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

* 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.