MYO6 truncating variants in ExAC

MYO6 gene summary
MYO6 variants in

The table below lists the MYO6 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. 76624720 c.3849_3850insT p.Leu1284PhefsTer39 frameshift 0.00010169●●●●●●
2. 76604978 c.3137+1G>A essential splice site 0.00007482●●●●●●
3. 76621416 c.3439+1G>A essential splice site 0.00003315●●●●●●
4. 76554623 c.826C>T p.R276X nonsense 0.00003307●●●●●●
5. 76624713 c.3842_3843delAG p.Leu1283ValfsTer39 frameshift 0.00002703●●●●●●
6. 76604978 c.3137+1G>T essential splice site 0.00001663●●●●●●
7. 76601024 c.2946+1G>A essential splice site 0.00001142●●●●●●
8. 76624693 c.3822_3823insT p.Tyr1275LeufsTer48 frameshift 0.00000858●●●●●●
9. 76595765 c.2461_2462insA p.Thr823AsnfsTer16 frameshift 0.00000849●●●●●●
10. 76564936 c.1159C>T p.R387X nonsense 0.00000849●●●●●●
11. 76550361 c.613C>T p.R205X nonsense 0.00000832●●●●●●
12. 76599926 c.2811_2812delAA p.Arg939ThrfsTer2 frameshift 0.00000831●●●●●●
13. 76599876 c.2761G>T p.E921X nonsense 0.00000830●●●●●●
14. 76617426 c.3280+1G>A essential splice site 0.00000830●●●●●●
15. 76542569 c.402delT p.Arg136GlufsTer3 frameshift 0.00000829●●●●●●
16. 76538307 c.238C>T p.R80X nonsense 0.00000827●●●●●●
17. 76540263 c.391+1G>A essential splice site 0.00000827●●●●●●
18. 76617402 c.3257_3258insT p.Asp1087Ter frameshift 0.00000826●●●●●●
19. 76623800 c.3460C>T p.Q1154X nonsense 0.00000826●●●●●●
20. 76540197 c.326delC p.Ser109Ter frameshift 0.00000825●●●●●●
21. 76596618 c.2565_2566insGT p.Val857Ter frameshift 0.00000825●●●●●●
22. 76596598 c.2545C>T p.R849X nonsense 0.00000825●●●●●●
23. 76572441 c.1674+1G>A essential splice site 0.00000824●●●●●●
24. 76572432 c.1666C>T p.R556X nonsense 0.00000824●●●●●●
25. 76623839 c.3499C>T p.Q1167X 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.