MYBPC3 truncating variants in ExAC


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

* 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.