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