SCN1B variants in ExAC

SCN1B gene summary
SCN1B variants in

The table below lists the SCN1B 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. 35524607 c.412G>A p.V138I missense 0.01168367●●●●●●
2. 35530617 c.*5+7C>T splice site 0.00057175●●●●●●
3. 35530580 c.632G>A p.C211Y missense 0.00049492●●●●●●
4. 35530160 c.588T>C p.N196N splice site 0.00034603●●●●●●
5. 35530138 c.566C>T p.T189M missense 0.00017299●●●●●●
6. 35524482 c.287G>A p.R96Q missense 0.00009061●●●●●●
7. 35530029 c.457G>A p.D153N missense 0.00006590●●●●●●
8. 35523605 c.207+7G>A splice site 0.00004958●●●●●●
9. 35523525 c.134G>A p.R45H missense 0.00004944●●●●●●
10. 35524562 c.367G>A p.V123I missense 0.00004942●●●●●●
11. 35530618 c.*5+8G>A splice site 0.00004145●●●●●●
12. 35530588 c.640G>A p.V214I missense 0.00004126●●●●●●
13. 35523512 c.121A>G p.I41V missense 0.00004120●●●●●●
14. 35530018 c.449-3C>A splice site 0.00004119●●●●●●
15. 35524461 c.266G>A p.R89H missense 0.00003295●●●●●●
16. 35530531 c.591-8C>T splice site 0.00002478●●●●●●
17. 35524651 c.448+8G>A splice site 0.00002476●●●●●●
18. 35524651 c.448+8G>C splice site 0.00002476●●●●●●
19. 35530583 c.635C>T p.T212M missense 0.00002475●●●●●●
20. 35530571 c.623A>T p.K208I missense 0.00002474●●●●●●
21. 35524547 c.352G>T p.D118Y missense 0.00002471●●●●●●
22. 35523604 c.207+6C>T splice site 0.00001653●●●●●●
23. 35530586 c.638G>A p.G213D missense 0.00001650●●●●●●
24. 35523446 c.55G>A p.G19R missense 0.00001649●●●●●●
25. 35524600 c.405C>G p.N135K missense 0.00001648●●●●●●
26. 35524409 c.214C>T p.R72C missense 0.00001648●●●●●●
27. 35530132 c.560C>A p.A187D missense 0.00001648●●●●●●
28. 35523482 c.91G>A p.V31M missense 0.00001648●●●●●●
29. 35524460 c.265C>T p.R89C missense 0.00001647●●●●●●
30. 35530060 c.488T>C p.M163T missense 0.00001647●●●●●●
31. 35530041 c.469A>G p.I157V missense 0.00001647●●●●●●
32. 35524463 c.268G>A p.V90M missense 0.00001647●●●●●●
33. 35524481 c.286C>T p.R96W missense 0.00001647●●●●●●
34. 35530059 c.487A>T p.M163L missense 0.00001647●●●●●●
35. 35530039 c.467C>T p.S156F missense 0.00001647●●●●●●
36. 35530600 c.652delG p.Glu218AsnfsTer75 frameshift 0.00000826●●●●●●
37. 35530602 c.654A>T p.E218D missense 0.00000826●●●●●●
38. 35523427 c.41-5C>T splice site 0.00000825●●●●●●
39. 35530541 c.593C>T p.S198L missense 0.00000825●●●●●●
40. 35530582 c.634A>T p.T212S missense 0.00000825●●●●●●
41. 35524634 c.439G>A p.V147M missense 0.00000825●●●●●●
42. 35524650 c.448+7C>T splice site 0.00000825●●●●●●
43. 35530555 c.607A>G p.I203V missense 0.00000825●●●●●●
44. 35524396 c.208-7delC splice site 0.00000825●●●●●●
45. 35524398 c.208-5C>T splice site 0.00000825●●●●●●
46. 35530575 c.627G>C p.E209D missense 0.00000825●●●●●●
47. 35523476 c.85G>A p.E29K missense 0.00000824●●●●●●
48. 35530044 c.472G>C p.V158L missense 0.00000824●●●●●●
49. 35524569 c.374G>A p.R125H missense 0.00000824●●●●●●
50. 35524553 c.358G>A p.E120K missense 0.00000824●●●●●●
51. 35523542 c.151G>A p.A51T missense 0.00000824●●●●●●
52. 35530014 c.449-7C>A splice site 0.00000824●●●●●●
53. 35524402 c.208-1G>A essential splice site 0.00000824●●●●●●
54. 35523458 c.67G>A p.E23K missense 0.00000824●●●●●●
55. 35530162 c.590C>T p.A197V missense 0.00000824●●●●●●
56. 35530128 c.556G>A p.A186T missense 0.00000824●●●●●●
57. 35523494 c.103A>C p.T35P missense 0.00000824●●●●●●
58. 35530066 c.494T>G p.V165G missense 0.00000824●●●●●●
59. 35524610 c.415G>A p.V139I missense 0.00000824●●●●●●
60. 35524410 c.215G>A p.R72H missense 0.00000824●●●●●●
61. 35523557 c.166G>A p.E56K missense 0.00000824●●●●●●
62. 35524575 c.380_382delTCT p.Phe129del inframe 0.00000824●●●●●●
63. 35523460 c.69G>C p.E23D missense 0.00000824●●●●●●
64. 35530137 c.565A>G p.T189A missense 0.00000824●●●●●●
65. 35530129 c.557C>T p.A186V missense 0.00000824●●●●●●
66. 35530047 c.475T>C p.S159P missense 0.00000824●●●●●●
67. 35530027 c.455G>C p.R152T missense 0.00000824●●●●●●
68. 35524524 c.329A>G p.N110S missense 0.00000824●●●●●●
69. 35524561 c.366C>A p.H122Q missense 0.00000824●●●●●●
70. 35524449 c.254G>A p.R85H missense 0.00000824●●●●●●
71. 35523512 c.121A>T p.I41F missense 0.00000824●●●●●●
72. 35530083 c.511A>G p.T171A missense 0.00000824●●●●●●
73. 35524625 c.430A>G p.I144V missense 0.00000824●●●●●●
74. 35524454 c.259G>A p.E87K missense 0.00000824●●●●●●
75. 35523468 c.77C>T p.S26L missense 0.00000824●●●●●●
76. 35523455 c.64G>T p.V22L missense 0.00000824●●●●●●
77. 35523527 c.136C>T p.R46C missense 0.00000824●●●●●●
78. 35530143 c.571A>C p.T191P missense 0.00000824●●●●●●
79. 35524558 c.363C>G p.C121W missense 0.00000824●●●●●●
80. 35523524 c.133C>T p.R45C missense 0.00000824●●●●●●
81. 35530013 c.449-8C>T splice site 0.00000824●●●●●●
82. 35523557 c.166G>T p.E56X nonsense 0.00000824●●●●●●
83. 35524424 c.229G>A p.V77M missense 0.00000824●●●●●●
84. 35530131 c.559G>C p.A187P missense 0.00000824●●●●●●
85. 35530110 c.538T>C p.Y180H missense 0.00000824●●●●●●
86. 35524627 c.432T>G p.I144M 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.