TNNI3 variants in ExAC

TNNI3 gene summary
TNNI3 variants in HCM, DCM

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 frequency▼Populations*
1. 55668953 c.5C>T p.A2V missense 0.00003325●●●●●●
2. 55667631 c.220C>A p.R74S missense 0.00001967●●●●●●
3. 55667616 c.235C>T p.R79C missense 0.00043177●●●●●●
4. 55667607 c.244C>T p.P82S missense 0.00169370●●●●●●
5. 55665540 c.407G>A p.R136Q missense 0.00000831●●●●●●
6. 55665513 c.434G>A p.R145Q missense 0.00002490●●●●●●
7. 55665514 c.433C>T p.R145W missense 0.00000830●●●●●●
8. 55665462 c.485G>A p.R162Q missense 0.00002498●●●●●●
9. 55665463 c.484C>T p.R162W missense 0.00003328●●●●●●
10. 55665450 c.497C>T p.S166F missense 0.00000834●●●●●●
11. 55663249 c.586G>A p.D196N missense 0.00000828●●●●●●
12. 55666134 c.347C>G p.A116G missense 0.00001668●●●●●●
13. 55666125 c.356C>A p.T119N missense 0.00003344●●●●●●
14. 55666188 c.293G>A p.R98Q missense 0.00000835●●●●●●
15. 55668434 c.92C>T p.T31M missense 0.00001723●●●●●●
16. 55666177 c.304G>A p.A102T missense 0.00002499●●●●●●
17. 55665519 c.428C>A p.T143N missense 0.00002490●●●●●●
18. 55667684 c.167T>C p.I56T missense 0.00002453●●●●●●
19. 55668492 c.34C>A p.P12T missense 0.00001425●●●●●●
20. 55663224 c.611G>T p.R204L missense 0.00000828●●●●●●
21. 55663232 c.603G>C p.M201I missense 0.00000828●●●●●●
22. 55663254 c.581A>C p.N194T missense 0.00000828●●●●●●
23. 55663274 c.561G>T p.E187D missense 0.00000829●●●●●●
24. 55663279 c.556C>T p.R186W missense 0.00000830●●●●●●
25. 55665406 c.541A>G p.T181A missense 0.00000841●●●●●●
26. 55665465 c.482C>T p.A161V missense 0.00001664●●●●●●
27. 55665484 c.463A>G p.M155V missense 0.00000830●●●●●●
28. 55665508 c.439G>C p.V147L missense 0.00000830●●●●●●
29. 55665526 c.421C>T p.R141W missense 0.00000830●●●●●●
30. 55666111 c.370G>C p.E124Q missense 0.00000844●●●●●●
31. 55666113 c.368C>T p.T123M missense 0.00002526●●●●●●
32. 55666140 c.341T>C p.I114T missense 0.00000833●●●●●●
33. 55666141 c.340A>G p.I114V missense 0.00000833●●●●●●
34. 55666150 c.331A>G p.R111G missense 0.00003329●●●●●●
35. 55666159 c.322G>A p.D108N missense 0.00000832●●●●●●
36. 55666163 c.318G>C p.K106N missense 0.00004160●●●●●●
37. 55666173 c.308G>A p.R103H missense 0.00001665●●●●●●
38. 55666183 c.298C>T p.L100F missense 0.00000834●●●●●●
39. 55666189 c.292C>G p.R98G missense 0.00000835●●●●●●
40. 55667573 c.278T>C p.L93P missense 0.00000883●●●●●●
41. 55667579 c.272C>T p.A91V missense 0.00000885●●●●●●
42. 55667588 c.263T>G p.L88R missense 0.00000890●●●●●●
43. 55667592 c.259G>A p.G87R missense 0.00000894●●●●●●
44. 55667601 c.250G>C p.E84Q missense 0.00000906●●●●●●
45. 55667606 c.245C>G p.P82R missense 0.00000921●●●●●●
46. 55667612 c.239G>A p.C80Y missense 0.00000930●●●●●●
47. 55667615 c.236G>T p.R79L missense 0.00004684●●●●●●
48. 55667631 c.220C>G p.R74G missense 0.00000983●●●●●●
49. 55667651 c.200A>T p.E67V missense 0.00003250●●●●●●
50. 55667673 c.178G>C p.E60Q missense 0.00004720●●●●●●
51. 55667685 c.166A>G p.I56V missense 0.00001231●●●●●●
52. 55667693 c.158T>G p.L53R missense 0.00001274●●●●●●
53. 55667694 c.157C>G p.L53V missense 0.00001311●●●●●●
54. 55667978 c.143A>C p.Q48P missense 0.00012526●●●●●●
55. 55668469 c.57C>G p.I19M missense 0.00001447●●●●●●
56. 55668471 c.55A>G p.I19V missense 0.00004328●●●●●●
57. 55668474 c.52C>A p.P18T missense 0.00002876●●●●●●
58. 55668492 c.34C>T p.P12S missense 0.00004276●●●●●●
59. 55668665 c.23C>T p.A8V missense 0.00000931●●●●●●
60. 55666189 c.292C>T p.R98X nonsense 0.00009187●●●●●●
61. 55663203 c.632G>T nonsense 0.00000828●●●●●●
62. 55665578 c.373-4C>G splice site 0.00009159●●●●●●
63. 55668509 c.25-8T>A splice site 0.35374061●●●●●●
64. 55666101 c.372+8G>T splice site 0.00003428●●●●●●
65. 55668505 c.25-4C>T splice site 0.00027221●●●●●●
66. 55667554 c.282+15G>A splice site 0.00000879●●●●●●
67. 55666102 c.372+7C>T splice site 0.00002561●●●●●●
68. 55667706 c.151-6C>G splice site 0.00008282●●●●●●
69. 55668683 c.12-7delC splice site 0.00047899●●●●●●
70. 55663295 c.550-10C>T splice site 0.00056841●●●●●●
71. 55665584 c.373-10T>G splice site 0.99996672●●●●●●
72. 55663293 c.550-8T>A splice site 0.00001669●●●●●●
73. 55665395 c.549+3G>T splice site 0.00001686●●●●●●
74. 55665577 c.373-3C>T splice site 0.00000833●●●●●●
75. 55665577 c.373-3C>A splice site 0.00000833●●●●●●
76. 55665581 c.373-7C>T splice site 0.00000833●●●●●●
77. 55667564 c.282+5C>T splice site 0.00001761●●●●●●
78. 55667707 c.151-7T>C splice site 0.00001383●●●●●●
79. 55667971 c.150G>A splice site 0.00004211●●●●●●
80. 55668020 c.109-8C>G splice site 0.00004149●●●●●●
81. 55668410 c.108+8G>T splice site 0.00011865●●●●●●
82. 55668507 c.25-6A>G splice site 0.00001438●●●●●●
83. 55668657 c.24+7G>T splice site 0.00003731●●●●●●
84. 55668664 c.24G>A splice site 0.00000929●●●●●●
85. 55668676 c.12G>C splice site 0.00000924●●●●●●
86. 55668680 c.12-4C>T splice site 0.00000918●●●●●●
87. 55668939 c.11+8A>G splice site 0.00000831●●●●●●
88. 55665575 c.373-1G>T essential splice site 0.00000832●●●●●●
89. 55668662 c.24+2T>A essential splice site 0.00000929●●●●●●
90. 55667593 c.258delC frameshift 0.00000894●●●●●●
91. 55668007 c.114dupA p.Ser39IlefsTer2 frameshift 0.00012343●●●●●●
92. 55667647 c.204delG p.Arg69AlafsTer8 frameshift 0.00006338●●●●●●
93. 55668431 c.95_99dupAGCCG p.His34SerfsTer18 frameshift 0.00001930●●●●●●

* 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.