SCN2B variants in ExAC

SCN2B gene summary
SCN2B variants in

The table below lists the SCN2B 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. 118038892 c.356C>T p.P119L missense 0.00018978●●●●●●
2. 118037780 c.470C>T p.T157M missense 0.00018185●●●●●●
3. 118037624 c.626A>C p.N209T missense 0.00016474●●●●●●
4. 118037625 c.625A>C p.N209H missense 0.00016474●●●●●●
5. 118037639 c.611C>T p.T204M missense 0.00012355●●●●●●
6. 118037754 c.496G>A p.V166I missense 0.00009894●●●●●●
7. 118039397 c.140G>A p.R47H missense 0.00008236●●●●●●
8. 118037610 c.640G>A p.A214T missense 0.00007414●●●●●●
9. 118037789 c.461G>A p.R154Q missense 0.00006623●●●●●●
10. 118039455 c.82C>T p.R28W missense 0.00006590●●●●●●
11. 118039346 c.191C>T p.S64F missense 0.00006589●●●●●●
12. 118039419 c.118G>A p.V40I missense 0.00005765●●●●●●
13. 118038998 c.250C>T p.R84C missense 0.00004961●●●●●●
14. 118038905 c.343A>G p.R115G missense 0.00004946●●●●●●
15. 118047142 c.5A>G p.H2R missense 0.00004942●●●●●●
16. 118038997 c.251G>A p.R84H missense 0.00004131●●●●●●
17. 118047101 c.46G>A p.G16R missense 0.00004118●●●●●●
18. 118039457 c.80G>A p.G27E missense 0.00004118●●●●●●
19. 118037672 c.578C>G p.T193R missense 0.00004118●●●●●●
20. 118038870 c.378C>G p.N126K missense 0.00003312●●●●●●
21. 118037739 c.511G>C p.A171P missense 0.00003297●●●●●●
22. 118037621 c.629C>T p.P210L missense 0.00003295●●●●●●
23. 118037672 c.578C>T p.T193I missense 0.00003295●●●●●●
24. 118047103 c.44C>T p.T15M missense 0.00003295●●●●●●
25. 118039332 c.205T>C p.Y69H missense 0.00003295●●●●●●
26. 118037772 c.478G>A p.V160M missense 0.00002476●●●●●●
27. 118037748 c.502G>T p.G168C missense 0.00002473●●●●●●
28. 118039467 c.71-1G>A essential splice site 0.00002471●●●●●●
29. 118039454 c.83G>A p.R28Q missense 0.00002471●●●●●●
30. 118039444 c.93G>T p.E31D missense 0.00002471●●●●●●
31. 118038793 c.448+7G>A splice site 0.00002055●●●●●●
32. 118038821 c.427C>T p.H143Y missense 0.00001737●●●●●●
33. 118038844 c.404G>A p.R135H missense 0.00001677●●●●●●
34. 118037799 c.451C>T p.P151S missense 0.00001659●●●●●●
35. 118037793 c.457G>A p.E153K missense 0.00001657●●●●●●
36. 118038967 c.281G>A p.R94Q missense 0.00001649●●●●●●
37. 118038899 c.349G>A p.V117M missense 0.00001649●●●●●●
38. 118038968 c.280C>T p.R94W missense 0.00001649●●●●●●
39. 118038953 c.295G>A p.V99M missense 0.00001649●●●●●●
40. 118047100 c.47G>A p.G16E missense 0.00001647●●●●●●
41. 118037658 c.592A>G p.T198A missense 0.00001647●●●●●●
42. 118039434 c.103C>T p.P35S missense 0.00001647●●●●●●
43. 118037618 c.632A>G p.D211G missense 0.00001647●●●●●●
44. 118039401 c.136G>A p.A46T missense 0.00001647●●●●●●
45. 118039385 c.152C>T p.T51I missense 0.00001647●●●●●●
46. 118039428 c.109A>G p.T37A missense 0.00001647●●●●●●
47. 118038814 c.434A>G p.Q145R missense 0.00000890●●●●●●
48. 118038820 c.428A>G p.H143R missense 0.00000871●●●●●●
49. 118038845 c.403C>T p.R135C missense 0.00000838●●●●●●
50. 118038850 c.398dupC p.Asp134Ter frameshift 0.00000835●●●●●●
51. 118037811 c.449-10T>C splice site 0.00000833●●●●●●
52. 118037809 c.449-8C>T splice site 0.00000832●●●●●●
53. 118037798 c.452C>T p.P151L missense 0.00000829●●●●●●
54. 118038869 c.379T>C p.C127R missense 0.00000828●●●●●●
55. 118037793 c.457G>C p.E153Q missense 0.00000828●●●●●●
56. 118038887 c.361delG p.Asp121MetfsTer10 frameshift 0.00000826●●●●●●
57. 118037778 c.472G>T p.V158L missense 0.00000826●●●●●●
58. 118038993 c.255G>T p.M85I missense 0.00000826●●●●●●
59. 118037705 c.545G>A p.C182Y missense 0.00000824●●●●●●
60. 118039451 c.86G>A p.S29N missense 0.00000824●●●●●●
61. 118039431 c.106G>A p.A36T missense 0.00000824●●●●●●
62. 118037633 c.617G>A p.G206D missense 0.00000824●●●●●●
63. 118039473 c.71-7T>G splice site 0.00000824●●●●●●
64. 118037696 c.554G>C p.R185T missense 0.00000824●●●●●●
65. 118047094 c.53G>A p.S18N missense 0.00000824●●●●●●
66. 118039415 c.122T>C p.L41P missense 0.00000824●●●●●●
67. 118037715 c.535G>T p.V179L missense 0.00000824●●●●●●
68. 118039467 c.71-1G>T essential splice site 0.00000824●●●●●●
69. 118037748 c.502G>A p.G168S missense 0.00000824●●●●●●
70. 118039451 c.86G>T p.S29I missense 0.00000824●●●●●●
71. 118037643 c.607A>G p.K203E missense 0.00000824●●●●●●
72. 118039400 c.137C>T p.A46V missense 0.00000824●●●●●●
73. 118039376 c.161C>T p.S54F missense 0.00000824●●●●●●
74. 118038923 c.325G>A p.D109N missense 0.00000824●●●●●●
75. 118037696 c.554G>A p.R185K missense 0.00000824●●●●●●
76. 118039421 c.116A>G p.N39S missense 0.00000824●●●●●●
77. 118039302 c.235A>T p.M79L missense 0.00000824●●●●●●
78. 118039300 c.237G>C p.M79I missense 0.00000824●●●●●●
79. 118047096 c.51delC p.Ser18ValfsTer41 frameshift 0.00000824●●●●●●
80. 118039444 c.93G>C p.E31D missense 0.00000824●●●●●●
81. 118037645 c.605G>A p.G202D missense 0.00000824●●●●●●
82. 118037668 c.582T>G p.D194E missense 0.00000824●●●●●●
83. 118047073 c.70+4A>G splice site 0.00000824●●●●●●
84. 118047107 c.40C>T p.L14F missense 0.00000824●●●●●●
85. 118037699 c.551G>A p.R184K missense 0.00000824●●●●●●
86. 118037616 c.634G>C p.D212H missense 0.00000824●●●●●●
87. 118039306 c.231G>C p.E77D missense 0.00000824●●●●●●
88. 118038910 c.338T>C p.M113T missense 0.00000824●●●●●●
89. 118038904 c.344G>A p.R115K missense 0.00000824●●●●●●
90. 118037739 c.511G>T p.A171S missense 0.00000824●●●●●●
91. 118047095 c.52A>C p.S18R missense 0.00000824●●●●●●
92. 118037694 c.556A>G p.K186E missense 0.00000824●●●●●●
93. 118037655 c.595G>A p.E199K missense 0.00000824●●●●●●
94. 118039398 c.139C>T p.R47C missense 0.00000824●●●●●●
95. 118039401 c.136G>T p.A46S missense 0.00000824●●●●●●
96. 118038956 c.292C>T p.R98C 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.