TNNC1 missense variants in ExAC

TNNC1 gene summary
TNNC1 variants in DCM, HCM

The table below lists the TNNC1 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 frequency▼Populations*
1. 52485426 c.435C>A p.D145E missense 0.00023220●●●●●●
2. 52485425 c.436G>A p.G146S missense 0.00001659●●●●●●
3. 52485524 c.337G>A p.D113N missense 0.00001655●●●●●●
4. 52485772 c.305G>T p.R102L missense 0.00001651●●●●●●
5. 52485869 c.208G>A p.G70S missense 0.00001651●●●●●●
6. 52485303 c.474G>C p.K158N missense 0.00000830●●●●●●
7. 52485421 c.440G>A p.R147H missense 0.00000830●●●●●●
8. 52485442 c.419G>A p.G140E missense 0.00000829●●●●●●
9. 52485475 c.386C>T p.T129M missense 0.00000829●●●●●●
10. 52485426 c.435C>G p.D145E missense 0.00000829●●●●●●
11. 52485308 c.469A>C p.M157L missense 0.00000829●●●●●●
12. 52485419 c.442A>G p.I148V missense 0.00000829●●●●●●
13. 52485451 c.410T>C p.M137T missense 0.00000829●●●●●●
14. 52485430 c.431A>G p.N144S missense 0.00000829●●●●●●
15. 52485428 c.433G>A p.D145N missense 0.00000829●●●●●●
16. 52485458 c.403G>A p.E135K missense 0.00000829●●●●●●
17. 52485435 c.426G>C p.K142N missense 0.00000829●●●●●●
18. 52485505 c.356T>C p.I119T missense 0.00000828●●●●●●
19. 52485485 c.376G>A p.E126K missense 0.00000828●●●●●●
20. 52485494 c.367G>A p.A123T missense 0.00000828●●●●●●
21. 52485501 c.360G>A p.M120I missense 0.00000828●●●●●●
22. 52485527 c.334A>T p.I112F missense 0.00000828●●●●●●
23. 52485761 c.316A>C p.K106Q missense 0.00000826●●●●●●
24. 52485772 c.305G>A p.R102H missense 0.00000826●●●●●●
25. 52485835 c.242T>C p.M81T missense 0.00000825●●●●●●
26. 52485773 c.304C>T p.R102C missense 0.00000825●●●●●●
27. 52485852 c.225T>G p.D75E missense 0.00000825●●●●●●
28. 52485779 c.298C>A p.L100I missense 0.00000825●●●●●●
29. 52485818 c.259G>T p.D87Y missense 0.00000825●●●●●●
30. 52485834 c.243G>C p.M81I missense 0.00000825●●●●●●

* 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.