ACTA2 missense variants in ExAC

ACTA2 gene summary
ACTA2 variants in

The table below lists the ACTA2 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. 90697831 c.977C>A p.T326N missense 0.00013192●●●●●●
2. 90708610 c.78C>A p.D26E missense 0.00007417●●●●●●
3. 90697849 c.959C>T p.T320M missense 0.00005769●●●●●●
4. 90701595 c.401T>C p.M134T missense 0.00004877●●●●●●
5. 90703643 c.280A>G p.N94D missense 0.00003298●●●●●●
6. 90697883 c.925C>G p.P309A missense 0.00003296●●●●●●
7. 90700995 c.607G>A p.V203I missense 0.00002476●●●●●●
8. 90699375 c.697G>A p.A233T missense 0.00002475●●●●●●
9. 90701593 c.403T>C p.Y135H missense 0.00001940●●●●●●
10. 90697835 c.973A>G p.S325G missense 0.00001649●●●●●●
11. 90695002 c.1112T>C p.I371T missense 0.00001648●●●●●●
12. 90695027 c.1087G>C p.E363Q missense 0.00001648●●●●●●
13. 90699424 c.648G>C p.E216D missense 0.00000827●●●●●●
14. 90699400 c.672C>G p.D224E missense 0.00000826●●●●●●
15. 90708683 c.5G>A p.C2Y missense 0.00000826●●●●●●
16. 90701028 c.574A>G p.M192V missense 0.00000825●●●●●●
17. 90697827 c.981G>A p.M327I missense 0.00000825●●●●●●
18. 90708669 c.19A>G p.S7G missense 0.00000825●●●●●●
19. 90703642 c.281A>G p.N94S missense 0.00000825●●●●●●
20. 90695122 c.992T>G p.I331S missense 0.00000825●●●●●●
21. 90703570 c.353G>A p.R118Q missense 0.00000825●●●●●●
22. 90695116 c.998C>T p.A333V missense 0.00000825●●●●●●
23. 90703563 c.360A>T p.K120N missense 0.00000825●●●●●●
24. 90701027 c.575T>C p.M192T missense 0.00000825●●●●●●
25. 90703646 c.277T>A p.Y93N missense 0.00000825●●●●●●
26. 90699394 c.678A>C p.E226D missense 0.00000825●●●●●●
27. 90703627 c.296C>G p.A99G missense 0.00000824●●●●●●
28. 90699323 c.749T>A p.I250N missense 0.00000824●●●●●●
29. 90697981 c.827T>C p.I276T missense 0.00000824●●●●●●
30. 90695107 c.1007A>G p.E336G missense 0.00000824●●●●●●
31. 90707099 c.174C>G p.D58E missense 0.00000824●●●●●●
32. 90707044 c.229A>G p.I77V missense 0.00000824●●●●●●
33. 90697863 c.945G>A p.M315I missense 0.00000824●●●●●●
34. 90695021 c.1093G>A p.D365N missense 0.00000824●●●●●●
35. 90699350 c.722G>T p.S241I missense 0.00000824●●●●●●
36. 90699265 c.807C>G p.I269M missense 0.00000824●●●●●●
37. 90695114 c.1000C>T p.P334S missense 0.00000824●●●●●●
38. 90708581 c.107T>C p.I36T missense 0.00000824●●●●●●
39. 90707062 c.211T>C p.Y71H missense 0.00000824●●●●●●
40. 90701117 c.485C>T p.T162I missense 0.00000824●●●●●●
41. 90697846 c.962C>G p.A321G missense 0.00000824●●●●●●
42. 90695005 c.1109C>G p.S370C missense 0.00000824●●●●●●
43. 90697887 c.921G>C p.M307I missense 0.00000824●●●●●●
44. 90707099 c.174C>A p.D58E missense 0.00000824●●●●●●
45. 90697916 c.892A>G p.N298D missense 0.00000824●●●●●●
46. 90699305 c.767G>T p.R256L missense 0.00000824●●●●●●
47. 90695084 c.1030G>A p.G344S missense 0.00000824●●●●●●
48. 90697871 c.937G>A p.D313N missense 0.00000824●●●●●●
49. 90695017 c.1097A>G p.E366G missense 0.00000824●●●●●●
50. 90708619 c.69T>G p.F23L missense 0.00000824●●●●●●
51. 90699324 c.748A>C p.I250L 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.