CAV3 protein-altering variants in ExAC


The table below lists the CAV3 protein-altering 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. 8787222 c.125A>C p.E42A missense 0.00004976
2. 8775662 c.100G>A p.E34K missense 0.00000846
3. 8787266 c.169G>A p.V57M missense 0.00001653
4. 8787330 c.233C>A p.T78K missense 0.00000828
5. 8787341 c.244G>A p.V82I missense 0.00005795
6. 8787357 c.260T>C p.L87P missense 0.00000827
7. 8787374 c.277G>T p.A93S missense 0.00004133
8. 8775590 c.28G>A p.E10K missense 0.00003359
9. 8787318 c.221G>A p.R74H missense 0.00003308
10. 8787498 c.401C>T p.A134V missense 0.00001649
11. 8775671 c.109G>C p.V37L missense 0.00000858
12. 8775617 c.55T>C p.C19R missense 0.00002501
13. 8775627 c.65T>C p.I22T missense 0.00001666
14. 8775651 c.89A>G p.K30R missense 0.00002503
15. 8775668 c.106A>G p.I36V missense 0.00000852
16. 8787226 c.129C>A p.D43E missense 0.00000829
17. 8787257 c.160T>G p.F54V missense 0.00000827
18. 8787260 c.163G>T p.D55Y missense 0.00000827
19. 8787282 c.185A>G p.Y62C missense 0.00000826
20. 8787308 c.211T>C p.W71R missense 0.00000827
21. 8787317 c.220C>T p.R74C missense 0.00000828
22. 8787324 c.227T>G p.L76W missense 0.00000827
23. 8787339 c.242G>A p.G81D missense 0.00000827
24. 8787356 c.259C>T p.L87F missense 0.00000827
25. 8787357 c.260T>A p.L87H missense 0.00000827
26. 8787404 c.307G>A p.V103M missense 0.00000825
27. 8787410 c.313C>T p.P105S missense 0.00001649
28. 8787413 c.316T>C p.C106R missense 0.00000824
29. 8787442 c.345G>C p.Q115H missense 0.00000824
30. 8787473 c.376C>T p.R126C missense 0.00000824
31. 8787497 c.400G>A p.A134T missense 0.00001649
32. 8787497 c.400G>C p.A134P missense 0.00005770
33. 8787497 c.400G>T p.A134S missense 0.00000824
34. 8787498 c.401C>A p.A134E missense 0.00000824
35. 8787513 c.416T>C p.V139A missense 0.00001650
36. 8787542 c.445A>C p.K149Q missense 0.00000833
37. 8787548 c.451G>A p.V151I missense 0.00001670
38. 8787552 c.455A>G nonsense 0.00001674
39. 8787210 c.115-2A>T essential splice site 0.00000835
40. 8787262 c.165delC p.Asp55GlufsTer6 frameshift 0.00000827
41. 8787360 c.263delG p.Gly89AlafsTer23 frameshift 0.00003308

* 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.