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 with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. 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. 23876313 c.120delC p.Asp41MetfsTer29 frameshift 0.00000824●●●●●●
2. 23874590 c.346-2A>G essential splice site 0.00003298●●●●●●
3. 23872591 c.864C>G p.Y288X nonsense 0.00001647●●●●●●
4. 23871905 c.1002+1G>A essential splice site 0.00000826●●●●●●
5. 23870070 c.1258C>T p.Q420X nonsense 0.00001647●●●●●●
6. 23869464 c.1581+1G>A essential splice site 0.00000824●●●●●●
7. 23868166 c.1662C>A p.Y554X nonsense 0.00000824●●●●●●
8. 23867997 c.1831C>T p.Q611X nonsense 0.00000824●●●●●●
9. 23867953 c.1875C>A p.Y625X nonsense 0.00001647●●●●●●
10. 23866452 c.1977delG p.K659Nfs*2 frameshift 0.00000824●●●●●●
11. 23866290 c.2051-1G>A essential splice site 0.00000824●●●●●●
12. 23866272 c.2068delC p.Leu690TrpfsTer38 frameshift 0.00002472●●●●●●
13. 23865902 c.2292+1G>A essential splice site 0.00000824●●●●●●
14. 23865901 c.2292+2T>C essential splice site 0.00000824●●●●●●
15. 23865632 c.2293-3_2293-2delCA essential splice site 0.00000842●●●●●●
16. 23863342 c.2620G>T p.E874X nonsense 0.00000824●●●●●●
17. 23863093 c.2710G>T p.E904X nonsense 0.00000824●●●●●●
18. 23862956 c.2847C>A p.C949X nonsense 0.00000824●●●●●●
19. 23862874 c.2928+1G>A essential splice site 0.00000824●●●●●●
20. 23862562 c.3094C>T p.Q1032X nonsense 0.00001647●●●●●●
21. 23862218 c.3154C>T p.R1052X nonsense 0.00001647●●●●●●
22. 23862143 c.3229C>T p.Q1077X nonsense 0.00000824●●●●●●
23. 23859467 c.3531delG p.Arg1178GlyfsTer38 frameshift 0.00001324●●●●●●
24. 23859430 c.3568_3572delACTGC p.Thr1190ArgfsTer41 frameshift 0.00001106●●●●●●
25. 23858800 c.3859+2T>G essential splice site 0.00000824●●●●●●
26. 23858722 c.3860-2A>C essential splice site 0.00000824●●●●●●
27. 23858667 c.3913delC p.R1305Gfs*123 frameshift 0.00000824●●●●●●
28. 23858654 c.3926_3927delCT p.Ser1309LeufsTer32 frameshift 0.00000824●●●●●●
29. 23858613 c.3967delG p.Glu1323ArgfsTer105 frameshift 0.00000824●●●●●●
30. 23858600 c.3978+2T>C essential splice site 0.00000824●●●●●●
31. 23858266 c.3979-2A>C essential splice site 0.00001129●●●●●●
32. 23858217 c.4026C>A p.C1342X nonsense 0.00007474●●●●●●
33. 23858196 c.4047C>G p.Y1349X nonsense 0.00000826●●●●●●
34. 23857516 c.4207G>T p.E1403X nonsense 0.00000824●●●●●●
35. 23857102 c.4390G>T p.E1464X nonsense 0.00001659●●●●●●
36. 23856995 c.4497dupC p.Phe1500LeufsTer17 frameshift 0.00000824●●●●●●
37. 23856967 c.4525G>T p.E1509X nonsense 0.00000824●●●●●●
38. 23856833 c.4555G>T p.Gly1519Ter nonsense 0.00000824●●●●●●
39. 23855833 c.4651-1G>A essential splice site 0.00000845●●●●●●
40. 23855662 c.4821_4822delAC p.Arg1608GlnfsTer18 frameshift 0.00001647●●●●●●
41. 23855254 c.5046dupG p.Leu1683AlafsTer4 frameshift 0.00001649●●●●●●
42. 23854154 c.5260G>T p.E1754X nonsense 0.00000824●●●●●●
43. 23854123 c.5289+2T>C essential splice site 0.00000824●●●●●●
44. 23853725 c.5491G>T p.E1831X nonsense 0.00000824●●●●●●
45. 23853653 c.5563C>T p.Q1855X nonsense 0.00000826●●●●●●
46. 23853649 c.5565+2T>A essential splice site 0.00000826●●●●●●
47. 23851666 c.5767C>T p.R1923X nonsense 0.00000824●●●●●●
48. 23851639 c.5794A>T p.K1932X nonsense 0.00001647●●●●●●
49. 23851274 c.5797-2A>G essential splice site 0.00000824●●●●●●
50. 23851266 c.5803dupA p.Met1935AsnfsTer4 frameshift 0.00000824●●●●●●
51. 0 c.-13-1G>A essential splice site 0.00002476●●●●●●
52. 0 c.-13-1G>C essential splice site 0.00000825●●●●●●

* 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.