TNNI3 variants in ExAC


The table below lists the TNNI3 variants found in the ExAC population database. 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. 55665584 c.373-10T>G splice site 0.99996672
2. 55668509 c.25-8T>A splice site 0.35374061
3. 55667607 c.244C>T p.P82S missense 0.00169370
4. 55663295 c.550-10C>T splice site 0.00056841
5. 55668683 c.12-7delC splice site 0.00047899
6. 55667616 c.235C>T p.R79C missense 0.00043177
7. 55668505 c.25-4C>T splice site 0.00027221
8. 55667978 c.143A>C p.Q48P missense 0.00012526
9. 55668007 c.114dupA p.Ser39IlefsTer2 frameshift 0.00012343
10. 55668410 c.108+8G>T splice site 0.00011865
11. 55666189 c.292C>T p.R98X nonsense 0.00009187
12. 55665578 c.373-4C>G splice site 0.00009159
13. 55667706 c.151-6C>G splice site 0.00008282
14. 55667647 c.204delG p.Arg69AlafsTer8 frameshift 0.00006338
15. 55667673 c.178G>C p.E60Q missense 0.00004720
16. 55667615 c.236G>T p.R79L missense 0.00004684
17. 55668471 c.55A>G p.I19V missense 0.00004328
18. 55668492 c.34C>T p.P12S missense 0.00004276
19. 55667971 c.150G>A splice site 0.00004211
20. 55666163 c.318G>C p.K106N missense 0.00004160
21. 55668020 c.109-8C>G splice site 0.00004149
22. 55668657 c.24+7G>T splice site 0.00003731
23. 55666101 c.372+8G>T splice site 0.00003428
24. 55666125 c.356C>A p.T119N missense 0.00003344
25. 55666150 c.331A>G p.R111G missense 0.00003329
26. 55665463 c.484C>T p.R162W missense 0.00003328
27. 55668953 c.5C>T p.A2V missense 0.00003325
28. 55667651 c.200A>T p.E67V missense 0.00003250
29. 55668474 c.52C>A p.P18T missense 0.00002876
30. 55666102 c.372+7C>T splice site 0.00002561
31. 55666113 c.368C>T p.T123M missense 0.00002526
32. 55666177 c.304G>A p.A102T missense 0.00002499
33. 55665462 c.485G>A p.R162Q missense 0.00002498
34. 55665513 c.434G>A p.R145Q missense 0.00002490
35. 55665519 c.428C>A p.T143N missense 0.00002490
36. 55667684 c.167T>C p.I56T missense 0.00002453
37. 55667631 c.220C>A p.R74S missense 0.00001967
38. 55668431 c.95_99dupAGCCG p.His34SerfsTer18 frameshift 0.00001930
39. 55667564 c.282+5C>T splice site 0.00001761
40. 55668434 c.92C>T p.T31M missense 0.00001723
41. 55665395 c.549+3G>T splice site 0.00001686
42. 55663293 c.550-8T>A splice site 0.00001669
43. 55666134 c.347C>G p.A116G missense 0.00001668
44. 55666173 c.308G>A p.R103H missense 0.00001665
45. 55665465 c.482C>T p.A161V missense 0.00001664
46. 55668469 c.57C>G p.I19M missense 0.00001447
47. 55668507 c.25-6A>G splice site 0.00001438
48. 55668492 c.34C>A p.P12T missense 0.00001425
49. 55667707 c.151-7T>C splice site 0.00001383
50. 55667694 c.157C>G p.L53V missense 0.00001311
51. 55667693 c.158T>G p.L53R missense 0.00001274
52. 55667685 c.166A>G p.I56V missense 0.00001231
53. 55667631 c.220C>G p.R74G missense 0.00000983
54. 55668665 c.23C>T p.A8V missense 0.00000931
55. 55667612 c.239G>A p.C80Y missense 0.00000930
56. 55668664 c.24G>A splice site 0.00000929
57. 55668662 c.24+2T>A essential splice site 0.00000929
58. 55668676 c.12G>C splice site 0.00000924
59. 55667606 c.245C>G p.P82R missense 0.00000921
60. 55668680 c.12-4C>T splice site 0.00000918
61. 55667601 c.250G>C p.E84Q missense 0.00000906
62. 55667593 c.258delC frameshift 0.00000894
63. 55667592 c.259G>A p.G87R missense 0.00000894
64. 55667588 c.263T>G p.L88R missense 0.00000890
65. 55667579 c.272C>T p.A91V missense 0.00000885
66. 55667573 c.278T>C p.L93P missense 0.00000883
67. 55667554 c.282+15G>A splice site 0.00000879
68. 55666111 c.370G>C p.E124Q missense 0.00000844
69. 55665406 c.541A>G p.T181A missense 0.00000841
70. 55666189 c.292C>G p.R98G missense 0.00000835
71. 55666188 c.293G>A p.R98Q missense 0.00000835
72. 55666183 c.298C>T p.L100F missense 0.00000834
73. 55665450 c.497C>T p.S166F missense 0.00000834
74. 55666141 c.340A>G p.I114V missense 0.00000833
75. 55665581 c.373-7C>T splice site 0.00000833
76. 55665577 c.373-3C>T splice site 0.00000833
77. 55666140 c.341T>C p.I114T missense 0.00000833
78. 55665577 c.373-3C>A splice site 0.00000833
79. 55666159 c.322G>A p.D108N missense 0.00000832
80. 55665575 c.373-1G>T essential splice site 0.00000832
81. 55665540 c.407G>A p.R136Q missense 0.00000831
82. 55668939 c.11+8A>G splice site 0.00000831
83. 55665526 c.421C>T p.R141W missense 0.00000830
84. 55665484 c.463A>G p.M155V missense 0.00000830
85. 55663279 c.556C>T p.R186W missense 0.00000830
86. 55665508 c.439G>C p.V147L missense 0.00000830
87. 55665514 c.433C>T p.R145W missense 0.00000830
88. 55663274 c.561G>T p.E187D missense 0.00000829
89. 55663249 c.586G>A p.D196N missense 0.00000828
90. 55663224 c.611G>T p.R204L missense 0.00000828
91. 55663232 c.603G>C p.M201I missense 0.00000828
92. 55663203 c.632G>T nonsense 0.00000828
93. 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.