TNNI3 non-truncating variants in ExAC


The table below lists the TNNI3 non-truncating 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 frequencyPopulations*
1. 55667673 c.178G>C p.E60Q missense 0.00004720
2. 55667615 c.236G>T p.R79L missense 0.00004684
3. 55668471 c.55A>G p.I19V missense 0.00004328
4. 55668492 c.34C>T p.P12S missense 0.00004276
5. 55666163 c.318G>C p.K106N missense 0.00004160
6. 55666125 c.356C>A p.T119N missense 0.00003344
7. 55666150 c.331A>G p.R111G missense 0.00003329
8. 55665463 c.484C>T p.R162W missense 0.00003328
9. 55668953 c.5C>T p.A2V missense 0.00003325
10. 55667651 c.200A>T p.E67V missense 0.00003250
11. 55668474 c.52C>A p.P18T missense 0.00002876
12. 55666113 c.368C>T p.T123M missense 0.00002526
13. 55666177 c.304G>A p.A102T missense 0.00002499
14. 55665462 c.485G>A p.R162Q missense 0.00002498
15. 55665519 c.428C>A p.T143N missense 0.00002490
16. 55665513 c.434G>A p.R145Q missense 0.00002490
17. 55667684 c.167T>C p.I56T missense 0.00002453
18. 55667631 c.220C>A p.R74S missense 0.00001967
19. 55668434 c.92C>T p.T31M missense 0.00001723
20. 55666134 c.347C>G p.A116G missense 0.00001668
21. 55666173 c.308G>A p.R103H missense 0.00001665
22. 55665465 c.482C>T p.A161V missense 0.00001664
23. 55668469 c.57C>G p.I19M missense 0.00001447
24. 55668492 c.34C>A p.P12T missense 0.00001425
25. 55667694 c.157C>G p.L53V missense 0.00001311
26. 55667693 c.158T>G p.L53R missense 0.00001274
27. 55667685 c.166A>G p.I56V missense 0.00001231
28. 55667631 c.220C>G p.R74G missense 0.00000983
29. 55668665 c.23C>T p.A8V missense 0.00000931
30. 55667612 c.239G>A p.C80Y missense 0.00000930
31. 55667606 c.245C>G p.P82R missense 0.00000921
32. 55667601 c.250G>C p.E84Q missense 0.00000906
33. 55667592 c.259G>A p.G87R missense 0.00000894
34. 55667588 c.263T>G p.L88R missense 0.00000890
35. 55667579 c.272C>T p.A91V missense 0.00000885
36. 55667573 c.278T>C p.L93P missense 0.00000883
37. 55666111 c.370G>C p.E124Q missense 0.00000844
38. 55665406 c.541A>G p.T181A missense 0.00000841
39. 55666188 c.293G>A p.R98Q missense 0.00000835
40. 55666189 c.292C>G p.R98G missense 0.00000835
41. 55665450 c.497C>T p.S166F missense 0.00000834
42. 55666183 c.298C>T p.L100F missense 0.00000834
43. 55666141 c.340A>G p.I114V missense 0.00000833
44. 55666140 c.341T>C p.I114T missense 0.00000833
45. 55666159 c.322G>A p.D108N missense 0.00000832
46. 55665540 c.407G>A p.R136Q missense 0.00000831
47. 55665484 c.463A>G p.M155V missense 0.00000830
48. 55665514 c.433C>T p.R145W missense 0.00000830
49. 55663279 c.556C>T p.R186W missense 0.00000830
50. 55665508 c.439G>C p.V147L missense 0.00000830
51. 55665526 c.421C>T p.R141W missense 0.00000830
52. 55663274 c.561G>T p.E187D missense 0.00000829
53. 55663224 c.611G>T p.R204L missense 0.00000828
54. 55663249 c.586G>A p.D196N missense 0.00000828
55. 55663232 c.603G>C p.M201I missense 0.00000828
56. 55663254 c.581A>C p.N194T missense 0.00000828

* 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.