ACTC1 missense variants in ExAC


The table below lists the ACTC1 missense 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 frequencyPopulations*
1. 35084476 c.623G>A p.R208H missense 0.00004119
2. 35086982 c.28C>A p.L10M missense 0.00002517
3. 35085671 c.229A>G p.I77V missense 0.00002471
4. 35083338 c.967G>A p.A323T missense 0.00001715
5. 35086987 c.23C>G p.T8S missense 0.00001676
6. 35086991 c.19A>T p.T7S missense 0.00001676
7. 35082753 c.994A>G p.I332V missense 0.00001654
8. 35085683 c.217A>G p.I73V missense 0.00001648
9. 35086904 c.106A>G p.I36V missense 0.00000871
10. 35087008 c.2T>C p.Met1? missense 0.00000839
11. 35085640 c.260T>G p.I87S missense 0.00000824
12. 35083402 c.903A>C p.L301F missense 0.00000824
13. 35082737 c.1010G>A p.R337H missense 0.00000824
14. 35085599 c.301G>A p.E101K missense 0.00000824
15. 35084421 c.678G>T p.E226D missense 0.00000824
16. 35084689 c.536G>T p.R179L missense 0.00000824
17. 35083458 c.847A>G p.S283G missense 0.00000824
18. 35085632 c.268C>T p.H90Y missense 0.00000824
19. 35084611 c.614C>G p.T205S missense 0.00000824
20. 35084386 c.713T>C p.L238P missense 0.00000824
21. 35085611 c.289C>T p.R97C missense 0.00000824
22. 35085619 c.281A>G p.N94S missense 0.00000824
23. 35082662 c.1085A>C p.Q362P missense 0.00000824
24. 35084411 c.688G>T p.A230S 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.