MYH7 truncating variants in ExAC


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