SLC2A10 missense variants in ExAC

SLC2A10 gene summary
SLC2A10 variants in

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