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. 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. 55666188 c.293G>A p.R98Q missense 0.00000835●●●●●●
71. 55666189 c.292C>G p.R98G 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. 55668939 c.11+8A>G splice site 0.00000831●●●●●●
82. 55665540 c.407G>A p.R136Q missense 0.00000831●●●●●●
83. 55663279 c.556C>T p.R186W missense 0.00000830●●●●●●
84. 55665484 c.463A>G p.M155V missense 0.00000830●●●●●●
85. 55665514 c.433C>T p.R145W missense 0.00000830●●●●●●
86. 55665508 c.439G>C p.V147L missense 0.00000830●●●●●●
87. 55665526 c.421C>T p.R141W missense 0.00000830●●●●●●
88. 55663274 c.561G>T p.E187D missense 0.00000829●●●●●●
89. 55663224 c.611G>T p.R204L missense 0.00000828●●●●●●
90. 55663232 c.603G>C p.M201I missense 0.00000828●●●●●●
91. 55663203 c.632G>T nonsense 0.00000828●●●●●●
92. 55663254 c.581A>C p.N194T missense 0.00000828●●●●●●
93. 55663249 c.586G>A p.D196N 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.