SCN1B missense variants in ExAC

SCN1B gene summary
SCN1B variants in

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