SCN4B variants in ExAC

SCN4B gene summary
SCN4B variants in

The table below lists the SCN4B 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. 118014545 c.463+3A>T splice site 0.00005112●●●●●●
13. 118014783 c.235-7C>T splice site 0.00004943●●●●●●
14. 118007797 c.632C>T p.T211M missense 0.00004130●●●●●●
15. 118011923 c.592_593+1delAAG essential splice site 0.00004119●●●●●●
16. 118015807 c.199C>T p.R67W missense 0.00004118●●●●●●
17. 118007780 c.649G>T p.G217C missense 0.00003317●●●●●●
18. 118007816 c.613T>C p.S205P missense 0.00003313●●●●●●
19. 118012035 c.480C>G p.N160K missense 0.00003297●●●●●●
20. 118011995 c.520A>G p.I174V missense 0.00003296●●●●●●
21. 118015894 c.112G>A p.A38T missense 0.00003296●●●●●●
22. 118015804 c.202T>C p.W68R missense 0.00003295●●●●●●
23. 118014730 c.281C>T p.T94M missense 0.00003295●●●●●●
24. 118023355 c.34G>A p.A12T missense 0.00002704●●●●●●
25. 118014553 c.458A>G p.D153G missense 0.00002520●●●●●●
26. 118012046 c.469G>C p.E157Q missense 0.00002474●●●●●●
27. 118011982 c.533T>C p.I178T missense 0.00002472●●●●●●
28. 118015891 c.115A>G p.T39A missense 0.00002472●●●●●●
29. 118014752 c.259G>A p.E87K missense 0.00002471●●●●●●
30. 118023387 c.2T>C p.Met1? missense 0.00001889●●●●●●
31. 118023379 c.10G>A p.A4T missense 0.00001858●●●●●●
32. 118023327 c.61+1G>A essential splice site 0.00001798●●●●●●
33. 118007837 c.594-2A>G essential splice site 0.00001674●●●●●●
34. 118014557 c.454G>A p.V152I missense 0.00001672●●●●●●
35. 118015927 c.79G>C p.V27L missense 0.00001650●●●●●●
36. 118015910 c.96G>C p.E32D missense 0.00001649●●●●●●
37. 118012047 c.468A>C p.E156D missense 0.00001649●●●●●●
38. 118011953 c.562A>G p.I188V missense 0.00001648●●●●●●
39. 118014778 c.235-2A>T essential splice site 0.00001648●●●●●●
40. 118011998 c.517G>C p.V173L missense 0.00001648●●●●●●
41. 118012003 c.512delG p.Gly171AlafsTer12 frameshift 0.00001648●●●●●●
42. 118014716 c.295G>A p.D99N missense 0.00001647●●●●●●
43. 118014673 c.338_340delACA p.Asn113del inframe 0.00001647●●●●●●
44. 118014772 c.239T>C p.I80T missense 0.00001647●●●●●●
45. 118015854 c.152T>C p.L51P missense 0.00001647●●●●●●
46. 118015830 c.176T>C p.F59S missense 0.00001647●●●●●●
47. 118015808 c.198C>G p.F66L missense 0.00001647●●●●●●
48. 118015792 c.214A>G p.S72G missense 0.00001647●●●●●●
49. 118023361 c.28G>A p.A10T missense 0.00000907●●●●●●
50. 118023360 c.29C>G p.A10G missense 0.00000906●●●●●●
51. 118023342 c.47G>C p.G16A missense 0.00000894●●●●●●
52. 118014540 c.463+8G>A splice site 0.00000866●●●●●●
53. 118014547 c.463+1G>A essential splice site 0.00000849●●●●●●
54. 118007746 c.683T>C p.V228A missense 0.00000848●●●●●●
55. 118007747 c.682G>A p.V228M missense 0.00000846●●●●●●
56. 118007842 c.594-7T>A splice site 0.00000842●●●●●●
57. 118014553 c.458A>T p.D153V missense 0.00000840●●●●●●
58. 118014556 c.455T>C p.V152A missense 0.00000837●●●●●●
59. 118007833 c.596A>T p.K199M missense 0.00000834●●●●●●
60. 118007833 c.596A>G p.K199R missense 0.00000834●●●●●●
61. 118007830 c.599A>G p.E200G missense 0.00000832●●●●●●
62. 118007785 c.644_648delTGCCT p.Leu215TrpfsTer19 frameshift 0.00000829●●●●●●
63. 118007822 c.607G>T p.V203L missense 0.00000829●●●●●●
64. 118014578 c.433G>A p.A145T missense 0.00000828●●●●●●
65. 118007816 c.613T>A p.S205T missense 0.00000828●●●●●●
66. 118007815 c.614C>A p.S205Y missense 0.00000828●●●●●●
67. 118015942 c.64C>T p.L22F missense 0.00000827●●●●●●
68. 118014592 c.419A>C p.N140T missense 0.00000826●●●●●●
69. 118014599 c.412G>A p.E138K missense 0.00000825●●●●●●
70. 118014614 c.397G>A p.V133M missense 0.00000825●●●●●●
71. 118015775 c.231G>C p.K77N missense 0.00000824●●●●●●
72. 118014753 c.258_259delTG p.Asn86LysfsTer4 frameshift 0.00000824●●●●●●
73. 118012019 c.496_498delATC p.Ile166del inframe 0.00000824●●●●●●
74. 118011988 c.527T>C p.L176P missense 0.00000824●●●●●●
75. 118015840 c.166T>A p.S56T missense 0.00000824●●●●●●
76. 118014769 c.242A>T p.E81V missense 0.00000824●●●●●●
77. 118014665 c.346A>G p.I116V missense 0.00000824●●●●●●
78. 118011931 c.584G>C p.R195P missense 0.00000824●●●●●●
79. 118015815 c.191T>G p.L64R missense 0.00000824●●●●●●
80. 118014719 c.292G>A p.D98N missense 0.00000824●●●●●●
81. 118014760 c.251T>G p.V84G missense 0.00000824●●●●●●
82. 118014628 c.383A>G p.K128R missense 0.00000824●●●●●●
83. 118015851 c.155C>G p.P52R missense 0.00000824●●●●●●
84. 118015870 c.136G>A p.G46S missense 0.00000824●●●●●●
85. 118014770 c.241G>T p.E81X nonsense 0.00000824●●●●●●
86. 118014671 c.340A>G p.I114V missense 0.00000824●●●●●●
87. 118011947 c.568A>C p.I190L missense 0.00000824●●●●●●
88. 118015909 c.97G>A p.V33M missense 0.00000824●●●●●●
89. 118011971 c.544C>G p.L182V missense 0.00000824●●●●●●
90. 118015823 c.183C>G p.F61L missense 0.00000824●●●●●●
91. 118014764 c.247A>G p.T83A missense 0.00000824●●●●●●
92. 118014634 c.377C>T p.T126M missense 0.00000824●●●●●●
93. 118012007 c.508G>A p.V170M missense 0.00000824●●●●●●
94. 118015888 c.118G>A p.D40N missense 0.00000824●●●●●●
95. 118015772 c.234T>G p.I78M missense 0.00000824●●●●●●
96. 118014712 c.299G>A p.R100H missense 0.00000824●●●●●●
97. 118014686 c.325_327delGAG p.Glu109del inframe 0.00000824●●●●●●
98. 118014768 c.243G>C p.E81D missense 0.00000824●●●●●●
99. 118014734 c.277G>T p.V93L missense 0.00000824●●●●●●
100. 118014658 c.353T>C p.L118P missense 0.00000824●●●●●●
101. 118015806 c.200G>A p.R67Q missense 0.00000824●●●●●●
102. 118012013 c.502G>A p.A168T missense 0.00000824●●●●●●
103. 118011948 c.567C>A p.F189L missense 0.00000824●●●●●●
104. 118015866 c.140C>T p.T47M missense 0.00000824●●●●●●
105. 118011931 c.584G>A p.R195Q 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.