TNNI3 protein-altering variants in ExAC


The table below lists the TNNI3 protein-altering 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. 55668662 c.24+2T>A essential splice site 0.00000929
4. 55668492 c.34C>A p.P12T missense 0.00001425
5. 55668492 c.34C>T p.P12S missense 0.00004276
6. 55668474 c.52C>A p.P18T missense 0.00002876
7. 55668471 c.55A>G p.I19V missense 0.00004328
8. 55668469 c.57C>G p.I19M missense 0.00001447
9. 55668434 c.92C>T p.T31M missense 0.00001723
10. 55668431 c.95_99dupAGCCG p.His34SerfsTer18 frameshift 0.00001930
11. 55667694 c.157C>G p.L53V missense 0.00001311
12. 55667693 c.158T>G p.L53R missense 0.00001274
13. 55667685 c.166A>G p.I56V missense 0.00001231
14. 55667684 c.167T>C p.I56T missense 0.00002453
15. 55667673 c.178G>C p.E60Q missense 0.00004720
16. 55667651 c.200A>T p.E67V missense 0.00003250
17. 55667647 c.204delG p.Arg69AlafsTer8 frameshift 0.00006338
18. 55667631 c.220C>A p.R74S missense 0.00001967
19. 55667631 c.220C>G p.R74G missense 0.00000983
20. 55667615 c.236G>T p.R79L missense 0.00004684
21. 55667612 c.239G>A p.C80Y missense 0.00000930
22. 55667606 c.245C>G p.P82R missense 0.00000921
23. 55667601 c.250G>C p.E84Q missense 0.00000906
24. 55667593 c.258delC frameshift 0.00000894
25. 55667592 c.259G>A p.G87R missense 0.00000894
26. 55667588 c.263T>G p.L88R missense 0.00000890
27. 55667579 c.272C>T p.A91V missense 0.00000885
28. 55667573 c.278T>C p.L93P missense 0.00000883
29. 55666189 c.292C>G p.R98G missense 0.00000835
30. 55666189 c.292C>T p.R98X nonsense 0.00009187
31. 55666188 c.293G>A p.R98Q missense 0.00000835
32. 55666183 c.298C>T p.L100F missense 0.00000834
33. 55666177 c.304G>A p.A102T missense 0.00002499
34. 55666173 c.308G>A p.R103H missense 0.00001665
35. 55666163 c.318G>C p.K106N missense 0.00004160
36. 55666159 c.322G>A p.D108N missense 0.00000832
37. 55666150 c.331A>G p.R111G missense 0.00003329
38. 55666141 c.340A>G p.I114V missense 0.00000833
39. 55666140 c.341T>C p.I114T missense 0.00000833
40. 55666134 c.347C>G p.A116G missense 0.00001668
41. 55666125 c.356C>A p.T119N missense 0.00003344
42. 55666113 c.368C>T p.T123M missense 0.00002526
43. 55666111 c.370G>C p.E124Q missense 0.00000844
44. 55665575 c.373-1G>T essential splice site 0.00000832
45. 55665540 c.407G>A p.R136Q missense 0.00000831
46. 55665526 c.421C>T p.R141W missense 0.00000830
47. 55665519 c.428C>A p.T143N missense 0.00002490
48. 55665514 c.433C>T p.R145W missense 0.00000830
49. 55665513 c.434G>A p.R145Q missense 0.00002490
50. 55665508 c.439G>C p.V147L missense 0.00000830
51. 55665484 c.463A>G p.M155V missense 0.00000830
52. 55665465 c.482C>T p.A161V missense 0.00001664
53. 55665463 c.484C>T p.R162W missense 0.00003328
54. 55665462 c.485G>A p.R162Q missense 0.00002498
55. 55665450 c.497C>T p.S166F missense 0.00000834
56. 55665406 c.541A>G p.T181A missense 0.00000841
57. 55663279 c.556C>T p.R186W missense 0.00000830
58. 55663274 c.561G>T p.E187D missense 0.00000829
59. 55663254 c.581A>C p.N194T missense 0.00000828
60. 55663249 c.586G>A p.D196N missense 0.00000828
61. 55663232 c.603G>C p.M201I missense 0.00000828
62. 55663224 c.611G>T p.R204L missense 0.00000828
63. 55663203 c.632G>T nonsense 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.