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. 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. 23902379 c.259delA p.Ile87SerfsTer7 frameshift 0.00000824
11. 23893115 c.2922+1G>A essential splice site 0.00000824
12. 23893277 c.2761G>T p.E921X nonsense 0.00000824
13. 23902303 c.335G>A p.W112X nonsense 0.00000824
14. 23902888 c.54delG p.Lys18AsnfsTer7 frameshift 0.00000824
15. 23884589 c.5283+1G>A essential splice site 0.00000824
16. 23894187 c.2470delG p.Val824SerfsTer7 frameshift 0.00000824
17. 23894927 c.2263C>T p.Q755X nonsense 0.00000824
18. 23900691 c.733-1G>A essential splice site 0.00000824
19. 23888411 c.3947_3948insA p.Arg1317GlufsTer8 frameshift 0.00000824
20. 23895028 c.2163-1G>T essential splice site 0.00000824
21. 23901717 c.503-2A>T essential splice site 0.00000824
22. 23891536 c.3100-2A>C essential splice site 0.00000824
23. 23888427 c.3931C>T p.Q1311X nonsense 0.00000824
24. 23886133 c.4588C>T p.R1530X nonsense 0.00000824
25. 23895172 c.2162+1G>A 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.