SCN4B missense variants in ExAC

SCN4B gene summary
SCN4B variants in

The table below lists the SCN4B 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. 118023367 c.22G>A p.G8S missense 0.00047417●●●●●●
2. 118015894 c.112G>C p.A38P missense 0.00041200●●●●●●
3. 118015812 c.194A>T p.H65L missense 0.00023886●●●●●●
4. 118007822 c.607G>A p.V203M missense 0.00018245●●●●●●
5. 118023371 c.18C>A p.D6E missense 0.00014660●●●●●●
6. 118011973 c.542T>C p.L181P missense 0.00014005●●●●●●
7. 118007797 c.632C>G p.T211R missense 0.00012389●●●●●●
8. 118007812 c.617C>T p.S206L missense 0.00006619●●●●●●
9. 118007789 c.640G>A p.G214S missense 0.00005783●●●●●●
10. 118012010 c.505G>A p.V169I missense 0.00005768●●●●●●
11. 118014713 c.298C>T p.R100C missense 0.00005765●●●●●●
12. 118007797 c.632C>T p.T211M missense 0.00004130●●●●●●
13. 118015807 c.199C>T p.R67W missense 0.00004118●●●●●●
14. 118007780 c.649G>T p.G217C missense 0.00003317●●●●●●
15. 118007816 c.613T>C p.S205P missense 0.00003313●●●●●●
16. 118012035 c.480C>G p.N160K missense 0.00003297●●●●●●
17. 118011995 c.520A>G p.I174V missense 0.00003296●●●●●●
18. 118015894 c.112G>A p.A38T missense 0.00003296●●●●●●
19. 118015804 c.202T>C p.W68R missense 0.00003295●●●●●●
20. 118014730 c.281C>T p.T94M missense 0.00003295●●●●●●
21. 118023355 c.34G>A p.A12T missense 0.00002704●●●●●●
22. 118014553 c.458A>G p.D153G missense 0.00002520●●●●●●
23. 118012046 c.469G>C p.E157Q missense 0.00002474●●●●●●
24. 118015891 c.115A>G p.T39A missense 0.00002472●●●●●●
25. 118011982 c.533T>C p.I178T missense 0.00002472●●●●●●
26. 118014752 c.259G>A p.E87K missense 0.00002471●●●●●●
27. 118023387 c.2T>C p.Met1? missense 0.00001889●●●●●●
28. 118023379 c.10G>A p.A4T missense 0.00001858●●●●●●
29. 118014557 c.454G>A p.V152I missense 0.00001672●●●●●●
30. 118015927 c.79G>C p.V27L missense 0.00001650●●●●●●
31. 118015910 c.96G>C p.E32D missense 0.00001649●●●●●●
32. 118012047 c.468A>C p.E156D missense 0.00001649●●●●●●
33. 118011953 c.562A>G p.I188V missense 0.00001648●●●●●●
34. 118011998 c.517G>C p.V173L missense 0.00001648●●●●●●
35. 118015830 c.176T>C p.F59S missense 0.00001647●●●●●●
36. 118015854 c.152T>C p.L51P missense 0.00001647●●●●●●
37. 118014716 c.295G>A p.D99N missense 0.00001647●●●●●●
38. 118015808 c.198C>G p.F66L missense 0.00001647●●●●●●
39. 118015792 c.214A>G p.S72G missense 0.00001647●●●●●●
40. 118014772 c.239T>C p.I80T missense 0.00001647●●●●●●
41. 118023361 c.28G>A p.A10T missense 0.00000907●●●●●●
42. 118023360 c.29C>G p.A10G missense 0.00000906●●●●●●
43. 118023342 c.47G>C p.G16A missense 0.00000894●●●●●●
44. 118007746 c.683T>C p.V228A missense 0.00000848●●●●●●
45. 118007747 c.682G>A p.V228M missense 0.00000846●●●●●●
46. 118014553 c.458A>T p.D153V missense 0.00000840●●●●●●
47. 118014556 c.455T>C p.V152A missense 0.00000837●●●●●●
48. 118007833 c.596A>T p.K199M missense 0.00000834●●●●●●
49. 118007833 c.596A>G p.K199R missense 0.00000834●●●●●●
50. 118007830 c.599A>G p.E200G missense 0.00000832●●●●●●
51. 118007822 c.607G>T p.V203L missense 0.00000829●●●●●●
52. 118007815 c.614C>A p.S205Y missense 0.00000828●●●●●●
53. 118014578 c.433G>A p.A145T missense 0.00000828●●●●●●
54. 118007816 c.613T>A p.S205T missense 0.00000828●●●●●●
55. 118015942 c.64C>T p.L22F missense 0.00000827●●●●●●
56. 118014592 c.419A>C p.N140T missense 0.00000826●●●●●●
57. 118014614 c.397G>A p.V133M missense 0.00000825●●●●●●
58. 118014599 c.412G>A p.E138K missense 0.00000825●●●●●●
59. 118012013 c.502G>A p.A168T missense 0.00000824●●●●●●
60. 118015772 c.234T>G p.I78M missense 0.00000824●●●●●●
61. 118011931 c.584G>A p.R195Q missense 0.00000824●●●●●●
62. 118014665 c.346A>G p.I116V missense 0.00000824●●●●●●
63. 118011988 c.527T>C p.L176P missense 0.00000824●●●●●●
64. 118014760 c.251T>G p.V84G missense 0.00000824●●●●●●
65. 118015866 c.140C>T p.T47M missense 0.00000824●●●●●●
66. 118014628 c.383A>G p.K128R missense 0.00000824●●●●●●
67. 118015806 c.200G>A p.R67Q missense 0.00000824●●●●●●
68. 118011931 c.584G>C p.R195P missense 0.00000824●●●●●●
69. 118014719 c.292G>A p.D98N missense 0.00000824●●●●●●
70. 118015840 c.166T>A p.S56T missense 0.00000824●●●●●●
71. 118015815 c.191T>G p.L64R missense 0.00000824●●●●●●
72. 118015775 c.231G>C p.K77N missense 0.00000824●●●●●●
73. 118011971 c.544C>G p.L182V missense 0.00000824●●●●●●
74. 118014764 c.247A>G p.T83A missense 0.00000824●●●●●●
75. 118015870 c.136G>A p.G46S missense 0.00000824●●●●●●
76. 118014671 c.340A>G p.I114V missense 0.00000824●●●●●●
77. 118014734 c.277G>T p.V93L missense 0.00000824●●●●●●
78. 118014634 c.377C>T p.T126M missense 0.00000824●●●●●●
79. 118011947 c.568A>C p.I190L missense 0.00000824●●●●●●
80. 118015909 c.97G>A p.V33M missense 0.00000824●●●●●●
81. 118015851 c.155C>G p.P52R missense 0.00000824●●●●●●
82. 118015823 c.183C>G p.F61L missense 0.00000824●●●●●●
83. 118014769 c.242A>T p.E81V missense 0.00000824●●●●●●
84. 118012007 c.508G>A p.V170M missense 0.00000824●●●●●●
85. 118014768 c.243G>C p.E81D missense 0.00000824●●●●●●
86. 118014658 c.353T>C p.L118P missense 0.00000824●●●●●●
87. 118015888 c.118G>A p.D40N missense 0.00000824●●●●●●
88. 118014712 c.299G>A p.R100H missense 0.00000824●●●●●●
89. 118011948 c.567C>A p.F189L 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.