TNNC1 protein-altering variants in ExAC

TNNC1 gene summary
TNNC1 variants in DCM, HCM

The table below lists the TNNC1 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 frequency▼Populations*
1. 52488007 c.24+1G>A essential splice site 0.00002368●●●●●●
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. 52485426 c.435C>G p.D145E missense 0.00000829●●●●●●
9. 52485451 c.410T>C p.M137T missense 0.00000829●●●●●●
10. 52485308 c.469A>C p.M157L missense 0.00000829●●●●●●
11. 52485430 c.431A>G p.N144S missense 0.00000829●●●●●●
12. 52485419 c.442A>G p.I148V missense 0.00000829●●●●●●
13. 52485458 c.403G>A p.E135K missense 0.00000829●●●●●●
14. 52485435 c.426G>C p.K142N missense 0.00000829●●●●●●
15. 52485442 c.419G>A p.G140E missense 0.00000829●●●●●●
16. 52485428 c.433G>A p.D145N missense 0.00000829●●●●●●
17. 52485475 c.386C>T p.T129M missense 0.00000829●●●●●●
18. 52485501 c.360G>A p.M120I missense 0.00000828●●●●●●
19. 52485485 c.376G>A p.E126K missense 0.00000828●●●●●●
20. 52485505 c.356T>C p.I119T missense 0.00000828●●●●●●
21. 52485494 c.367G>A p.A123T missense 0.00000828●●●●●●
22. 52485527 c.334A>T p.I112F missense 0.00000828●●●●●●
23. 52485761 c.316A>C p.K106Q missense 0.00000826●●●●●●
24. 52486162 c.162delT p.Glu55ArgfsTer6 frameshift 0.00000826●●●●●●
25. 52485772 c.305G>A p.R102H missense 0.00000826●●●●●●
26. 52485779 c.298C>A p.L100I missense 0.00000825●●●●●●
27. 52485773 c.304C>T p.R102C missense 0.00000825●●●●●●
28. 52485818 c.259G>T p.D87Y missense 0.00000825●●●●●●
29. 52485852 c.225T>G p.D75E missense 0.00000825●●●●●●
30. 52485834 c.243G>C p.M81I missense 0.00000825●●●●●●
31. 52485835 c.242T>C p.M81T 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.