SCN10A truncating variants in ExAC

SCN10A gene summary
SCN10A variants in

The table below lists the SCN10A truncating 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. 38739017 c.5694delA p.A1899Qfs*36 frameshift 0.00009884●●●●●●
2. 38743591 c.4396C>T p.Q1466X nonsense 0.00007189●●●●●●
3. 38739163 c.5548C>T p.Q1850X nonsense 0.00006590●●●●●●
4. 38739949 c.4762C>T p.R1588X nonsense 0.00004944●●●●●●
5. 38797308 c.1432delC p.Arg478AlafsTer13 frameshift 0.00004118●●●●●●
6. 38830472 c.445C>T p.R149X nonsense 0.00003320●●●●●●
7. 38753651 c.4089+1G>C essential splice site 0.00003318●●●●●●
8. 38739788 c.4923_4924delGT p.Met1641IlefsTer38 frameshift 0.00003295●●●●●●
9. 38812769 c.599+1G>A essential splice site 0.00002489●●●●●●
10. 38755505 c.3748C>T p.R1250X nonsense 0.00002474●●●●●●
11. 38739172 c.5539C>T p.R1847X nonsense 0.00002471●●●●●●
12. 38770246 c.2427delA p.E811Kfs*61 frameshift 0.00002471●●●●●●
13. 38752333 c.4143+2T>A essential splice site 0.00001841●●●●●●
14. 38802682 c.883+1G>A essential splice site 0.00001749●●●●●●
15. 38766799 c.3094C>T p.Q1032X nonsense 0.00001743●●●●●●
16. 38812833 c.536delT p.Leu179GlnfsTer7 frameshift 0.00001648●●●●●●
17. 38763851 c.3405G>A p.W1135X nonsense 0.00001648●●●●●●
18. 38739382 c.5329delA p.Ile1777SerfsTer9 frameshift 0.00001648●●●●●●
19. 38791676 c.1756-1G>A essential splice site 0.00000911●●●●●●
20. 38768095 c.3087+2T>C essential splice site 0.00000901●●●●●●
21. 38766805 c.3088C>T p.Q1030X nonsense 0.00000880●●●●●●
22. 38768123 c.3061C>T p.Q1021X nonsense 0.00000876●●●●●●
23. 38766798 c.3095delA p.Gln1032ArgfsTer12 frameshift 0.00000869●●●●●●
24. 38764981 c.3292delC p.Leu1098Ter frameshift 0.00000868●●●●●●
25. 38768132 c.3052C>T p.Q1018X nonsense 0.00000865●●●●●●
26. 38802697 c.869C>A p.S290X nonsense 0.00000858●●●●●●
27. 38770394 c.2281-2A>G essential splice site 0.00000855●●●●●●
28. 38751086 c.4164G>A p.W1388X nonsense 0.00000843●●●●●●
29. 38740054 c.4658-1G>T essential splice site 0.00000840●●●●●●
30. 38781017 c.2269delA p.Ser757AlafsTer17 frameshift 0.00000836●●●●●●
31. 38781180 c.2107-1G>A essential splice site 0.00000836●●●●●●
32. 38830445 c.470+2T>C essential splice site 0.00000833●●●●●●
33. 38798569 c.1032G>A p.W344X nonsense 0.00000833●●●●●●
34. 38768168 c.3016delC p.Asp1007MetfsTer18 frameshift 0.00000831●●●●●●
35. 38812768 c.599+2T>C essential splice site 0.00000830●●●●●●
36. 38793931 c.1534C>T p.R512X nonsense 0.00000830●●●●●●
37. 38802833 c.733A>T p.K245X nonsense 0.00000828●●●●●●
38. 38802240 c.884-2A>T essential splice site 0.00000826●●●●●●
39. 38768515 c.2669T>A p.L890X nonsense 0.00000826●●●●●●
40. 38743385 c.4602C>A p.Y1534X nonsense 0.00000826●●●●●●
41. 38798170 c.1285C>T p.Q429X nonsense 0.00000826●●●●●●
42. 38768261 c.2923C>T p.Q975X nonsense 0.00000825●●●●●●
43. 38763877 c.3379A>T p.K1127X nonsense 0.00000825●●●●●●
44. 38748769 c.4386+1G>C essential splice site 0.00000825●●●●●●
45. 38763786 c.3470delT p.F1157Sfs*5 frameshift 0.00000825●●●●●●
46. 38768507 c.2677_2678delTT p.Phe893GlnfsTer3 frameshift 0.00000825●●●●●●
47. 38738989 c.5722A>T p.K1908X nonsense 0.00000824●●●●●●
48. 38770188 c.2485_2486insCC p.Arg829ProfsTer44 frameshift 0.00000824●●●●●●
49. 38798227 c.1228G>T p.E410X nonsense 0.00000824●●●●●●
50. 38739374 c.5337delA p.K1779Nfs*7 frameshift 0.00000824●●●●●●
51. 38755573 c.3682-2A>T essential splice site 0.00000824●●●●●●
52. 38812797 c.572G>A p.W191X nonsense 0.00000824●●●●●●
53. 38770234 c.2439C>A p.Y813X nonsense 0.00000824●●●●●●
54. 38739704 c.5007delC p.Ile1670SerfsTer28 frameshift 0.00000824●●●●●●
55. 38797397 c.1343C>A p.S448X nonsense 0.00000824●●●●●●
56. 38753713 c.4028G>A p.W1343X nonsense 0.00000824●●●●●●
57. 38764919 c.3352+2T>G essential splice site 0.00000824●●●●●●
58. 38770224 c.2449C>T p.R817X nonsense 0.00000824●●●●●●
59. 38763839 c.3417G>A p.W1139X nonsense 0.00000824●●●●●●
60. 38748802 c.4354A>T p.K1452X nonsense 0.00000824●●●●●●
61. 38798238 c.1217dupC p.Thr407AsnfsTer3 frameshift 0.00000824●●●●●●
62. 38835322 c.180C>A p.C60X nonsense 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.