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

* 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.