SEPN1 variants in ExAC

SEPN1 gene summary
SEPN1 variants in

The table below lists the SEPN1 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. 26131654 c.425G>A p.C142Y missense 0.81442752●●●●●●
2. 26140573 c.1506C>A p.N502K missense 0.77473229●●●●●●
3. 26131638 c.409A>G p.T137A missense 0.01287518●●●●●●
4. 26135116 c.583G>A p.A195T missense 0.01005977●●●●●●
5. 26138032 c.1092+6C>G splice site 0.00799265●●●●●●
6. 26142181 c.1745G>A p.R582Q missense 0.00688861●●●●●●
7. 26139294 c.1387+11C>T splice site 0.00656367●●●●●●
8. 26142081 c.1645G>A p.V549M missense 0.00298137●●●●●●
9. 26131655 c.426_427insGAG p.X143Glu inframe 0.00230434●●●●●●
10. 26138251 c.1162A>G p.S388G missense 0.00135891●●●●●●
11. 26135083 c.550G>C p.A184P missense 0.00082852●●●●●●
12. 26139168 c.1282-10G>A splice site 0.00074156●●●●●●
13. 26131644 c.415G>A p.A139T missense 0.00071346●●●●●●
14. 26135113 c.580G>C p.A194P missense 0.00051859●●●●●●
15. 26136208 c.907G>A p.D303N missense 0.00044755●●●●●●
16. 26142151 c.1715C>A p.T572N missense 0.00039756●●●●●●
17. 26142090 c.1654G>A p.E552K missense 0.00035608●●●●●●
18. 26135249 c.716G>A p.R239H missense 0.00024965●●●●●●
19. 26136244 c.943G>A p.G315S missense 0.00017399●●●●●●
20. 26131656 c.427G>A p.E143K missense 0.00015819●●●●●●
21. 26135244 c.711_712insA p.N238Kfs*52 frameshift 0.00014975●●●●●●
22. 26140491 c.1500+7G>A splice site 0.00014920●●●●●●
23. 26140659 c.1592A>G p.N531S missense 0.00014197●●●●●●
24. 26135063 c.538-8C>T splice site 0.00012610●●●●●●
25. 26138336 c.1247G>A p.R416Q missense 0.00012534●●●●●●
26. 26138335 c.1246C>T p.R416W missense 0.00012089●●●●●●
27. 26139251 c.1355T>C p.L452P missense 0.00011024●●●●●●
28. 26139191 c.1295C>T p.P432L missense 0.00010830●●●●●●
29. 26138347 c.1258G>A p.V420M missense 0.00010329●●●●●●
30. 26138237 c.1148_1150delGCA p.Ser384del inframe 0.00010168●●●●●●
31. 26138197 c.1108A>T p.T370S missense 0.00007945●●●●●●
32. 26135075 c.542C>T p.S181F missense 0.00007549●●●●●●
33. 26142180 c.1744C>T p.R582W missense 0.00007460●●●●●●
34. 26131686 c.457G>A p.E153K missense 0.00007459●●●●●●
35. 26140584 c.1517C>T p.S506L missense 0.00006640●●●●●●
36. 26138339 c.1250G>A p.R417H missense 0.00006436●●●●●●
37. 26140641 c.1574T>G p.M525R missense 0.00005947●●●●●●
38. 26142195 c.1759C>G p.L587V missense 0.00005805●●●●●●
39. 26140381 c.1397G>A p.R466Q missense 0.00005804●●●●●●
40. 26136281 c.980G>A p.R327H missense 0.00005799●●●●●●
41. 26135063 c.538-8C>A splice site 0.00005044●●●●●●
42. 26135064 c.538-7G>A splice site 0.00005042●●●●●●
43. 26138378 c.1281+8T>G splice site 0.00004729●●●●●●
44. 26139208 c.1312G>A p.D438N missense 0.00004647●●●●●●
45. 26139211 c.1315C>T p.R439X nonsense 0.00004613●●●●●●
46. 26135530 c.761G>A p.R254Q missense 0.00004182●●●●●●
47. 26135529 c.760C>T p.R254W missense 0.00004182●●●●●●
48. 26140602 c.1535C>T p.A512V missense 0.00004156●●●●●●
49. 26140447 c.1463G>A p.S488N missense 0.00004143●●●●●●
50. 26131729 c.500C>T p.P167L missense 0.00004143●●●●●●
51. 26136236 c.935A>G p.Q312R missense 0.00004143●●●●●●
52. 26136290 c.989G>A p.R330Q missense 0.00004142●●●●●●
53. 26138032 c.1092+6C>T splice site 0.00004141●●●●●●
54. 26138269 c.1180G>T p.E394X nonsense 0.00003902●●●●●●
55. 26139259 c.1363G>T p.A455S missense 0.00003751●●●●●●
56. 26138265 c.1176delA frameshift 0.00003733●●●●●●
57. 26139247 c.1351C>G p.L451V missense 0.00003652●●●●●●
58. 26138218 c.1129G>A p.V377M missense 0.00003642●●●●●●
59. 26135078 c.545G>A p.R182H missense 0.00003352●●●●●●
60. 26135589 c.820G>C p.A274P missense 0.00003337●●●●●●
61. 26135264 c.731C>T p.P244L missense 0.00003335●●●●●●
62. 26135248 c.715C>T p.R239C missense 0.00003329●●●●●●
63. 26131772 c.537+6T>G splice site 0.00003316●●●●●●
64. 26138009 c.1075A>G p.I359V missense 0.00003313●●●●●●
65. 26139174 c.1282-4C>T splice site 0.00003244●●●●●●
66. 26138327 c.1238A>C p.E413A missense 0.00002771●●●●●●
67. 26139212 c.1316G>A p.R439Q missense 0.00002758●●●●●●
68. 26140667 c.1600G>A p.V534M missense 0.00002755●●●●●●
69. 26138311 c.1222G>C p.E408Q missense 0.00002525●●●●●●
70. 26135156 c.623C>T p.P208L missense 0.00002491●●●●●●
71. 26135168 c.635C>T p.P212L missense 0.00002491●●●●●●
72. 26131644 c.415G>T p.A139S missense 0.00002489●●●●●●
73. 26131645 c.416C>T p.A139V missense 0.00002489●●●●●●
74. 26140389 c.1405C>T p.R469W missense 0.00002487●●●●●●
75. 26136277 c.976G>A p.V326I missense 0.00002485●●●●●●
76. 26138033 c.1092+7G>A splice site 0.00002485●●●●●●
77. 26137995 c.1061A>G p.N354S missense 0.00002484●●●●●●
78. 26137989 c.1055G>A p.S352N missense 0.00002484●●●●●●
79. 26138210 c.1121T>A p.V374E missense 0.00002368●●●●●●
80. 26139271 c.1375C>T p.Q459X nonsense 0.00001951●●●●●●
81. 26140677 c.1602+8delC splice site 0.00001917●●●●●●
82. 26138264 c.1175C>T p.S392L missense 0.00001866●●●●●●
83. 26135067 c.538-4C>G splice site 0.00001680●●●●●●
84. 26135510 c.748-7C>T splice site 0.00001678●●●●●●
85. 26135083 c.550G>A p.A184T missense 0.00001674●●●●●●
86. 26135648 c.872+7G>A splice site 0.00001674●●●●●●
87. 26135528 c.759C>A p.H253Q missense 0.00001673●●●●●●
88. 26135245 c.712A>C p.N238H missense 0.00001664●●●●●●
89. 26135151 c.618C>A p.F206L missense 0.00001661●●●●●●
90. 26135165 c.632C>T p.P211L missense 0.00001661●●●●●●
91. 26135171 c.638C>T p.P213L missense 0.00001661●●●●●●
92. 26135200 c.667A>C p.I223L missense 0.00001660●●●●●●
93. 26136179 c.878A>G p.H293R missense 0.00001659●●●●●●
94. 26127603 c.253A>G p.M85V missense 0.00001658●●●●●●
95. 26140369 c.1388-3C>T splice site 0.00001658●●●●●●
96. 26131659 c.430G>A p.E144K missense 0.00001658●●●●●●
97. 26136248 c.947A>G p.H316R missense 0.00001657●●●●●●
98. 26127597 c.247G>A p.G83R missense 0.00001657●●●●●●
99. 26137937 c.1011-8C>T splice site 0.00001657●●●●●●
100. 26131711 c.482G>A p.R161Q missense 0.00001657●●●●●●
101. 26142043 c.1607A>G p.H536R missense 0.00001657●●●●●●
102. 26140411 c.1427C>T p.S476L missense 0.00001657●●●●●●
103. 26142064 c.1628T>A p.F543Y missense 0.00001657●●●●●●
104. 26142058 c.1622A>G p.N541S missense 0.00001657●●●●●●
105. 26136283 c.982G>A p.D328N missense 0.00001657●●●●●●
106. 26131710 c.481C>T p.R161X nonsense 0.00001657●●●●●●
107. 26137991 c.1057A>T p.S353C missense 0.00001656●●●●●●
108. 26138016 c.1082A>G p.Y361C missense 0.00001656●●●●●●
109. 26137976 c.1042G>A p.G348R missense 0.00001656●●●●●●
110. 26138247 c.1158C>G p.I386M missense 0.00001331●●●●●●
111. 26138246 c.1157T>G p.I386S missense 0.00001316●●●●●●
112. 26138245 c.1156A>G p.I386V missense 0.00001315●●●●●●
113. 26138244 c.1155G>T p.M385I missense 0.00001310●●●●●●
114. 26138207 c.1118C>G p.S373C missense 0.00001175●●●●●●
115. 26138201 c.1112G>T p.G371V missense 0.00001160●●●●●●
116. 26138201 c.1112G>A p.G371D missense 0.00001160●●●●●●
117. 26138201 c.1112G>C p.G371A missense 0.00001160●●●●●●
118. 26138181 c.1093-1G>A essential splice site 0.00001080●●●●●●
119. 26139275 c.1379C>T p.S460F missense 0.00000997●●●●●●
120. 26139267 c.1371_1372insG p.Asp458GlyfsTer? frameshift 0.00000965●●●●●●
121. 26139208 c.1312G>C p.D438H missense 0.00000929●●●●●●
122. 26140670 c.1602+1G>A essential splice site 0.00000927●●●●●●
123. 26139214 c.1318G>A p.A440T missense 0.00000915●●●●●●
124. 26139235 c.1339G>A p.V447M missense 0.00000902●●●●●●
125. 26140634 c.1567G>A p.V523M missense 0.00000843●●●●●●
126. 26135071 c.538G>T p.V180F missense 0.00000839●●●●●●
127. 26140628 c.1561T>A p.F521I missense 0.00000839●●●●●●
128. 26135513 c.748-4C>G splice site 0.00000839●●●●●●
129. 26135077 c.544C>T p.R182C missense 0.00000838●●●●●●
130. 26135286 c.747+6G>T splice site 0.00000837●●●●●●
131. 26135524 c.755T>G p.I252S missense 0.00000837●●●●●●
132. 26135641 c.872G>A p.R291Q missense 0.00000836●●●●●●
133. 26135529 c.760C>G p.R254G missense 0.00000836●●●●●●
134. 26135113 c.580G>A p.A194T missense 0.00000836●●●●●●
135. 26135640 c.871C>T p.R291W missense 0.00000836●●●●●●
136. 26135627 c.858C>G p.Y286X nonsense 0.00000835●●●●●●
137. 26135098 c.565C>T p.R189X nonsense 0.00000835●●●●●●
138. 26135628 c.859A>G p.T287A missense 0.00000835●●●●●●
139. 26135553 c.784C>T p.R262W missense 0.00000835●●●●●●
140. 26135626 c.857A>G p.Y286C missense 0.00000835●●●●●●
141. 26135554 c.785G>A p.R262Q missense 0.00000835●●●●●●
142. 26135092 c.559G>A p.G187S missense 0.00000835●●●●●●
143. 26135563 c.794T>A p.V265E missense 0.00000834●●●●●●
144. 26135571 c.802C>T p.R268C missense 0.00000834●●●●●●
145. 26140616 c.1549G>A p.E517K missense 0.00000834●●●●●●
146. 26135577 c.808G>A p.A270T missense 0.00000834●●●●●●
147. 26135263 c.730C>T p.P244S missense 0.00000834●●●●●●
148. 26135261 c.728C>G p.P243R missense 0.00000833●●●●●●
149. 26140613 c.1546C>G p.L516V missense 0.00000833●●●●●●
150. 26135114 c.581C>T p.A194V missense 0.00000833●●●●●●
151. 26135237 c.704T>C p.L235P missense 0.00000832●●●●●●
152. 26140605 c.1538G>C p.G513A missense 0.00000832●●●●●●
153. 26140594 c.1527G>C p.Q509H missense 0.00000831●●●●●●
154. 26135223 c.690G>A p.M230I missense 0.00000831●●●●●●
155. 26135183 c.650T>C p.L217P missense 0.00000830●●●●●●
156. 26135159 c.626T>C p.F209S missense 0.00000830●●●●●●
157. 26127536 c.186A>G splice site 0.00000830●●●●●●
158. 26136167 c.873-7C>T splice site 0.00000830●●●●●●
159. 26135184 c.651delG p.Gly218ValfsTer? frameshift 0.00000830●●●●●●
160. 26135216 c.683T>C p.L228P missense 0.00000830●●●●●●
161. 26135158 c.625T>G p.F209V missense 0.00000830●●●●●●
162. 26142201 c.1765C>T p.Q589X nonsense 0.00000830●●●●●●
163. 26142194 c.1758_1760delCCT p.Leu588del inframe 0.00000829●●●●●●
164. 26127555 c.205G>C p.G69R missense 0.00000829●●●●●●
165. 26142183 c.1747C>T p.R583C missense 0.00000829●●●●●●
166. 26127592 c.242C>G p.T81S missense 0.00000829●●●●●●
167. 26136298 c.997G>T p.V333L missense 0.00000829●●●●●●
168. 26131750 c.521A>C p.K174T missense 0.00000829●●●●●●
169. 26140561 c.1501-7C>T splice site 0.00000829●●●●●●
170. 26140411 c.1427C>G p.S476W missense 0.00000829●●●●●●
171. 26131662 c.433G>A p.E145K missense 0.00000829●●●●●●
172. 26140364 c.1388-8_1388-7insT splice site 0.00000829●●●●●●
173. 26136227 c.926C>G p.S309C missense 0.00000829●●●●●●
174. 26127626 c.276C>A p.F92L missense 0.00000829●●●●●●
175. 26140390 c.1406G>T p.R469L missense 0.00000829●●●●●●
176. 26127556 c.206G>A p.G69E missense 0.00000829●●●●●●
177. 26131692 c.463_468delACGCTC p.Leu156_Thr157del inframe 0.00000829●●●●●●
178. 26142184 c.1748G>A p.R583H missense 0.00000829●●●●●●
179. 26127594 c.244G>A p.D82N missense 0.00000829●●●●●●
180. 26140371 c.1388-1G>C essential splice site 0.00000829●●●●●●
181. 26131684 c.455G>A p.S152N missense 0.00000829●●●●●●
182. 26140562 c.1501-6C>T splice site 0.00000829●●●●●●
183. 26140420 c.1436T>C p.L479P missense 0.00000829●●●●●●
184. 26131685 c.456C>G p.S152R missense 0.00000829●●●●●●
185. 26140567 c.1501-1G>A essential splice site 0.00000829●●●●●●
186. 26140479 c.1495C>G p.L499V missense 0.00000829●●●●●●
187. 26131735 c.506C>G p.T169S missense 0.00000829●●●●●●
188. 26140380 c.1396C>T p.R466W missense 0.00000829●●●●●●
189. 26140405 c.1421A>G p.E474G missense 0.00000829●●●●●●
190. 26131772 c.537+6T>C splice site 0.00000829●●●●●●
191. 26127561 c.211G>A p.D71N missense 0.00000829●●●●●●
192. 26140411 c.1427C>A p.S476X nonsense 0.00000829●●●●●●
193. 26131686 c.457G>C p.E153Q missense 0.00000829●●●●●●
194. 26140563 c.1501-5C>G splice site 0.00000829●●●●●●
195. 26140431 c.1447A>C p.N483H missense 0.00000829●●●●●●
196. 26131716 c.487C>T p.Q163X nonsense 0.00000829●●●●●●
197. 26136174 c.873G>C splice site 0.00000829●●●●●●
198. 26136196 c.895A>C p.S299R missense 0.00000829●●●●●●
199. 26127634 c.284T>C p.I95T missense 0.00000829●●●●●●
200. 26127605 c.255G>T p.M85I missense 0.00000829●●●●●●
201. 26131743 c.514A>G p.K172E missense 0.00000829●●●●●●
202. 26140488 c.1500+4A>G splice site 0.00000829●●●●●●
203. 26140384 c.1400C>T p.T467I missense 0.00000829●●●●●●
204. 26136245 c.944G>C p.G315A missense 0.00000829●●●●●●
205. 26142175 c.1739G>T p.G580V missense 0.00000829●●●●●●
206. 26127562 c.212A>G p.D71G missense 0.00000829●●●●●●
207. 26136319 c.1010+8C>T splice site 0.00000829●●●●●●
208. 26131676 c.447delT p.Asp150ThrfsTer? frameshift 0.00000829●●●●●●
209. 26142041 c.1605C>G splice site 0.00000829●●●●●●
210. 26140434 c.1450G>A p.E484K missense 0.00000829●●●●●●
211. 26131726 c.497T>C p.L166P missense 0.00000829●●●●●●
212. 26140482 c.1498C>G p.Q500E missense 0.00000829●●●●●●
213. 26127625 c.275T>C p.F92S missense 0.00000829●●●●●●
214. 26136318 c.1010+7G>A splice site 0.00000829●●●●●●
215. 26136203 c.902C>T p.P301L missense 0.00000829●●●●●●
216. 26127646 c.296T>A p.L99Q missense 0.00000829●●●●●●
217. 26137956 c.1022T>C p.V341A missense 0.00000828●●●●●●
218. 26136276 c.975C>A p.H325Q missense 0.00000828●●●●●●
219. 26142139 c.1703C>G p.P568R missense 0.00000828●●●●●●
220. 26142072 c.1636A>G p.I546V missense 0.00000828●●●●●●
221. 26138012 c.1078G>A p.G360S missense 0.00000828●●●●●●
222. 26137964 c.1030G>A p.E344K missense 0.00000828●●●●●●
223. 26136260 c.959C>T p.S320F missense 0.00000828●●●●●●
224. 26142142 c.1706C>G p.S569C missense 0.00000828●●●●●●
225. 26137953 c.1019A>G p.N340S missense 0.00000828●●●●●●
226. 26136292 c.991C>T p.L331F missense 0.00000828●●●●●●
227. 26137953 c.1019A>T p.N340I missense 0.00000828●●●●●●
228. 26137983 c.1049G>A p.S350N missense 0.00000828●●●●●●
229. 26136280 c.979C>T p.R327C missense 0.00000828●●●●●●
230. 26137997 c.1063A>G p.M355V missense 0.00000828●●●●●●
231. 26142142 c.1706C>T p.S569F missense 0.00000828●●●●●●
232. 26137955 c.1021G>A p.V341M missense 0.00000828●●●●●●
233. 26136297 c.996C>A p.F332L missense 0.00000828●●●●●●
234. 26136275 c.974A>G p.H325R missense 0.00000828●●●●●●

* 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.