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. 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. 201331523 c.571-1G>A essential splice site 0.00001707●●●●●●
17. 201334784 c.218A>G p.N73S missense 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. 201337308 c.115G>A p.E39K missense 0.00001648●●●●●●
23. 201331147 c.583G>A p.E195K missense 0.00001648●●●●●●
24. 201334417 c.283A>G p.M95V missense 0.00001648●●●●●●
25. 201331143 c.587G>A p.R196Q missense 0.00001648●●●●●●
26. 201335969 c.200C>T p.P67L missense 0.00001648●●●●●●
27. 201330442 c.745G>A p.D249N missense 0.00001647●●●●●●
28. 201332519 c.475C>T p.R159X nonsense 0.00001647●●●●●●
29. 201342373 c.10A>C p.I4L missense 0.00001647●●●●●●
30. 201330406 c.780+1G>A essential splice site 0.00001647●●●●●●
31. 201330438 c.749T>A p.L250Q missense 0.00001647●●●●●●
32. 201342343 c.40G>A p.E14K 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. 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>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. 201337340 c.83C>A p.A28E missense 0.00000825●●●●●●
51. 201337332 c.91G>A p.D31N missense 0.00000825●●●●●●
52. 201337343 c.80C>A p.A27E missense 0.00000825●●●●●●
53. 201335965 c.203+1G>A essential splice site 0.00000824●●●●●●
54. 201342379 c.4T>C p.S2P missense 0.00000824●●●●●●
55. 201336923 c.145G>C p.E49Q missense 0.00000824●●●●●●
56. 201334342 c.358C>G p.L120V missense 0.00000824●●●●●●
57. 201330438 c.749T>C p.L250P missense 0.00000824●●●●●●
58. 201341155 c.67G>A p.E23K missense 0.00000824●●●●●●
59. 201335970 c.199C>A p.P67T missense 0.00000824●●●●●●
60. 201332448 c.546G>A p.M182I missense 0.00000824●●●●●●
61. 201331090 c.640G>A p.E214K missense 0.00000824●●●●●●
62. 201336921 c.147_149delAGA p.Glu51del inframe 0.00000824●●●●●●
63. 201331146 c.584_585delAG p.Glu195AlafsTer9 frameshift 0.00000824●●●●●●
64. 201334416 c.284T>C p.M95T missense 0.00000824●●●●●●
65. 201332522 c.472C>T p.R158X nonsense 0.00000824●●●●●●
66. 201334426 c.274C>T p.R92W missense 0.00000824●●●●●●
67. 201330453 c.734C>T p.A245V missense 0.00000824●●●●●●
68. 201336904 c.164C>A p.A55D missense 0.00000824●●●●●●
69. 201331101 c.629A>T p.K210M missense 0.00000824●●●●●●
70. 201334326 c.374A>G p.D125G missense 0.00000824●●●●●●
71. 201332466 c.528G>C p.K176N missense 0.00000824●●●●●●
72. 201332441 c.553G>T p.G185W missense 0.00000824●●●●●●
73. 201334318 c.381+1G>A essential splice site 0.00000824●●●●●●
74. 201337322 c.101C>T p.A34V missense 0.00000824●●●●●●
75. 201332527 c.467G>A p.R156K missense 0.00000824●●●●●●
76. 201334389 c.311C>T p.A104V missense 0.00000824●●●●●●
77. 201330487 c.700A>G p.K234E missense 0.00000824●●●●●●
78. 201342349 c.34G>A p.E12K missense 0.00000824●●●●●●
79. 201332471 c.523A>C p.K175Q missense 0.00000824●●●●●●
80. 201336918 c.150G>T p.E50D missense 0.00000824●●●●●●
81. 201334327 c.373G>A p.D125N missense 0.00000824●●●●●●
82. 201332506 c.488A>G p.E163G missense 0.00000824●●●●●●
83. 201332447 c.547C>T p.H183Y 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.