 103710709 c.401C>T p.T134I missense 0.00000825●●●●●●
198. 103701768 c.790A>G p.M264V missense 0.00000825●●●●●●
199. 103704987 c.568G>C p.A190P missense 0.00000825●●●●●●
200. 103718452 c.148G>A p.G50R missense 0.00000824●●●●●●
201. 103710609 c.496+5G>A splice site 0.00000824●●●●●●
202. 103710612 c.496+2T>C essential splice site 0.00000824●●●●●●
203. 103710671 c.439A>T p.I147F missense 0.00000824●●●●●●
204. 103701737 c.821T>C p.V274A missense 0.00000824●●●●●●
205. 103718463 c.137T>C p.M46T missense 0.00000824●●●●●●
206. 103718435 c.165C>G p.I55M missense 0.00000824●●●●●●
207. 103718472 c.128C>T p.A43V missense 0.00000824●●●●●●
208. 103718263 c.337A>G p.N113D missense 0.00000824●●●●●●
209. 103718282 c.318C>A p.C106X nonsense 0.00000824●●●●●●
210. 103698483 c.1047G>C p.Ter349TyrextTer17 nonsense 0.00000824●●●●●●
211. 103701695 c.863C>T p.T288I missense 0.00000824●●●●●●
212. 103701668 c.890A>T p.Q297L missense 0.00000824●●●●●●
213. 103718428 c.172T>C p.F58L missense 0.00000824●●●●●●
214. 103710611 c.496+3A>T splice site 0.00000824●●●●●●
215. 103718307 c.293T>C p.V98A missense 0.00000824●●●●●●
216. 103701765 c.793C>T p.Q265X nonsense 0.00000824●●●●●●
217. 103701728 c.830C>G p.S277C missense 0.00000824●●●●●●
218. 103710632 c.478delA p.Ile160PhefsTer6 frameshift 0.00000824●●●●●●
219. 103701750 c.808T>A p.C270S missense 0.00000824●●●●●●
220. 103701740 c.818T>C p.I273T missense 0.00000824●●●●●●
221. 103701660 c.898T>C p.F300L missense 0.00000824●●●●●●
222. 103701641 c.917G>C p.G306A missense 0.00000824●●●●●●
223. 103718437 c.163A>C p.I55L missense 0.00000824●●●●●●
224. 103718415 c.185T>G p.I62R missense 0.00000824●●●●●●
225. 103718293 c.307A>G p.I103V missense 0.00000824●●●●●●
226. 103718284 c.316T>A p.C106S missense 0.00000824●●●●●●
227. 103705035 c.520G>T p.V174F missense 0.00000824●●●●●●
228. 103718304 c.296T>G p.V99G missense 0.00000824●●●●●●
229. 103701711 c.847C>T p.L283F missense 0.00000824●●●●●●
230. 103701654 c.904G>A p.A302T missense 0.00000824●●●●●●
231. 103710668 c.442T>G p.Y148D missense 0.00000824●●●●●●
232. 103701701 c.857T>G p.V286G missense 0.00000824●●●●●●
233. 103718365 c.235A>G p.M79V missense 0.00000824●●●●●●
234. 103701703 c.855delC p.Val286TyrfsTer20 frameshift 0.00000824●●●●●●
235. 103701767 c.791T>C p.M264T missense 0.00000824●●●●●●
236. 103710628 c.482C>G p.P161R missense 0.00000824●●●●●●
237. 103701689 c.869C>G p.P290R missense 0.00000824●●●●●●
238. 103701665 c.893T>C p.L298P missense 0.00000824●●●●●●
239. 103718446 c.154A>T p.N52Y missense 0.00000824●●●●●●
240. 103718298 c.302T>A p.L101H missense 0.00000824●●●●●●
241. 103718284 c.316T>C p.C106R missense 0.00000824●●●●●●
242. 103718296 c.304A>G p.I102V missense 0.00000824●●●●●●
243. 103701729 c.829T>G p.S277A missense 0.00000824●●●●●●
244. 103718531 c.69G>C p.E23D missense 0.00000824●●●●●●
245. 103701643 c.915A>T p.L305F missense 0.00000824●●●●●●
246. 103718447 c.153C>A p.C51X nonsense 0.00000824●●●●●●
247. 103701636 c.919+3A>G splice site 0.00000824●●●●●●
248. 103718392 c.208G>A p.V70I missense 0.00000824●●●●●●
249. 103701750 c.808T>C p.C270R missense 0.00000824●●●●●●
250. 103701683 c.875T>C p.I292T missense 0.00000824●●●●●●
251. 103710638 c.472A>G p.I158V missense 0.00000824●●●●●●
252. 103701692 c.866T>A p.F289Y 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.