MYH6 truncating variants in ExAC

MYH6 gene summary
MYH6 variants in DCM

The table below lists the MYH6 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. 23858217 c.4026C>A p.C1342X nonsense 0.00007474●●●●●●
2. 23874590 c.346-2A>G essential splice site 0.00003298●●●●●●
3. 0 c.-13-1G>A essential splice site 0.00002476●●●●●●
4. 23866272 c.2068delC p.Leu690TrpfsTer38 frameshift 0.00002472●●●●●●
5. 23857102 c.4390G>T p.E1464X nonsense 0.00001659●●●●●●
6. 23855254 c.5046dupG p.Leu1683AlafsTer4 frameshift 0.00001649●●●●●●
7. 23870070 c.1258C>T p.Q420X nonsense 0.00001647●●●●●●
8. 23855662 c.4821_4822delAC p.Arg1608GlnfsTer18 frameshift 0.00001647●●●●●●
9. 23867953 c.1875C>A p.Y625X nonsense 0.00001647●●●●●●
10. 23862562 c.3094C>T p.Q1032X nonsense 0.00001647●●●●●●
11. 23862218 c.3154C>T p.R1052X nonsense 0.00001647●●●●●●
12. 23851639 c.5794A>T p.K1932X nonsense 0.00001647●●●●●●
13. 23872591 c.864C>G p.Y288X nonsense 0.00001647●●●●●●
14. 23859467 c.3531delG p.Arg1178GlyfsTer38 frameshift 0.00001324●●●●●●
15. 23858266 c.3979-2A>C essential splice site 0.00001129●●●●●●
16. 23859430 c.3568_3572delACTGC p.Thr1190ArgfsTer41 frameshift 0.00001106●●●●●●
17. 23855833 c.4651-1G>A essential splice site 0.00000845●●●●●●
18. 23865632 c.2293-3_2293-2delCA essential splice site 0.00000842●●●●●●
19. 23871905 c.1002+1G>A essential splice site 0.00000826●●●●●●
20. 23858196 c.4047C>G p.Y1349X nonsense 0.00000826●●●●●●
21. 23853649 c.5565+2T>A essential splice site 0.00000826●●●●●●
22. 23853653 c.5563C>T p.Q1855X nonsense 0.00000826●●●●●●
23. 0 c.-13-1G>C essential splice site 0.00000825●●●●●●
24. 23866290 c.2051-1G>A essential splice site 0.00000824●●●●●●
25. 23856967 c.4525G>T p.E1509X nonsense 0.00000824●●●●●●
26. 23865902 c.2292+1G>A essential splice site 0.00000824●●●●●●
27. 23865901 c.2292+2T>C essential splice site 0.00000824●●●●●●
28. 23854154 c.5260G>T p.E1754X nonsense 0.00000824●●●●●●
29. 23862874 c.2928+1G>A essential splice site 0.00000824●●●●●●
30. 23876313 c.120delC p.Asp41MetfsTer29 frameshift 0.00000824●●●●●●
31. 23858722 c.3860-2A>C essential splice site 0.00000824●●●●●●
32. 23858654 c.3926_3927delCT p.Ser1309LeufsTer32 frameshift 0.00000824●●●●●●
33. 23858613 c.3967delG p.Glu1323ArgfsTer105 frameshift 0.00000824●●●●●●
34. 23858600 c.3978+2T>C essential splice site 0.00000824●●●●●●
35. 23858667 c.3913delC p.R1305Gfs*123 frameshift 0.00000824●●●●●●
36. 23851666 c.5767C>T p.R1923X nonsense 0.00000824●●●●●●
37. 23853725 c.5491G>T p.E1831X nonsense 0.00000824●●●●●●
38. 23857516 c.4207G>T p.E1403X nonsense 0.00000824●●●●●●
39. 23856833 c.4555G>T p.Gly1519Ter nonsense 0.00000824●●●●●●
40. 23866452 c.1977delG p.K659Nfs*2 frameshift 0.00000824●●●●●●
41. 23862956 c.2847C>A p.C949X nonsense 0.00000824●●●●●●
42. 23863093 c.2710G>T p.E904X nonsense 0.00000824●●●●●●
43. 23863342 c.2620G>T p.E874X nonsense 0.00000824●●●●●●
44. 23856995 c.4497dupC p.Phe1500LeufsTer17 frameshift 0.00000824●●●●●●
45. 23867997 c.1831C>T p.Q611X nonsense 0.00000824●●●●●●
46. 23868166 c.1662C>A p.Y554X nonsense 0.00000824●●●●●●
47. 23869464 c.1581+1G>A essential splice site 0.00000824●●●●●●
48. 23851266 c.5803dupA p.Met1935AsnfsTer4 frameshift 0.00000824●●●●●●
49. 23851274 c.5797-2A>G essential splice site 0.00000824●●●●●●
50. 23854123 c.5289+2T>C essential splice site 0.00000824●●●●●●
51. 23862143 c.3229C>T p.Q1077X nonsense 0.00000824●●●●●●
52. 23858800 c.3859+2T>G essential splice site 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.