TNNT2 variants in ExAC

TNNT2 gene summary
TNNT2 variants in DCM, HCM

The table below lists the TNNT2 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. 201334731 c.264+7G>A splice site 0.00317159●●●●●●
3. 201336010 c.170-11A>G splice site 0.00063552●●●●●●
4. 201337340 c.83C>T p.A28V missense 0.00048677●●●●●●
5. 201328373 c.832C>T p.R278C missense 0.00042906●●●●●●
6. 201330455 c.732G>T p.E244D missense 0.00032946●●●●●●
7. 0 c.-15+6G>C splice site 0.00027866●●●●●●
8. 201341266 c.52+7G>A splice site 0.00018120●●●●●●
9. 201334339 c.361G>A p.V121I missense 0.00017296●●●●●●
10. 201330501 c.690-4G>T splice site 0.00015650●●●●●●
11. 201331068 c.662T>C p.I221T missense 0.00012358●●●●●●
12. 201333509 c.382-6_382-4delCCT splice site 0.00011345●●●●●●
13. 201331529 c.571-7G>A splice site 0.00009381●●●●●●
14. 0 c.690-13_690-11delCTT splice site 0.00009061●●●●●●
15. 201331530 c.571-8C>T splice site 0.00008532●●●●●●
16. 201328348 c.857G>A p.R286H missense 0.00007882●●●●●●
17. 201328352 c.853G>A p.G285R missense 0.00006641●●●●●●
18. 201330504 c.690-7C>T splice site 0.00005766●●●●●●
19. 201335991 c.178A>G p.M60V missense 0.00004946●●●●●●
20. 201337317 c.106G>C p.A36P missense 0.00004945●●●●●●
21. 201331528 c.571-6G>A splice site 0.00004263●●●●●●
22. 201334319 c.381C>T splice site 0.00004118●●●●●●
23. 201333455 c.430C>T p.R144W missense 0.00003481●●●●●●
24. 201333464 c.421delC frameshift 0.00003455●●●●●●
25. 201334772 c.230C>T p.P77L missense 0.00003396●●●●●●
26. 201337341 c.82G>A p.A28T missense 0.00003301●●●●●●
27. 201331078 c.652G>T p.V218L missense 0.00003295●●●●●●
28. 201328372 c.833G>A p.R278H missense 0.00002144●●●●●●
29. 201328796 c.781-5T>C splice site 0.00001960●●●●●●
30. 201328790 c.782T>C p.I261T missense 0.00001914●●●●●●
31. 201328789 c.783C>T splice site 0.00001910●●●●●●
32. 201328778 c.794G>A p.R265Q missense 0.00001813●●●●●●
33. 201333507 c.382-4T>G splice site 0.00001749●●●●●●
34. 201333454 c.431G>A p.R144Q missense 0.00001743●●●●●●
35. 201328767 c.805A>G p.N269D missense 0.00001732●●●●●●
36. 201328764 c.808G>T p.D270Y missense 0.00001717●●●●●●
37. 201334784 c.218A>G p.N73S missense 0.00001707●●●●●●
38. 201331523 c.571-1G>A essential splice site 0.00001707●●●●●●
39. 201334778 c.224T>G p.V75G missense 0.00001702●●●●●●
40. 201334751 c.251dupG p.Val85SerfsTer4 frameshift 0.00001697●●●●●●
41. 201334767 c.235A>T p.I79F missense 0.00001695●●●●●●
42. 201337343 c.80C>G p.A27G missense 0.00001651●●●●●●
43. 201341146 c.67+9C>T splice site 0.00001649●●●●●●
44. 201334417 c.283A>G p.M95V missense 0.00001648●●●●●●
45. 201335969 c.200C>T p.P67L missense 0.00001648●●●●●●
46. 201331147 c.583G>A p.E195K missense 0.00001648●●●●●●
47. 201331143 c.587G>A p.R196Q missense 0.00001648●●●●●●
48. 201337308 c.115G>A p.E39K missense 0.00001648●●●●●●
49. 201330438 c.749T>A p.L250Q missense 0.00001647●●●●●●
50. 201342343 c.40G>A p.E14K missense 0.00001647●●●●●●
51. 201330406 c.780+1G>A essential splice site 0.00001647●●●●●●
52. 201330442 c.745G>A p.D249N missense 0.00001647●●●●●●
53. 201342373 c.10A>C p.I4L missense 0.00001647●●●●●●
54. 201330401 c.780+6C>T splice site 0.00001647●●●●●●
55. 201332519 c.475C>T p.R159X nonsense 0.00001647●●●●●●
56. 201330502 c.690-5T>G splice site 0.00001647●●●●●●
57. 201328342 c.863A>G p.K288R missense 0.00001146●●●●●●
58. 201328345 c.860G>A p.W287X nonsense 0.00001137●●●●●●
59. 201328348 c.857G>T p.R286L missense 0.00001126●●●●●●
60. 201328349 c.856C>T p.R286C missense 0.00001119●●●●●●
61. 201328386 c.822-3C>T splice site 0.00001079●●●●●●
62. 201328391 c.822-8C>T splice site 0.00001079●●●●●●
63. 201328370 c.835G>A p.G279R missense 0.00001072●●●●●●
64. 201333433 c.452G>A p.R151H missense 0.00000907●●●●●●
65. 201333436 c.449A>G p.N150S missense 0.00000897●●●●●●
66. 201333506 c.382-3T>C splice site 0.00000873●●●●●●
67. 201334796 c.206C>T p.S69L missense 0.00000868●●●●●●
68. 201333460 c.425A>G p.N142S missense 0.00000865●●●●●●
69. 201333494 c.391C>T p.R131W missense 0.00000864●●●●●●
70. 201333477 c.408G>T p.E136D missense 0.00000862●●●●●●
71. 201333467 c.418A>G p.I140V missense 0.00000862●●●●●●
72. 201333484 c.401G>A p.R134Q missense 0.00000862●●●●●●
73. 201333479 c.406G>C p.E136Q missense 0.00000861●●●●●●
74. 201333479 c.406G>A p.E136K missense 0.00000861●●●●●●
75. 201331506 c.579+8C>A splice site 0.00000859●●●●●●
76. 201334732 c.264+6C>T splice site 0.00000854●●●●●●
77. 201334733 c.264+5G>A splice site 0.00000853●●●●●●
78. 201334745 c.257A>C p.D86A missense 0.00000850●●●●●●
79. 201341163 c.59C>T p.A20V missense 0.00000828●●●●●●
80. 201337364 c.68-9C>A splice site 0.00000828●●●●●●
81. 201337358 c.68-3C>T splice site 0.00000827●●●●●●
82. 201337359 c.68-4C>T splice site 0.00000827●●●●●●
83. 201337340 c.83C>A p.A28E missense 0.00000825●●●●●●
84. 201336008 c.170-9C>T splice site 0.00000825●●●●●●
85. 201337343 c.80C>A p.A27E missense 0.00000825●●●●●●
86. 201336003 c.170-4C>G splice site 0.00000825●●●●●●
87. 201337332 c.91G>A p.D31N missense 0.00000825●●●●●●
88. 201332448 c.546G>A p.M182I missense 0.00000824●●●●●●
89. 201336921 c.147_149delAGA p.Glu51del inframe 0.00000824●●●●●●
90. 201330453 c.734C>T p.A245V missense 0.00000824●●●●●●
91. 201334433 c.267C>T splice site 0.00000824●●●●●●
92. 201332522 c.472C>T p.R158X nonsense 0.00000824●●●●●●
93. 201331154 c.580-4C>A splice site 0.00000824●●●●●●
94. 201331090 c.640G>A p.E214K missense 0.00000824●●●●●●
95. 201331146 c.584_585delAG p.Glu195AlafsTer9 frameshift 0.00000824●●●●●●
96. 201334389 c.311C>T p.A104V missense 0.00000824●●●●●●
97. 201336904 c.164C>A p.A55D missense 0.00000824●●●●●●
98. 201334326 c.374A>G p.D125G missense 0.00000824●●●●●●
99. 201342337 c.41+5G>A splice site 0.00000824●●●●●●
100. 201334416 c.284T>C p.M95T missense 0.00000824●●●●●●
101. 201332420 c.570+4G>A splice site 0.00000824●●●●●●
102. 201332466 c.528G>C p.K176N missense 0.00000824●●●●●●
103. 201336923 c.145G>C p.E49Q missense 0.00000824●●●●●●
104. 201330500 c.690-3C>T splice site 0.00000824●●●●●●
105. 201332441 c.553G>T p.G185W missense 0.00000824●●●●●●
106. 201330487 c.700A>G p.K234E missense 0.00000824●●●●●●
107. 201330503 c.690-6G>A splice site 0.00000824●●●●●●
108. 201334318 c.381+1G>A essential splice site 0.00000824●●●●●●
109. 201337322 c.101C>T p.A34V missense 0.00000824●●●●●●
110. 201336918 c.150G>T p.E50D missense 0.00000824●●●●●●
111. 201332420 c.570+4G>C splice site 0.00000824●●●●●●
112. 201334327 c.373G>A p.D125N missense 0.00000824●●●●●●
113. 201330399 c.780+8G>A splice site 0.00000824●●●●●●
114. 201332539 c.460-5A>T splice site 0.00000824●●●●●●
115. 201332506 c.488A>G p.E163G missense 0.00000824●●●●●●
116. 201332527 c.467G>A p.R156K missense 0.00000824●●●●●●
117. 201342349 c.34G>A p.E12K missense 0.00000824●●●●●●
118. 201331101 c.629A>T p.K210M missense 0.00000824●●●●●●
119. 201332447 c.547C>T p.H183Y missense 0.00000824●●●●●●
120. 201335965 c.203+1G>A essential splice site 0.00000824●●●●●●
121. 201332471 c.523A>C p.K175Q missense 0.00000824●●●●●●
122. 201330438 c.749T>C p.L250P missense 0.00000824●●●●●●
123. 201334342 c.358C>G p.L120V missense 0.00000824●●●●●●
124. 201334313 c.381+6T>A splice site 0.00000824●●●●●●
125. 201342379 c.4T>C p.S2P missense 0.00000824●●●●●●
126. 201341155 c.67G>A p.E23K missense 0.00000824●●●●●●
127. 201334426 c.274C>T p.R92W missense 0.00000824●●●●●●
128. 201335970 c.199C>A p.P67T missense 0.00000824●●●●●●
129. 201341270 c.52+3A>C splice site 0.00000824●●●●●●
130. 201336937 c.134-3delT splice site 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.