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. 52486276 c.56-8G>A splice site 0.00001658●●●●●●
9. 52485321 c.456G>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. 52485303 c.474G>C p.K158N missense 0.00000830●●●●●●
16. 52485400 c.454+7G>A splice site 0.00000830●●●●●●
17. 52485421 c.440G>A p.R147H missense 0.00000830●●●●●●
18. 52485404 c.454+3A>G splice site 0.00000830●●●●●●
19. 52485402 c.454+5G>A splice site 0.00000830●●●●●●
20. 52485419 c.442A>G p.I148V missense 0.00000829●●●●●●
21. 52486274 c.56-6A>T splice site 0.00000829●●●●●●
22. 52485475 c.386C>T p.T129M missense 0.00000829●●●●●●
23. 52485430 c.431A>G p.N144S missense 0.00000829●●●●●●
24. 52485428 c.433G>A p.D145N missense 0.00000829●●●●●●
25. 52485308 c.469A>C p.M157L missense 0.00000829●●●●●●
26. 52485426 c.435C>G p.D145E missense 0.00000829●●●●●●
27. 52485458 c.403G>A p.E135K missense 0.00000829●●●●●●
28. 52485435 c.426G>C p.K142N missense 0.00000829●●●●●●
29. 52485442 c.419G>A p.G140E missense 0.00000829●●●●●●
30. 52485451 c.410T>C p.M137T missense 0.00000829●●●●●●
31. 52485550 c.318-7C>T splice site 0.00000828●●●●●●
32. 52485505 c.356T>C p.I119T missense 0.00000828●●●●●●
33. 52485501 c.360G>A p.M120I missense 0.00000828●●●●●●
34. 52486116 c.202+6C>T splice site 0.00000828●●●●●●
35. 52485485 c.376G>A p.E126K missense 0.00000828●●●●●●
36. 52485494 c.367G>A p.A123T missense 0.00000828●●●●●●
37. 52485527 c.334A>T p.I112F missense 0.00000828●●●●●●
38. 52486119 c.202+3G>A splice site 0.00000827●●●●●●
39. 52485761 c.316A>C p.K106Q missense 0.00000826●●●●●●
40. 52485878 c.203-4C>G splice site 0.00000826●●●●●●
41. 52486162 c.162delT p.Glu55ArgfsTer6 frameshift 0.00000826●●●●●●
42. 52485772 c.305G>A p.R102H missense 0.00000826●●●●●●
43. 52485818 c.259G>T p.D87Y missense 0.00000825●●●●●●
44. 52485834 c.243G>C p.M81I missense 0.00000825●●●●●●
45. 52485773 c.304C>T p.R102C missense 0.00000825●●●●●●
46. 52485779 c.298C>A p.L100I missense 0.00000825●●●●●●
47. 52485852 c.225T>G p.D75E 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.