MYH7 truncating variants in ExAC

MYH7 gene summary
MYH7 variants in HCM, DCM

The table below lists the MYH7 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. 23902888 c.54delG p.Lys18AsnfsTer7 frameshift 0.00000824●●●●●●
2. 23902379 c.259delA p.Ile87SerfsTer7 frameshift 0.00000824●●●●●●
3. 23902303 c.335G>A p.W112X nonsense 0.00000824●●●●●●
4. 23902292 c.345+1G>A essential splice site 0.00002473●●●●●●
5. 23901717 c.503-2A>T essential splice site 0.00000824●●●●●●
6. 23900691 c.733-1G>A essential splice site 0.00000824●●●●●●
7. 23898465 c.1230C>A p.Y410X nonsense 0.00000824●●●●●●
8. 23896793 c.1888+1G>A essential splice site 0.00000848●●●●●●
9. 23896511 c.1894G>T p.E632X nonsense 0.00000827●●●●●●
10. 23895172 c.2162+1G>A essential splice site 0.00000824●●●●●●
11. 23895028 c.2163-1G>T essential splice site 0.00000824●●●●●●
12. 23894927 c.2263C>T p.Q755X nonsense 0.00000824●●●●●●
13. 23894187 c.2470delG p.Val824SerfsTer7 frameshift 0.00000824●●●●●●
14. 23893360 c.2680-2A>G essential splice site 0.00000825●●●●●●
15. 23893277 c.2761G>T p.E921X nonsense 0.00000824●●●●●●
16. 23893115 c.2922+1G>A essential splice site 0.00000824●●●●●●
17. 23891536 c.3100-2A>C essential splice site 0.00000824●●●●●●
18. 23889431 c.3349G>T p.E1117X nonsense 0.00000974●●●●●●
19. 23888691 c.3853+1G>A essential splice site 0.00001647●●●●●●
20. 23888427 c.3931C>T p.Q1311X nonsense 0.00000824●●●●●●
21. 23888411 c.3947_3948insA p.Arg1317GlufsTer8 frameshift 0.00000824●●●●●●
22. 23886491 c.4390C>T p.Q1464X nonsense 0.00000825●●●●●●
23. 23886133 c.4588C>T p.R1530X nonsense 0.00000824●●●●●●
24. 23884589 c.5283+1G>A essential splice site 0.00000824●●●●●●
25. 23884259 c.5504_5505delAG p.E1835Vfs*70 frameshift 0.00000825●●●●●●
26. 23882967 c.5790+1G>A 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.