TNNT2 protein-altering variants in ExAC

TNNT2 gene summary
TNNT2 variants in DCM, HCM

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 frequency▼Populations*
1. 201334772 c.230C>T p.P77L missense 0.00003396●●●●●●
2. 201334745 c.257A>C p.D86A missense 0.00000850●●●●●●
3. 201334426 c.274C>T p.R92W missense 0.00000824●●●●●●
4. 201334389 c.311C>T p.A104V missense 0.00000824●●●●●●
5. 201333494 c.391C>T p.R131W missense 0.00000864●●●●●●
6. 201333479 c.406G>A p.E136K missense 0.00000861●●●●●●
7. 201333455 c.430C>T p.R144W missense 0.00003481●●●●●●
8. 201328349 c.856C>T p.R286C missense 0.00001119●●●●●●
9. 201328348 c.857G>A p.R286H missense 0.00007882●●●●●●
10. 201328352 c.853G>A p.G285R missense 0.00006641●●●●●●
11. 201330442 c.745G>A p.D249N missense 0.00001647●●●●●●
12. 201331147 c.583G>A p.E195K missense 0.00001648●●●●●●
13. 201333477 c.408G>T p.E136D missense 0.00000862●●●●●●
14. 201335991 c.178A>G p.M60V missense 0.00004946●●●●●●
15. 201342373 c.10A>C p.I4L missense 0.00001647●●●●●●
16. 201328372 c.833G>A p.R278H missense 0.00002144●●●●●●
17. 201331101 c.629A>T p.K210M missense 0.00000824●●●●●●
18. 201334784 c.218A>G p.N73S missense 0.00001707●●●●●●
19. 201328348 c.857G>T p.R286L missense 0.00001126●●●●●●
20. 201333433 c.452G>A p.R151H missense 0.00000907●●●●●●
21. 201337340 c.83C>A p.A28E missense 0.00000825●●●●●●
22. 201328790 c.782T>C p.I261T missense 0.00001914●●●●●●
23. 201330438 c.749T>C p.L250P missense 0.00000824●●●●●●
24. 201330453 c.734C>T p.A245V missense 0.00000824●●●●●●
25. 201331143 c.587G>A p.R196Q missense 0.00001648●●●●●●
26. 201333454 c.431G>A p.R144Q missense 0.00001743●●●●●●
27. 201332471 c.523A>C p.K175Q missense 0.00000824●●●●●●
28. 201336923 c.145G>C p.E49Q missense 0.00000824●●●●●●
29. 201341163 c.59C>T p.A20V missense 0.00000828●●●●●●
30. 201328342 c.863A>G p.K288R missense 0.00001146●●●●●●
31. 201328370 c.835G>A p.G279R missense 0.00001072●●●●●●
32. 201328764 c.808G>T p.D270Y missense 0.00001717●●●●●●
33. 201328767 c.805A>G p.N269D missense 0.00001732●●●●●●
34. 201328778 c.794G>A p.R265Q missense 0.00001813●●●●●●
35. 201330438 c.749T>A p.L250Q missense 0.00001647●●●●●●
36. 201330487 c.700A>G p.K234E missense 0.00000824●●●●●●
37. 201331078 c.652G>T p.V218L missense 0.00003295●●●●●●
38. 201331090 c.640G>A p.E214K missense 0.00000824●●●●●●
39. 201332441 c.553G>T p.G185W missense 0.00000824●●●●●●
40. 201332447 c.547C>T p.H183Y missense 0.00000824●●●●●●
41. 201332448 c.546G>A p.M182I missense 0.00000824●●●●●●
42. 201332466 c.528G>C p.K176N missense 0.00000824●●●●●●
43. 201332506 c.488A>G p.E163G missense 0.00000824●●●●●●
44. 201332527 c.467G>A p.R156K missense 0.00000824●●●●●●
45. 201333436 c.449A>G p.N150S missense 0.00000897●●●●●●
46. 201333460 c.425A>G p.N142S missense 0.00000865●●●●●●
47. 201333467 c.418A>G p.I140V missense 0.00000862●●●●●●
48. 201333479 c.406G>C p.E136Q missense 0.00000861●●●●●●
49. 201333484 c.401G>A p.R134Q missense 0.00000862●●●●●●
50. 201334326 c.374A>G p.D125G missense 0.00000824●●●●●●
51. 201334327 c.373G>A p.D125N missense 0.00000824●●●●●●
52. 201334342 c.358C>G p.L120V missense 0.00000824●●●●●●
53. 201334416 c.284T>C p.M95T missense 0.00000824●●●●●●
54. 201334417 c.283A>G p.M95V missense 0.00001648●●●●●●
55. 201334767 c.235A>T p.I79F missense 0.00001695●●●●●●
56. 201334778 c.224T>G p.V75G missense 0.00001702●●●●●●
57. 201334796 c.206C>T p.S69L missense 0.00000868●●●●●●
58. 201335969 c.200C>T p.P67L missense 0.00001648●●●●●●
59. 201335970 c.199C>A p.P67T missense 0.00000824●●●●●●
60. 201336904 c.164C>A p.A55D missense 0.00000824●●●●●●
61. 201336918 c.150G>T p.E50D missense 0.00000824●●●●●●
62. 201337308 c.115G>A p.E39K missense 0.00001648●●●●●●
63. 201337317 c.106G>C p.A36P missense 0.00004945●●●●●●
64. 201337322 c.101C>T p.A34V missense 0.00000824●●●●●●
65. 201337332 c.91G>A p.D31N missense 0.00000825●●●●●●
66. 201337341 c.82G>A p.A28T missense 0.00003301●●●●●●
67. 201337343 c.80C>G p.A27G missense 0.00001651●●●●●●
68. 201337343 c.80C>A p.A27E missense 0.00000825●●●●●●
69. 201341155 c.67G>A p.E23K missense 0.00000824●●●●●●
70. 201342343 c.40G>A p.E14K missense 0.00001647●●●●●●
71. 201342349 c.34G>A p.E12K missense 0.00000824●●●●●●
72. 201342379 c.4T>C p.S2P missense 0.00000824●●●●●●
73. 201328345 c.860G>A p.W287X nonsense 0.00001137●●●●●●
74. 201332519 c.475C>T p.R159X nonsense 0.00001647●●●●●●
75. 201332522 c.472C>T p.R158X nonsense 0.00000824●●●●●●
76. 201330406 c.780+1G>A essential splice site 0.00001647●●●●●●
77. 201331523 c.571-1G>A essential splice site 0.00001707●●●●●●
78. 201334318 c.381+1G>A essential splice site 0.00000824●●●●●●
79. 201335965 c.203+1G>A essential splice site 0.00000824●●●●●●
80. 201333464 c.421delC frameshift 0.00003455●●●●●●
81. 201334751 c.251dupG p.Val85SerfsTer4 frameshift 0.00001697●●●●●●
82. 201331146 c.584_585delAG p.Glu195AlafsTer9 frameshift 0.00000824●●●●●●
83. 201336921 c.147_149delAGA p.Glu51del inframe 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.