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