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