MYBPC3 truncating variants in ExAC

MYBPC3 gene summary
MYBPC3 variants in HCM, DCM

The table below lists the MYBPC3 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. 47373058 c.26-2A>G essential splice site 0.00005114●●●●●●
2. 47372984 c.98_99delCA p.Thr33ArgfsTer15 frameshift 0.00001118●●●●●●
3. 47371664 c.407-1G>A essential splice site 0.00004694●●●●●●
4. 47369407 c.821+1G>A essential splice site 0.00004310●●●●●●
5. 47369031 c.852-1G>T essential splice site 0.00002037●●●●●●
6. 47368581 c.906-1G>C essential splice site 0.00000884●●●●●●
7. 47368177 c.926+1G>A essential splice site 0.00001840●●●●●●
8. 47367810 c.1038_1042dupCGGCA frameshift 0.00000842●●●●●●
9. 47365123 c.1143_1144insTC p.Arg382SerfsTer3 frameshift 0.00000970●●●●●●
10. 47365122 c.1144delC p.Arg382GlyfsTer2 frameshift 0.00000975●●●●●●
11. 47364250 c.1503C>G p.Y501X nonsense 0.00000829●●●●●●
12. 47363693 c.1639delG p.Val547CysfsTer8 frameshift 0.00000845●●●●●●
13. 47362773 c.1813_1814insCG p.D605Afs*59 frameshift 0.00002092●●●●●●
14. 47360910 c.2113dupA frameshift 0.00000828●●●●●●
15. 47359281 c.2373_2374insG p.Trp792ValfsTer41 frameshift 0.00003782●●●●●●
16. 47359132 c.2414-2A>G essential splice site 0.00000831●●●●●●
17. 47359054 c.2490_2491insT p.His831SerfsTer2 frameshift 0.00002486●●●●●●
18. 47358989 c.2555_2556insT p.Gly853ArgfsTer31 frameshift 0.00000850●●●●●●
19. 47356671 c.2827C>T p.R943X nonsense 0.00001700●●●●●●
20. 47355130 c.3168delC p.Thr1057ArgfsTer18 frameshift 0.00000834●●●●●●
21. 47355117 c.3181C>T p.Q1061X nonsense 0.00001675●●●●●●
22. 47355106 c.3190+2T>G essential splice site 0.00001689●●●●●●
23. 47354842 c.3233G>A p.W1078X nonsense 0.00002270●●●●●●
24. 47354818 c.3257G>A p.W1086X nonsense 0.00002179●●●●●●
25. 47354483 c.3372C>A p.C1124X nonsense 0.00002275●●●●●●
26. 47353795 c.3642G>A p.W1214X nonsense 0.00000830●●●●●●
27. 47353740 c.3697C>T p.Q1233X nonsense 0.00000829●●●●●●
28. 47353626 c.3811C>T p.R1271X nonsense 0.00002571●●●●●●

* 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.