TNNT2 protein-altering variants in ExAC


The table below lists the TNNT2 protein-altering variants found in the ExAC population database with a mean allelic frequency (MAF) less than 0.0001, classified for this study as a rare variant. 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. 201328348 c.857G>A p.R286H missense 0.00007882
2. 201328352 c.853G>A p.G285R missense 0.00006641
3. 201335991 c.178A>G p.M60V missense 0.00004946
4. 201337317 c.106G>C p.A36P missense 0.00004945
5. 201333455 c.430C>T p.R144W missense 0.00003481
6. 201333464 c.421delC frameshift 0.00003455
7. 201334772 c.230C>T p.P77L missense 0.00003396
8. 201337341 c.82G>A p.A28T missense 0.00003301
9. 201331078 c.652G>T p.V218L missense 0.00003295
10. 201328372 c.833G>A p.R278H missense 0.00002144
11. 201328790 c.782T>C p.I261T missense 0.00001914
12. 201328778 c.794G>A p.R265Q missense 0.00001813
13. 201333454 c.431G>A p.R144Q missense 0.00001743
14. 201328767 c.805A>G p.N269D missense 0.00001732
15. 201328764 c.808G>T p.D270Y missense 0.00001717
16. 201334784 c.218A>G p.N73S missense 0.00001707
17. 201331523 c.571-1G>A essential splice site 0.00001707
18. 201334778 c.224T>G p.V75G missense 0.00001702
19. 201334751 c.251dupG p.Val85SerfsTer4 frameshift 0.00001697
20. 201334767 c.235A>T p.I79F missense 0.00001695
21. 201337343 c.80C>G p.A27G missense 0.00001651
22. 201331143 c.587G>A p.R196Q missense 0.00001648
23. 201335969 c.200C>T p.P67L missense 0.00001648
24. 201331147 c.583G>A p.E195K missense 0.00001648
25. 201337308 c.115G>A p.E39K missense 0.00001648
26. 201334417 c.283A>G p.M95V missense 0.00001648
27. 201342373 c.10A>C p.I4L missense 0.00001647
28. 201332519 c.475C>T p.R159X nonsense 0.00001647
29. 201330406 c.780+1G>A essential splice site 0.00001647
30. 201330438 c.749T>A p.L250Q missense 0.00001647
31. 201342343 c.40G>A p.E14K missense 0.00001647
32. 201330442 c.745G>A p.D249N missense 0.00001647
33. 201328342 c.863A>G p.K288R missense 0.00001146
34. 201328345 c.860G>A p.W287X nonsense 0.00001137
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. 201333477 c.408G>T p.E136D missense 0.00000862
44. 201333484 c.401G>A p.R134Q missense 0.00000862
45. 201333467 c.418A>G p.I140V missense 0.00000862
46. 201333479 c.406G>A p.E136K missense 0.00000861
47. 201333479 c.406G>C p.E136Q missense 0.00000861
48. 201334745 c.257A>C p.D86A missense 0.00000850
49. 201341163 c.59C>T p.A20V missense 0.00000828
50. 201337332 c.91G>A p.D31N missense 0.00000825
51. 201337343 c.80C>A p.A27E missense 0.00000825
52. 201337340 c.83C>A p.A28E missense 0.00000825
53. 201330487 c.700A>G p.K234E missense 0.00000824
54. 201342349 c.34G>A p.E12K missense 0.00000824
55. 201332471 c.523A>C p.K175Q missense 0.00000824
56. 201336918 c.150G>T p.E50D missense 0.00000824
57. 201334327 c.373G>A p.D125N missense 0.00000824
58. 201332506 c.488A>G p.E163G missense 0.00000824
59. 201332447 c.547C>T p.H183Y missense 0.00000824
60. 201334426 c.274C>T p.R92W missense 0.00000824
61. 201335965 c.203+1G>A essential splice site 0.00000824
62. 201342379 c.4T>C p.S2P missense 0.00000824
63. 201336923 c.145G>C p.E49Q missense 0.00000824
64. 201334342 c.358C>G p.L120V missense 0.00000824
65. 201330438 c.749T>C p.L250P missense 0.00000824
66. 201341155 c.67G>A p.E23K missense 0.00000824
67. 201335970 c.199C>A p.P67T missense 0.00000824
68. 201334389 c.311C>T p.A104V missense 0.00000824
69. 201331090 c.640G>A p.E214K missense 0.00000824
70. 201332448 c.546G>A p.M182I missense 0.00000824
71. 201336921 c.147_149delAGA p.Glu51del inframe 0.00000824
72. 201331146 c.584_585delAG p.Glu195AlafsTer9 frameshift 0.00000824
73. 201334416 c.284T>C p.M95T missense 0.00000824
74. 201332522 c.472C>T p.R158X nonsense 0.00000824
75. 201330453 c.734C>T p.A245V missense 0.00000824
76. 201336904 c.164C>A p.A55D missense 0.00000824
77. 201331101 c.629A>T p.K210M missense 0.00000824
78. 201334326 c.374A>G p.D125G missense 0.00000824
79. 201332466 c.528G>C p.K176N missense 0.00000824
80. 201332441 c.553G>T p.G185W missense 0.00000824
81. 201334318 c.381+1G>A essential splice site 0.00000824
82. 201337322 c.101C>T p.A34V missense 0.00000824
83. 201332527 c.467G>A p.R156K 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.