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. 55666189 c.292C>T p.R98X nonsense 0.00009187
2. 55667647 c.204delG p.Arg69AlafsTer8 frameshift 0.00006338
3. 55667673 c.178G>C p.E60Q missense 0.00004720
4. 55667615 c.236G>T p.R79L missense 0.00004684
5. 55668471 c.55A>G p.I19V missense 0.00004328
6. 55668492 c.34C>T p.P12S missense 0.00004276
7. 55666163 c.318G>C p.K106N missense 0.00004160
8. 55666125 c.356C>A p.T119N missense 0.00003344
9. 55666150 c.331A>G p.R111G missense 0.00003329
10. 55665463 c.484C>T p.R162W missense 0.00003328
11. 55668953 c.5C>T p.A2V missense 0.00003325
12. 55667651 c.200A>T p.E67V missense 0.00003250
13. 55668474 c.52C>A p.P18T missense 0.00002876
14. 55666113 c.368C>T p.T123M missense 0.00002526
15. 55666177 c.304G>A p.A102T missense 0.00002499
16. 55665462 c.485G>A p.R162Q missense 0.00002498
17. 55665519 c.428C>A p.T143N missense 0.00002490
18. 55665513 c.434G>A p.R145Q missense 0.00002490
19. 55667684 c.167T>C p.I56T missense 0.00002453
20. 55667631 c.220C>A p.R74S missense 0.00001967
21. 55668431 c.95_99dupAGCCG p.His34SerfsTer18 frameshift 0.00001930
22. 55668434 c.92C>T p.T31M missense 0.00001723
23. 55666134 c.347C>G p.A116G missense 0.00001668
24. 55666173 c.308G>A p.R103H missense 0.00001665
25. 55665465 c.482C>T p.A161V missense 0.00001664
26. 55668469 c.57C>G p.I19M missense 0.00001447
27. 55668492 c.34C>A p.P12T missense 0.00001425
28. 55667694 c.157C>G p.L53V missense 0.00001311
29. 55667693 c.158T>G p.L53R missense 0.00001274
30. 55667685 c.166A>G p.I56V missense 0.00001231
31. 55667631 c.220C>G p.R74G missense 0.00000983
32. 55668665 c.23C>T p.A8V missense 0.00000931
33. 55667612 c.239G>A p.C80Y missense 0.00000930
34. 55668662 c.24+2T>A essential splice site 0.00000929
35. 55667606 c.245C>G p.P82R missense 0.00000921
36. 55667601 c.250G>C p.E84Q missense 0.00000906
37. 55667593 c.258delC frameshift 0.00000894
38. 55667592 c.259G>A p.G87R missense 0.00000894
39. 55667588 c.263T>G p.L88R missense 0.00000890
40. 55667579 c.272C>T p.A91V missense 0.00000885
41. 55667573 c.278T>C p.L93P missense 0.00000883
42. 55666111 c.370G>C p.E124Q missense 0.00000844
43. 55665406 c.541A>G p.T181A missense 0.00000841
44. 55666188 c.293G>A p.R98Q missense 0.00000835
45. 55666189 c.292C>G p.R98G missense 0.00000835
46. 55665450 c.497C>T p.S166F missense 0.00000834
47. 55666183 c.298C>T p.L100F missense 0.00000834
48. 55666140 c.341T>C p.I114T missense 0.00000833
49. 55666141 c.340A>G p.I114V missense 0.00000833
50. 55666159 c.322G>A p.D108N missense 0.00000832
51. 55665575 c.373-1G>T essential splice site 0.00000832
52. 55665540 c.407G>A p.R136Q missense 0.00000831
53. 55665484 c.463A>G p.M155V missense 0.00000830
54. 55665514 c.433C>T p.R145W missense 0.00000830
55. 55663279 c.556C>T p.R186W missense 0.00000830
56. 55665508 c.439G>C p.V147L missense 0.00000830
57. 55665526 c.421C>T p.R141W missense 0.00000830
58. 55663274 c.561G>T p.E187D missense 0.00000829
59. 55663224 c.611G>T p.R204L missense 0.00000828
60. 55663249 c.586G>A p.D196N missense 0.00000828
61. 55663203 c.632G>T nonsense 0.00000828
62. 55663232 c.603G>C p.M201I missense 0.00000828
63. 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.