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