SEPN1 missense variants in ExAC

SEPN1 gene summary
SEPN1 variants in

The table below lists the SEPN1 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. 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. 26142181 c.1745G>A p.R582Q missense 0.00688861●●●●●●
6. 26142081 c.1645G>A p.V549M missense 0.00298137●●●●●●
7. 26138251 c.1162A>G p.S388G missense 0.00135891●●●●●●
8. 26135083 c.550G>C p.A184P missense 0.00082852●●●●●●
9. 26131644 c.415G>A p.A139T missense 0.00071346●●●●●●
10. 26135113 c.580G>C p.A194P missense 0.00051859●●●●●●
11. 26136208 c.907G>A p.D303N missense 0.00044755●●●●●●
12. 26142151 c.1715C>A p.T572N missense 0.00039756●●●●●●
13. 26142090 c.1654G>A p.E552K missense 0.00035608●●●●●●
14. 26135249 c.716G>A p.R239H missense 0.00024965●●●●●●
15. 26136244 c.943G>A p.G315S missense 0.00017399●●●●●●
16. 26131656 c.427G>A p.E143K missense 0.00015819●●●●●●
17. 26140659 c.1592A>G p.N531S missense 0.00014197●●●●●●
18. 26138336 c.1247G>A p.R416Q missense 0.00012534●●●●●●
19. 26138335 c.1246C>T p.R416W missense 0.00012089●●●●●●
20. 26139251 c.1355T>C p.L452P missense 0.00011024●●●●●●
21. 26139191 c.1295C>T p.P432L missense 0.00010830●●●●●●
22. 26138347 c.1258G>A p.V420M missense 0.00010329●●●●●●
23. 26138197 c.1108A>T p.T370S missense 0.00007945●●●●●●
24. 26135075 c.542C>T p.S181F missense 0.00007549●●●●●●
25. 26142180 c.1744C>T p.R582W missense 0.00007460●●●●●●
26. 26131686 c.457G>A p.E153K missense 0.00007459●●●●●●
27. 26140584 c.1517C>T p.S506L missense 0.00006640●●●●●●
28. 26138339 c.1250G>A p.R417H missense 0.00006436●●●●●●
29. 26140641 c.1574T>G p.M525R missense 0.00005947●●●●●●
30. 26142195 c.1759C>G p.L587V missense 0.00005805●●●●●●
31. 26140381 c.1397G>A p.R466Q missense 0.00005804●●●●●●
32. 26136281 c.980G>A p.R327H missense 0.00005799●●●●●●
33. 26139208 c.1312G>A p.D438N missense 0.00004647●●●●●●
34. 26135529 c.760C>T p.R254W missense 0.00004182●●●●●●
35. 26135530 c.761G>A p.R254Q missense 0.00004182●●●●●●
36. 26140602 c.1535C>T p.A512V missense 0.00004156●●●●●●
37. 26136236 c.935A>G p.Q312R missense 0.00004143●●●●●●
38. 26140447 c.1463G>A p.S488N missense 0.00004143●●●●●●
39. 26131729 c.500C>T p.P167L missense 0.00004143●●●●●●
40. 26136290 c.989G>A p.R330Q missense 0.00004142●●●●●●
41. 26139259 c.1363G>T p.A455S missense 0.00003751●●●●●●
42. 26139247 c.1351C>G p.L451V missense 0.00003652●●●●●●
43. 26138218 c.1129G>A p.V377M missense 0.00003642●●●●●●
44. 26135078 c.545G>A p.R182H missense 0.00003352●●●●●●
45. 26135589 c.820G>C p.A274P missense 0.00003337●●●●●●
46. 26135264 c.731C>T p.P244L missense 0.00003335●●●●●●
47. 26135248 c.715C>T p.R239C missense 0.00003329●●●●●●
48. 26138009 c.1075A>G p.I359V missense 0.00003313●●●●●●
49. 26138327 c.1238A>C p.E413A missense 0.00002771●●●●●●
50. 26139212 c.1316G>A p.R439Q missense 0.00002758●●●●●●
51. 26140667 c.1600G>A p.V534M missense 0.00002755●●●●●●
52. 26138311 c.1222G>C p.E408Q missense 0.00002525●●●●●●
53. 26135156 c.623C>T p.P208L missense 0.00002491●●●●●●
54. 26135168 c.635C>T p.P212L missense 0.00002491●●●●●●
55. 26131644 c.415G>T p.A139S missense 0.00002489●●●●●●
56. 26131645 c.416C>T p.A139V missense 0.00002489●●●●●●
57. 26140389 c.1405C>T p.R469W missense 0.00002487●●●●●●
58. 26136277 c.976G>A p.V326I missense 0.00002485●●●●●●
59. 26137989 c.1055G>A p.S352N missense 0.00002484●●●●●●
60. 26137995 c.1061A>G p.N354S missense 0.00002484●●●●●●
61. 26138210 c.1121T>A p.V374E missense 0.00002368●●●●●●
62. 26138264 c.1175C>T p.S392L missense 0.00001866●●●●●●
63. 26135083 c.550G>A p.A184T missense 0.00001674●●●●●●
64. 26135528 c.759C>A p.H253Q missense 0.00001673●●●●●●
65. 26135245 c.712A>C p.N238H missense 0.00001664●●●●●●
66. 26135171 c.638C>T p.P213L missense 0.00001661●●●●●●
67. 26135151 c.618C>A p.F206L missense 0.00001661●●●●●●
68. 26135165 c.632C>T p.P211L missense 0.00001661●●●●●●
69. 26135200 c.667A>C p.I223L missense 0.00001660●●●●●●
70. 26136179 c.878A>G p.H293R missense 0.00001659●●●●●●
71. 26131659 c.430G>A p.E144K missense 0.00001658●●●●●●
72. 26127603 c.253A>G p.M85V missense 0.00001658●●●●●●
73. 26136283 c.982G>A p.D328N missense 0.00001657●●●●●●
74. 26142043 c.1607A>G p.H536R missense 0.00001657●●●●●●
75. 26131711 c.482G>A p.R161Q missense 0.00001657●●●●●●
76. 26140411 c.1427C>T p.S476L missense 0.00001657●●●●●●
77. 26136248 c.947A>G p.H316R missense 0.00001657●●●●●●
78. 26142064 c.1628T>A p.F543Y missense 0.00001657●●●●●●
79. 26127597 c.247G>A p.G83R missense 0.00001657●●●●●●
80. 26142058 c.1622A>G p.N541S missense 0.00001657●●●●●●
81. 26137976 c.1042G>A p.G348R missense 0.00001656●●●●●●
82. 26137991 c.1057A>T p.S353C missense 0.00001656●●●●●●
83. 26138016 c.1082A>G p.Y361C missense 0.00001656●●●●●●
84. 26138247 c.1158C>G p.I386M missense 0.00001331●●●●●●
85. 26138246 c.1157T>G p.I386S missense 0.00001316●●●●●●
86. 26138245 c.1156A>G p.I386V missense 0.00001315●●●●●●
87. 26138244 c.1155G>T p.M385I missense 0.00001310●●●●●●
88. 26138207 c.1118C>G p.S373C missense 0.00001175●●●●●●
89. 26138201 c.1112G>T p.G371V missense 0.00001160●●●●●●
90. 26138201 c.1112G>A p.G371D missense 0.00001160●●●●●●
91. 26138201 c.1112G>C p.G371A missense 0.00001160●●●●●●
92. 26139275 c.1379C>T p.S460F missense 0.00000997●●●●●●
93. 26139208 c.1312G>C p.D438H missense 0.00000929●●●●●●
94. 26139214 c.1318G>A p.A440T missense 0.00000915●●●●●●
95. 26139235 c.1339G>A p.V447M missense 0.00000902●●●●●●
96. 26140634 c.1567G>A p.V523M missense 0.00000843●●●●●●
97. 26140628 c.1561T>A p.F521I missense 0.00000839●●●●●●
98. 26135071 c.538G>T p.V180F missense 0.00000839●●●●●●
99. 26135077 c.544C>T p.R182C missense 0.00000838●●●●●●
100. 26135524 c.755T>G p.I252S missense 0.00000837●●●●●●
101. 26135113 c.580G>A p.A194T missense 0.00000836●●●●●●
102. 26135640 c.871C>T p.R291W missense 0.00000836●●●●●●
103. 26135641 c.872G>A p.R291Q missense 0.00000836●●●●●●
104. 26135529 c.760C>G p.R254G missense 0.00000836●●●●●●
105. 26135553 c.784C>T p.R262W missense 0.00000835●●●●●●
106. 26135626 c.857A>G p.Y286C missense 0.00000835●●●●●●
107. 26135554 c.785G>A p.R262Q missense 0.00000835●●●●●●
108. 26135628 c.859A>G p.T287A missense 0.00000835●●●●●●
109. 26135092 c.559G>A p.G187S missense 0.00000835●●●●●●
110. 26135577 c.808G>A p.A270T missense 0.00000834●●●●●●
111. 26135563 c.794T>A p.V265E missense 0.00000834●●●●●●
112. 26135571 c.802C>T p.R268C missense 0.00000834●●●●●●
113. 26135263 c.730C>T p.P244S missense 0.00000834●●●●●●
114. 26140616 c.1549G>A p.E517K missense 0.00000834●●●●●●
115. 26135114 c.581C>T p.A194V missense 0.00000833●●●●●●
116. 26135261 c.728C>G p.P243R missense 0.00000833●●●●●●
117. 26140613 c.1546C>G p.L516V missense 0.00000833●●●●●●
118. 26140605 c.1538G>C p.G513A missense 0.00000832●●●●●●
119. 26135237 c.704T>C p.L235P missense 0.00000832●●●●●●
120. 26140594 c.1527G>C p.Q509H missense 0.00000831●●●●●●
121. 26135223 c.690G>A p.M230I missense 0.00000831●●●●●●
122. 26135216 c.683T>C p.L228P missense 0.00000830●●●●●●
123. 26135158 c.625T>G p.F209V missense 0.00000830●●●●●●
124. 26135183 c.650T>C p.L217P missense 0.00000830●●●●●●
125. 26135159 c.626T>C p.F209S missense 0.00000830●●●●●●
126. 26127561 c.211G>A p.D71N missense 0.00000829●●●●●●
127. 26131686 c.457G>C p.E153Q missense 0.00000829●●●●●●
128. 26127605 c.255G>T p.M85I missense 0.00000829●●●●●●
129. 26140405 c.1421A>G p.E474G missense 0.00000829●●●●●●
130. 26136245 c.944G>C p.G315A missense 0.00000829●●●●●●
131. 26140380 c.1396C>T p.R466W missense 0.00000829●●●●●●
132. 26136203 c.902C>T p.P301L missense 0.00000829●●●●●●
133. 26140479 c.1495C>G p.L499V missense 0.00000829●●●●●●
134. 26140431 c.1447A>C p.N483H missense 0.00000829●●●●●●
135. 26127646 c.296T>A p.L99Q missense 0.00000829●●●●●●
136. 26127562 c.212A>G p.D71G missense 0.00000829●●●●●●
137. 26127555 c.205G>C p.G69R missense 0.00000829●●●●●●
138. 26136298 c.997G>T p.V333L missense 0.00000829●●●●●●
139. 26131735 c.506C>G p.T169S missense 0.00000829●●●●●●
140. 26136227 c.926C>G p.S309C missense 0.00000829●●●●●●
141. 26127625 c.275T>C p.F92S missense 0.00000829●●●●●●
142. 26140482 c.1498C>G p.Q500E missense 0.00000829●●●●●●
143. 26140434 c.1450G>A p.E484K missense 0.00000829●●●●●●
144. 26131662 c.433G>A p.E145K missense 0.00000829●●●●●●
145. 26140384 c.1400C>T p.T467I missense 0.00000829●●●●●●
146. 26127556 c.206G>A p.G69E missense 0.00000829●●●●●●
147. 26127592 c.242C>G p.T81S missense 0.00000829●●●●●●
148. 26142183 c.1747C>T p.R583C missense 0.00000829●●●●●●
149. 26131743 c.514A>G p.K172E missense 0.00000829●●●●●●
150. 26131726 c.497T>C p.L166P missense 0.00000829●●●●●●
151. 26140411 c.1427C>G p.S476W missense 0.00000829●●●●●●
152. 26127626 c.276C>A p.F92L missense 0.00000829●●●●●●
153. 26131685 c.456C>G p.S152R missense 0.00000829●●●●●●
154. 26142175 c.1739G>T p.G580V missense 0.00000829●●●●●●
155. 26131684 c.455G>A p.S152N missense 0.00000829●●●●●●
156. 26140390 c.1406G>T p.R469L missense 0.00000829●●●●●●
157. 26136196 c.895A>C p.S299R missense 0.00000829●●●●●●
158. 26127594 c.244G>A p.D82N missense 0.00000829●●●●●●
159. 26142184 c.1748G>A p.R583H missense 0.00000829●●●●●●
160. 26131750 c.521A>C p.K174T missense 0.00000829●●●●●●
161. 26140420 c.1436T>C p.L479P missense 0.00000829●●●●●●
162. 26127634 c.284T>C p.I95T missense 0.00000829●●●●●●
163. 26142139 c.1703C>G p.P568R missense 0.00000828●●●●●●
164. 26142142 c.1706C>G p.S569C missense 0.00000828●●●●●●
165. 26137997 c.1063A>G p.M355V missense 0.00000828●●●●●●
166. 26136297 c.996C>A p.F332L missense 0.00000828●●●●●●
167. 26137956 c.1022T>C p.V341A missense 0.00000828●●●●●●
168. 26136276 c.975C>A p.H325Q missense 0.00000828●●●●●●
169. 26142142 c.1706C>T p.S569F missense 0.00000828●●●●●●
170. 26138012 c.1078G>A p.G360S missense 0.00000828●●●●●●
171. 26137964 c.1030G>A p.E344K missense 0.00000828●●●●●●
172. 26137953 c.1019A>G p.N340S missense 0.00000828●●●●●●
173. 26136260 c.959C>T p.S320F missense 0.00000828●●●●●●
174. 26142072 c.1636A>G p.I546V missense 0.00000828●●●●●●
175. 26137983 c.1049G>A p.S350N missense 0.00000828●●●●●●
176. 26136280 c.979C>T p.R327C missense 0.00000828●●●●●●
177. 26136292 c.991C>T p.L331F missense 0.00000828●●●●●●
178. 26137953 c.1019A>T p.N340I missense 0.00000828●●●●●●
179. 26137955 c.1021G>A p.V341M missense 0.00000828●●●●●●
180. 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.