SLC2A10 variants in ExAC

SLC2A10 gene summary
SLC2A10 variants in

The table below lists the SLC2A10 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. 45354291 c.616G>A p.A206T missense 0.10087335●●●●●●
2. 45358121 c.1541A>G p.K514R missense 0.01862509●●●●●●
3. 45354829 c.1154C>G p.A385G missense 0.01343469●●●●●●
4. 45354973 c.1288+10G>A splice site 0.01117666●●●●●●
5. 45362399 c.1552A>G p.T518A missense 0.00880575●●●●●●
6. 45362456 c.1609A>G p.I537V missense 0.00705062●●●●●●
7. 45353991 c.316G>T p.A106S missense 0.00275851●●●●●●
8. 45354349 c.674G>A p.R225H missense 0.00165374●●●●●●
9. 45354190 c.515C>T p.T172I missense 0.00081664●●●●●●
10. 45362395 c.1548G>T p.R516R splice site 0.00069195●●●●●●
11. 45362406 c.1559G>A p.S520N missense 0.00042009●●●●●●
12. 45354421 c.746A>G p.N249S missense 0.00036309●●●●●●
13. 45355497 c.1289-6C>T splice site 0.00035418●●●●●●
14. 45354636 c.961G>A p.V321M missense 0.00031362●●●●●●
15. 45354606 c.931G>A p.V311I missense 0.00030539●●●●●●
16. 45354685 c.1010G>C p.G337A missense 0.00026413●●●●●●
17. 45354274 c.599C>G p.P200R missense 0.00020665●●●●●●
18. 45355584 c.1370C>T p.A457V missense 0.00020591●●●●●●
19. 45354909 c.1234G>A p.A412T missense 0.00019223●●●●●●
20. 45362418 c.1571G>A p.R524K missense 0.00014003●●●●●●
21. 45354551 c.876C>A p.D292E missense 0.00012378●●●●●●
22. 45354456 c.781G>A p.V261I missense 0.00012370●●●●●●
23. 45354276 c.601C>T p.L201F missense 0.00011573●●●●●●
24. 45354483 c.808G>A p.V270M missense 0.00011542●●●●●●
25. 45353991 c.316G>A p.A106T missense 0.00010737●●●●●●
26. 45354179 c.504C>A p.F168L missense 0.00010723●●●●●●
27. 45354256 c.581C>T p.T194I missense 0.00009086●●●●●●
28. 45353992 c.317C>G p.A106G missense 0.00009083●●●●●●
29. 45354307 c.632C>G p.P211R missense 0.00008275●●●●●●
30. 45354351 c.676G>A p.D226N missense 0.00008268●●●●●●
31. 45354754 c.1079A>G p.N360S missense 0.00008253●●●●●●
32. 45354732 c.1057C>G p.L353V missense 0.00008252●●●●●●
33. 45354070 c.395G>A p.R132Q missense 0.00008245●●●●●●
34. 45354862 c.1187C>T p.P396L missense 0.00007463●●●●●●
35. 45354711 c.1036G>C p.G346R missense 0.00007429●●●●●●
36. 45354137 c.462C>G p.N154K missense 0.00007419●●●●●●
37. 45354063 c.388C>T p.R130W missense 0.00006596●●●●●●
38. 45354180 c.505G>A p.G169S missense 0.00005774●●●●●●
39. 45354091 c.416A>G p.Y139C missense 0.00005770●●●●●●
40. 45357995 c.1415C>T p.T472I missense 0.00005770●●●●●●
41. 45353790 c.115G>A p.D39N missense 0.00005766●●●●●●
42. 45354900 c.1225C>T p.R409C missense 0.00005002●●●●●●
43. 45354307 c.632C>T p.P211L missense 0.00004965●●●●●●
44. 45354285 c.610G>A p.G204S missense 0.00004961●●●●●●
45. 45354624 c.949G>A p.V317I missense 0.00004952●●●●●●
46. 45358127 c.1547G>A p.R516Q missense 0.00004949●●●●●●
47. 45358033 c.1453A>G p.T485A missense 0.00004944●●●●●●
48. 45358061 c.1481A>G p.Y494C missense 0.00004943●●●●●●
49. 45355538 c.1324G>C p.E442Q missense 0.00004942●●●●●●
50. 45354348 c.673C>T p.R225C missense 0.00004134●●●●●●
51. 45353913 c.238G>A p.G80R missense 0.00004131●●●●●●
52. 45362463 c.1616C>T p.A539V missense 0.00004129●●●●●●
53. 45354598 c.923C>T p.A308V missense 0.00004127●●●●●●
54. 45358127 c.1547G>C p.R516P missense 0.00004124●●●●●●
55. 45353887 c.212G>T p.C71F missense 0.00004123●●●●●●
56. 45355547 c.1333delG p.G445Efs*27 frameshift 0.00004118●●●●●●
57. 45354879 c.1204G>A p.A402T missense 0.00003326●●●●●●
58. 45354360 c.685C>T p.R229X nonsense 0.00003306●●●●●●
59. 45354366 c.691C>T p.R231W missense 0.00003306●●●●●●
60. 45354264 c.589G>T p.D197Y missense 0.00003305●●●●●●
61. 45354262 c.587A>T p.K196M missense 0.00003304●●●●●●
62. 45353989 c.314G>A p.R105H missense 0.00003304●●●●●●
63. 45353997 c.322G>A p.V108I missense 0.00003302●●●●●●
64. 45354457 c.782T>C p.V261A missense 0.00003299●●●●●●
65. 45354108 c.433G>A p.V145M missense 0.00003297●●●●●●
66. 45358036 c.1456G>T p.A486S missense 0.00003296●●●●●●
67. 45355627 c.1411+2T>A essential splice site 0.00003295●●●●●●
68. 45355565 c.1351T>G p.C451G missense 0.00003295●●●●●●
69. 45355616 c.1402G>A p.D468N missense 0.00003295●●●●●●
70. 45362433 c.1586G>A p.G529D missense 0.00003295●●●●●●
71. 45353838 c.163C>T p.L55F missense 0.00003295●●●●●●
72. 45354951 c.1276G>T p.G426W missense 0.00002572●●●●●●
73. 45354325 c.650C>T p.S217F missense 0.00002481●●●●●●
74. 45354837 c.1162C>T p.R388W missense 0.00002481●●●●●●
75. 45354346 c.671C>G p.A224G missense 0.00002480●●●●●●
76. 45354273 c.598C>T p.P200S missense 0.00002480●●●●●●
77. 45353913 c.238G>T p.G80W missense 0.00002479●●●●●●
78. 45353988 c.313C>T p.R105C missense 0.00002478●●●●●●
79. 45354552 c.877C>T p.R293C missense 0.00002475●●●●●●
80. 45354423 c.748G>A p.V250M missense 0.00002475●●●●●●
81. 45354176 c.501G>A p.M167I missense 0.00002474●●●●●●
82. 45354069 c.394C>T p.R132W missense 0.00002473●●●●●●
83. 45354085 c.410C>T p.S137F missense 0.00002473●●●●●●
84. 45353856 c.181G>A p.A61T missense 0.00002472●●●●●●
85. 45358036 c.1456G>A p.A486T missense 0.00002472●●●●●●
86. 45355545 c.1331G>A p.R444Q missense 0.00002471●●●●●●
87. 45355523 c.1309G>A p.E437K missense 0.00002471●●●●●●
88. 45355628 c.1411+3G>A splice site 0.00002471●●●●●●
89. 45355548 c.1334G>A p.G445E missense 0.00002471●●●●●●
90. 45362385 c.1548-10_1548-7delTGTC splice site 0.00002471●●●●●●
91. 45353794 c.119T>C p.F40S missense 0.00002471●●●●●●
92. 45354965 c.1288+2T>C essential splice site 0.00001750●●●●●●
93. 45354901 c.1226G>A p.R409H missense 0.00001668●●●●●●
94. 45354882 c.1207C>G p.R403G missense 0.00001663●●●●●●
95. 45354883 c.1208G>C p.R403P missense 0.00001663●●●●●●
96. 45354883 c.1208G>A p.R403Q missense 0.00001663●●●●●●
97. 45354876 c.1201C>T p.P401S missense 0.00001662●●●●●●
98. 45362469 c.1622C>T p.S541F missense 0.00001658●●●●●●
99. 45354838 c.1163G>A p.R388Q missense 0.00001654●●●●●●
100. 45354348 c.673C>A p.R225S missense 0.00001654●●●●●●
101. 45354319 c.644G>A p.R215Q missense 0.00001654●●●●●●
102. 45362466 c.1619C>T p.A540V missense 0.00001653●●●●●●
103. 45362466 c.1619C>G p.A540G missense 0.00001653●●●●●●
104. 45354814 c.1139C>A p.S380Y missense 0.00001652●●●●●●
105. 45353935 c.260C>T p.A87V missense 0.00001652●●●●●●
106. 45354708 c.1033T>C p.S345P missense 0.00001651●●●●●●
107. 45354604 c.929C>T p.S310F missense 0.00001651●●●●●●
108. 45354595 c.920T>A p.M307K missense 0.00001651●●●●●●
109. 45354235 c.560C>A p.A187D missense 0.00001651●●●●●●
110. 45354689 c.1014G>C p.Q338H missense 0.00001651●●●●●●
111. 45354661 c.986G>A p.C329Y missense 0.00001650●●●●●●
112. 45358132 c.1547+5G>A splice site 0.00001650●●●●●●
113. 45358126 c.1546C>T p.R516W missense 0.00001650●●●●●●
114. 45354201 c.526G>A p.V176I missense 0.00001650●●●●●●
115. 45354534 c.859G>A p.A287T missense 0.00001650●●●●●●
116. 45354205 c.530T>C p.L177P missense 0.00001650●●●●●●
117. 45354769 c.1094A>G p.E365G missense 0.00001650●●●●●●
118. 45354154 c.479C>G p.T160S missense 0.00001649●●●●●●
119. 45357992 c.1412G>A p.G471D missense 0.00001649●●●●●●
120. 45354159 c.484T>C p.W162R missense 0.00001649●●●●●●
121. 45354106 c.431C>T p.T144I missense 0.00001649●●●●●●
122. 45354472 c.797G>T p.G266V missense 0.00001649●●●●●●
123. 45354483 c.808G>T p.V270L missense 0.00001649●●●●●●
124. 45354466 c.791A>G p.H264R missense 0.00001649●●●●●●
125. 45354523 c.848C>A p.A283D missense 0.00001649●●●●●●
126. 45354157 c.482C>A p.P161H missense 0.00001649●●●●●●
127. 45353845 c.170G>T p.G57V missense 0.00001648●●●●●●
128. 45353672 c.5-8T>G splice site 0.00001648●●●●●●
129. 45358045 c.1465G>C p.G489R missense 0.00001648●●●●●●
130. 45362447 c.1600C>T p.R534C missense 0.00001648●●●●●●
131. 45358037 c.1457C>T p.A486V missense 0.00001648●●●●●●
132. 45355534 c.1320delT p.Val441TrpfsTer44 frameshift 0.00001647●●●●●●
133. 45353761 c.86T>G p.I29R missense 0.00001647●●●●●●
134. 45355590 c.1376A>G p.N459S missense 0.00001647●●●●●●
135. 45354971 c.1288+8G>A splice site 0.00000887●●●●●●
136. 45354971 c.1288+8G>T splice site 0.00000887●●●●●●
137. 45354949 c.1274T>C p.F425S missense 0.00000856●●●●●●
138. 45354938 c.1263T>G p.S421R missense 0.00000847●●●●●●
139. 45354906 c.1231A>G p.T411A missense 0.00000835●●●●●●
140. 45354888 c.1213C>T p.H405Y missense 0.00000832●●●●●●
141. 45354892 c.1217C>A p.A406E missense 0.00000832●●●●●●
142. 45354882 c.1207C>T p.R403W missense 0.00000832●●●●●●
143. 45354871 c.1196C>G p.P399R missense 0.00000831●●●●●●
144. 45354871 c.1196C>T p.P399L missense 0.00000831●●●●●●
145. 45354868 c.1193C>A p.P398H missense 0.00000830●●●●●●
146. 45358006 c.1426T>C p.S476P missense 0.00000829●●●●●●
147. 45354853 c.1178C>G p.S393C missense 0.00000828●●●●●●
148. 45353953 c.278G>T p.G93V missense 0.00000827●●●●●●
149. 45354357 c.682A>T p.M228L missense 0.00000827●●●●●●
150. 45354837 c.1162C>G p.R388G missense 0.00000827●●●●●●
151. 45354345 c.670G>T p.A224S missense 0.00000827●●●●●●
152. 45353901 c.226C>G p.Q76E missense 0.00000827●●●●●●
153. 45354283 c.608G>A p.G203E missense 0.00000827●●●●●●
154. 45354357 c.682A>C p.M228L missense 0.00000827●●●●●●
155. 45354831 c.1156C>T p.P386S missense 0.00000826●●●●●●
156. 45354387 c.712C>G p.L238V missense 0.00000826●●●●●●
157. 45353929 c.254T>G p.L85R missense 0.00000826●●●●●●
158. 45353994 c.319G>A p.V107M missense 0.00000826●●●●●●
159. 45354390 c.715G>A p.V239M missense 0.00000826●●●●●●
160. 45353965 c.290C>T p.S97F missense 0.00000826●●●●●●
161. 45354376 c.701T>G p.V234G missense 0.00000826●●●●●●
162. 45353929 c.254T>C p.L85P missense 0.00000826●●●●●●
163. 45353942 c.267C>G p.S89R missense 0.00000826●●●●●●
164. 45354813 c.1138T>C p.S380P missense 0.00000826●●●●●●
165. 45354243 c.568G>T p.D190Y missense 0.00000826●●●●●●
166. 45354382 c.707T>A p.L236Q missense 0.00000826●●●●●●
167. 45353922 c.247T>A p.L83M missense 0.00000826●●●●●●
168. 45354367 c.692G>A p.R231Q missense 0.00000826●●●●●●
169. 45354435 c.760G>A p.A254T missense 0.00000825●●●●●●
170. 45354703 c.1028G>A p.G343E missense 0.00000825●●●●●●
171. 45354210 c.535T>C p.S179P missense 0.00000825●●●●●●
172. 45354181 c.506G>A p.G169D missense 0.00000825●●●●●●
173. 45354150 c.475G>T p.G159C missense 0.00000825●●●●●●
174. 45354600 c.925C>G p.L309V missense 0.00000825●●●●●●
175. 45354526 c.851C>A p.T284N missense 0.00000825●●●●●●
176. 45354048 c.373G>A p.E125K missense 0.00000825●●●●●●
177. 45354472 c.797G>A p.G266E missense 0.00000825●●●●●●
178. 45354015 c.340C>T p.L114F missense 0.00000825●●●●●●
179. 45354412 c.737G>A p.G246E missense 0.00000825●●●●●●
180. 45354755 c.1080T>G p.N360K missense 0.00000825●●●●●●
181. 45354771 c.1096C>T p.P366S missense 0.00000825●●●●●●
182. 45358003 c.1423T>G p.L475V missense 0.00000825●●●●●●
183. 45354643 c.968T>C p.M323T missense 0.00000825●●●●●●
184. 45354157 c.482C>T p.P161L missense 0.00000825●●●●●●
185. 45354723 c.1048G>A p.D350N missense 0.00000825●●●●●●
186. 45354587 c.912T>G p.C304W missense 0.00000825●●●●●●
187. 45354553 c.878G>A p.R293H missense 0.00000825●●●●●●
188. 45354677 c.1002T>A p.N334K missense 0.00000825●●●●●●
189. 45354213 c.538C>T p.L180F missense 0.00000825●●●●●●
190. 45354057 c.382G>A p.G128R missense 0.00000825●●●●●●
191. 45354232 c.557C>T p.P186L missense 0.00000825●●●●●●
192. 45354028 c.353C>T p.A118V missense 0.00000825●●●●●●
193. 45354532 c.857C>T p.T286I missense 0.00000825●●●●●●
194. 45354054 c.379G>A p.V127M missense 0.00000825●●●●●●
195. 45354707 c.1032_1033delCT p.Ser345TrpfsTer16 frameshift 0.00000825●●●●●●
196. 45354780 c.1105T>C p.S369P missense 0.00000825●●●●●●
197. 45354644 c.969G>A p.M323I missense 0.00000825●●●●●●
198. 45354670 c.995T>C p.V332A missense 0.00000825●●●●●●
199. 45354562 c.887G>C p.R296P missense 0.00000825●●●●●●
200. 45354459 c.784G>A p.G262S missense 0.00000825●●●●●●
201. 45354006 c.331G>A p.A111T missense 0.00000825●●●●●●
202. 45362456 c.1609A>T p.I537F missense 0.00000825●●●●●●
203. 45354768 c.1093G>A p.E365K missense 0.00000825●●●●●●
204. 45354154 c.479C>T p.T160I missense 0.00000825●●●●●●
205. 45354684 c.1009G>A p.G337R missense 0.00000825●●●●●●
206. 45354042 c.367G>A p.V123M missense 0.00000825●●●●●●
207. 45354676 c.1001A>G p.N334S missense 0.00000825●●●●●●
208. 45354780 c.1105T>A p.S369T missense 0.00000825●●●●●●
209. 45354574 c.899T>G p.L300W missense 0.00000825●●●●●●
210. 45354010 c.335T>G p.I112S missense 0.00000825●●●●●●
211. 45354735 c.1060C>G p.P354A missense 0.00000825●●●●●●
212. 45354659 c.984C>A p.S328R missense 0.00000825●●●●●●
213. 45354627 c.952A>G p.S318G missense 0.00000825●●●●●●
214. 45354562 c.887G>A p.R296H missense 0.00000825●●●●●●
215. 45353806 c.131G>T p.C44F missense 0.00000824●●●●●●
216. 45362448 c.1601G>A p.R534H missense 0.00000824●●●●●●
217. 45353700 c.25C>A p.P9T missense 0.00000824●●●●●●
218. 45358045 c.1465G>A p.G489S missense 0.00000824●●●●●●
219. 45354130 c.455C>T p.A152V missense 0.00000824●●●●●●
220. 45355600 c.1386C>G p.I462M missense 0.00000824●●●●●●
221. 45357988 c.1412-4C>G splice site 0.00000824●●●●●●
222. 45355500 c.1289-3T>G splice site 0.00000824●●●●●●
223. 45358115 c.1535T>C p.F512S missense 0.00000824●●●●●●
224. 45355589 c.1375A>G p.N459D missense 0.00000824●●●●●●
225. 45355533 c.1319C>T p.P440L missense 0.00000824●●●●●●
226. 45354105 c.430A>T p.T144S missense 0.00000824●●●●●●
227. 45357989 c.1412-3C>T splice site 0.00000824●●●●●●
228. 45353681 c.6C>T splice site 0.00000824●●●●●●
229. 45353812 c.137A>G p.E46G missense 0.00000824●●●●●●
230. 45362450 c.1603A>G p.I535V missense 0.00000824●●●●●●
231. 45362424 c.1577A>C p.N526T missense 0.00000824●●●●●●
232. 45358069 c.1489G>A p.V497I missense 0.00000824●●●●●●
233. 45353742 c.67G>A p.G23S missense 0.00000824●●●●●●
234. 45355601 c.1387A>C p.S463R missense 0.00000824●●●●●●
235. 45354135 c.460A>G p.N154D missense 0.00000824●●●●●●
236. 45354092 c.417T>A p.Y139X nonsense 0.00000824●●●●●●
237. 45355506 c.1292C>A p.T431N missense 0.00000824●●●●●●
238. 45353779 c.104C>T p.P35L missense 0.00000824●●●●●●
239. 45358095 c.1515G>C p.L505F missense 0.00000824●●●●●●
240. 45353749 c.74A>C p.E25A missense 0.00000824●●●●●●
241. 45357992 c.1412G>T p.G471V missense 0.00000824●●●●●●
242. 45355629 c.1411+4A>G splice site 0.00000824●●●●●●
243. 45355510 c.1296G>T p.W432C missense 0.00000824●●●●●●
244. 45355551 c.1337G>C p.R446T missense 0.00000824●●●●●●
245. 45358033 c.1453_1454insGG p.Thr485ArgfsTer25 frameshift 0.00000824●●●●●●
246. 45353791 c.116A>G p.D39G missense 0.00000824●●●●●●
247. 45358026 c.1446C>G p.Y482X nonsense 0.00000824●●●●●●
248. 45355593 c.1379T>C p.L460P missense 0.00000824●●●●●●
249. 45353760 c.85A>C p.I29L missense 0.00000824●●●●●●
250. 45358114 c.1534T>C p.F512L missense 0.00000824●●●●●●
251. 45358000 c.1420G>A p.G474S missense 0.00000824●●●●●●
252. 45355617 c.1403A>C p.D468A missense 0.00000824●●●●●●
253. 45355554 c.1340C>G p.A447G missense 0.00000824●●●●●●
254. 45355511 c.1297C>T p.L433F missense 0.00000824●●●●●●
255. 45354096 c.421G>T p.A141S 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.