TNNC1 variants in ExAC

TNNC1 gene summary
TNNC1 variants in DCM, HCM

The table below lists the TNNC1 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. 52485879 c.203-5C>T splice site 0.00046232●●●●●●
2. 52485426 c.435C>A p.D145E missense 0.00023220●●●●●●
3. 52486123 c.201C>T p.D67D splice site 0.00019844●●●●●●
4. 52486117 c.202+5G>C splice site 0.00006620●●●●●●
5. 52488008 c.24G>A splice site 0.00002379●●●●●●
6. 52488007 c.24+1G>A essential splice site 0.00002368●●●●●●
7. 52485425 c.436G>A p.G146S missense 0.00001659●●●●●●
8. 52485321 c.456G>A splice site 0.00001658●●●●●●
9. 52486276 c.56-8G>A splice site 0.00001658●●●●●●
10. 52485524 c.337G>A p.D113N missense 0.00001655●●●●●●
11. 52485752 c.317+8C>T splice site 0.00001653●●●●●●
12. 52485869 c.208G>A p.G70S missense 0.00001651●●●●●●
13. 52485772 c.305G>T p.R102L missense 0.00001651●●●●●●
14. 52486536 c.25-7T>C splice site 0.00000933●●●●●●
15. 52485402 c.454+5G>A splice site 0.00000830●●●●●●
16. 52485421 c.440G>A p.R147H missense 0.00000830●●●●●●
17. 52485400 c.454+7G>A splice site 0.00000830●●●●●●
18. 52485303 c.474G>C p.K158N missense 0.00000830●●●●●●
19. 52485404 c.454+3A>G splice site 0.00000830●●●●●●
20. 52485451 c.410T>C p.M137T missense 0.00000829●●●●●●
21. 52485419 c.442A>G p.I148V missense 0.00000829●●●●●●
22. 52485430 c.431A>G p.N144S missense 0.00000829●●●●●●
23. 52485458 c.403G>A p.E135K missense 0.00000829●●●●●●
24. 52485428 c.433G>A p.D145N missense 0.00000829●●●●●●
25. 52485435 c.426G>C p.K142N missense 0.00000829●●●●●●
26. 52485475 c.386C>T p.T129M missense 0.00000829●●●●●●
27. 52485426 c.435C>G p.D145E missense 0.00000829●●●●●●
28. 52485442 c.419G>A p.G140E missense 0.00000829●●●●●●
29. 52486274 c.56-6A>T splice site 0.00000829●●●●●●
30. 52485308 c.469A>C p.M157L missense 0.00000829●●●●●●
31. 52486116 c.202+6C>T splice site 0.00000828●●●●●●
32. 52485550 c.318-7C>T splice site 0.00000828●●●●●●
33. 52485494 c.367G>A p.A123T missense 0.00000828●●●●●●
34. 52485527 c.334A>T p.I112F missense 0.00000828●●●●●●
35. 52485501 c.360G>A p.M120I missense 0.00000828●●●●●●
36. 52485505 c.356T>C p.I119T missense 0.00000828●●●●●●
37. 52485485 c.376G>A p.E126K missense 0.00000828●●●●●●
38. 52486119 c.202+3G>A splice site 0.00000827●●●●●●
39. 52486162 c.162delT p.Glu55ArgfsTer6 frameshift 0.00000826●●●●●●
40. 52485878 c.203-4C>G splice site 0.00000826●●●●●●
41. 52485772 c.305G>A p.R102H missense 0.00000826●●●●●●
42. 52485761 c.316A>C p.K106Q missense 0.00000826●●●●●●
43. 52485852 c.225T>G p.D75E missense 0.00000825●●●●●●
44. 52485773 c.304C>T p.R102C missense 0.00000825●●●●●●
45. 52485779 c.298C>A p.L100I missense 0.00000825●●●●●●
46. 52485834 c.243G>C p.M81I missense 0.00000825●●●●●●
47. 52485818 c.259G>T p.D87Y missense 0.00000825●●●●●●
48. 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.