TNNT2 missense variants in ExAC

TNNT2 gene summary
TNNT2 variants in DCM, HCM

The table below lists the TNNT2 missense 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. 201330429 c.758A>G p.K253R missense 0.05073395●●●●●●
2. 201337340 c.83C>T p.A28V missense 0.00048677●●●●●●
3. 201328373 c.832C>T p.R278C missense 0.00042906●●●●●●
4. 201330455 c.732G>T p.E244D missense 0.00032946●●●●●●
5. 201334339 c.361G>A p.V121I missense 0.00017296●●●●●●
6. 201331068 c.662T>C p.I221T missense 0.00012358●●●●●●
7. 201328348 c.857G>A p.R286H missense 0.00007882●●●●●●
8. 201328352 c.853G>A p.G285R missense 0.00006641●●●●●●
9. 201335991 c.178A>G p.M60V missense 0.00004946●●●●●●
10. 201337317 c.106G>C p.A36P missense 0.00004945●●●●●●
11. 201333455 c.430C>T p.R144W missense 0.00003481●●●●●●
12. 201334772 c.230C>T p.P77L missense 0.00003396●●●●●●
13. 201337341 c.82G>A p.A28T missense 0.00003301●●●●●●
14. 201331078 c.652G>T p.V218L missense 0.00003295●●●●●●
15. 201328372 c.833G>A p.R278H missense 0.00002144●●●●●●
16. 201328790 c.782T>C p.I261T missense 0.00001914●●●●●●
17. 201328778 c.794G>A p.R265Q missense 0.00001813●●●●●●
18. 201333454 c.431G>A p.R144Q missense 0.00001743●●●●●●
19. 201328767 c.805A>G p.N269D missense 0.00001732●●●●●●
20. 201328764 c.808G>T p.D270Y missense 0.00001717●●●●●●
21. 201334784 c.218A>G p.N73S missense 0.00001707●●●●●●
22. 201334778 c.224T>G p.V75G missense 0.00001702●●●●●●
23. 201334767 c.235A>T p.I79F missense 0.00001695●●●●●●
24. 201337343 c.80C>G p.A27G missense 0.00001651●●●●●●
25. 201334417 c.283A>G p.M95V missense 0.00001648●●●●●●
26. 201331143 c.587G>A p.R196Q missense 0.00001648●●●●●●
27. 201331147 c.583G>A p.E195K missense 0.00001648●●●●●●
28. 201335969 c.200C>T p.P67L missense 0.00001648●●●●●●
29. 201337308 c.115G>A p.E39K missense 0.00001648●●●●●●
30. 201342343 c.40G>A p.E14K missense 0.00001647●●●●●●
31. 201330442 c.745G>A p.D249N missense 0.00001647●●●●●●
32. 201342373 c.10A>C p.I4L missense 0.00001647●●●●●●
33. 201330438 c.749T>A p.L250Q missense 0.00001647●●●●●●
34. 201328342 c.863A>G p.K288R missense 0.00001146●●●●●●
35. 201328348 c.857G>T p.R286L missense 0.00001126●●●●●●
36. 201328349 c.856C>T p.R286C missense 0.00001119●●●●●●
37. 201328370 c.835G>A p.G279R missense 0.00001072●●●●●●
38. 201333433 c.452G>A p.R151H missense 0.00000907●●●●●●
39. 201333436 c.449A>G p.N150S missense 0.00000897●●●●●●
40. 201334796 c.206C>T p.S69L missense 0.00000868●●●●●●
41. 201333460 c.425A>G p.N142S missense 0.00000865●●●●●●
42. 201333494 c.391C>T p.R131W missense 0.00000864●●●●●●
43. 201333484 c.401G>A p.R134Q missense 0.00000862●●●●●●
44. 201333467 c.418A>G p.I140V missense 0.00000862●●●●●●
45. 201333477 c.408G>T p.E136D missense 0.00000862●●●●●●
46. 201333479 c.406G>C p.E136Q missense 0.00000861●●●●●●
47. 201333479 c.406G>A p.E136K missense 0.00000861●●●●●●
48. 201334745 c.257A>C p.D86A missense 0.00000850●●●●●●
49. 201341163 c.59C>T p.A20V missense 0.00000828●●●●●●
50. 201337340 c.83C>A p.A28E missense 0.00000825●●●●●●
51. 201337343 c.80C>A p.A27E missense 0.00000825●●●●●●
52. 201337332 c.91G>A p.D31N missense 0.00000825●●●●●●
53. 201332466 c.528G>C p.K176N missense 0.00000824●●●●●●
54. 201332441 c.553G>T p.G185W missense 0.00000824●●●●●●
55. 201341155 c.67G>A p.E23K missense 0.00000824●●●●●●
56. 201330438 c.749T>C p.L250P missense 0.00000824●●●●●●
57. 201335970 c.199C>A p.P67T missense 0.00000824●●●●●●
58. 201334389 c.311C>T p.A104V missense 0.00000824●●●●●●
59. 201330487 c.700A>G p.K234E missense 0.00000824●●●●●●
60. 201332471 c.523A>C p.K175Q missense 0.00000824●●●●●●
61. 201331101 c.629A>T p.K210M missense 0.00000824●●●●●●
62. 201334416 c.284T>C p.M95T missense 0.00000824●●●●●●
63. 201332506 c.488A>G p.E163G missense 0.00000824●●●●●●
64. 201330453 c.734C>T p.A245V missense 0.00000824●●●●●●
65. 201336904 c.164C>A p.A55D missense 0.00000824●●●●●●
66. 201334326 c.374A>G p.D125G missense 0.00000824●●●●●●
67. 201332447 c.547C>T p.H183Y missense 0.00000824●●●●●●
68. 201337322 c.101C>T p.A34V missense 0.00000824●●●●●●
69. 201332527 c.467G>A p.R156K missense 0.00000824●●●●●●
70. 201342349 c.34G>A p.E12K missense 0.00000824●●●●●●
71. 201336918 c.150G>T p.E50D missense 0.00000824●●●●●●
72. 201334327 c.373G>A p.D125N missense 0.00000824●●●●●●
73. 201331090 c.640G>A p.E214K missense 0.00000824●●●●●●
74. 201332448 c.546G>A p.M182I missense 0.00000824●●●●●●
75. 201336923 c.145G>C p.E49Q missense 0.00000824●●●●●●
76. 201334426 c.274C>T p.R92W missense 0.00000824●●●●●●
77. 201342379 c.4T>C p.S2P missense 0.00000824●●●●●●
78. 201334342 c.358C>G p.L120V missense 0.00000824●●●●●●

* 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.