CAV3 non-truncating variants in ExAC


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