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. 201331147 c.583G>A p.E195K missense 0.00001648●●●●●●
45. 201331143 c.587G>A p.R196Q missense 0.00001648●●●●●●
46. 201334417 c.283A>G p.M95V missense 0.00001648●●●●●●
47. 201335969 c.200C>T p.P67L missense 0.00001648●●●●●●
48. 201337308 c.115G>A p.E39K missense 0.00001648●●●●●●
49. 201330442 c.745G>A p.D249N missense 0.00001647●●●●●●
50. 201342373 c.10A>C p.I4L missense 0.00001647●●●●●●
51. 201330406 c.780+1G>A essential splice site 0.00001647●●●●●●
52. 201330438 c.749T>A p.L250Q missense 0.00001647●●●●●●
53. 201332519 c.475C>T p.R159X nonsense 0.00001647●●●●●●
54. 201342343 c.40G>A p.E14K missense 0.00001647●●●●●●
55. 201330401 c.780+6C>T splice site 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>A p.E136K missense 0.00000861●●●●●●
74. 201333479 c.406G>C p.E136Q 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. 201337332 c.91G>A p.D31N missense 0.00000825●●●●●●
86. 201337343 c.80C>A p.A27E missense 0.00000825●●●●●●
87. 201336003 c.170-4C>G splice site 0.00000825●●●●●●
88. 201334426 c.274C>T p.R92W missense 0.00000824●●●●●●
89. 201334389 c.311C>T p.A104V missense 0.00000824●●●●●●
90. 201330503 c.690-6G>A splice site 0.00000824●●●●●●
91. 201331101 c.629A>T p.K210M missense 0.00000824●●●●●●
92. 201330399 c.780+8G>A splice site 0.00000824●●●●●●
93. 201330438 c.749T>C p.L250P missense 0.00000824●●●●●●
94. 201330453 c.734C>T p.A245V missense 0.00000824●●●●●●
95. 201330500 c.690-3C>T splice site 0.00000824●●●●●●
96. 201332420 c.570+4G>C splice site 0.00000824●●●●●●
97. 201332471 c.523A>C p.K175Q missense 0.00000824●●●●●●
98. 201336923 c.145G>C p.E49Q missense 0.00000824●●●●●●
99. 201330487 c.700A>G p.K234E missense 0.00000824●●●●●●
100. 201331090 c.640G>A p.E214K missense 0.00000824●●●●●●
101. 201332441 c.553G>T p.G185W missense 0.00000824●●●●●●
102. 201332447 c.547C>T p.H183Y missense 0.00000824●●●●●●
103. 201332448 c.546G>A p.M182I missense 0.00000824●●●●●●
104. 201332466 c.528G>C p.K176N missense 0.00000824●●●●●●
105. 201332506 c.488A>G p.E163G missense 0.00000824●●●●●●
106. 201332522 c.472C>T p.R158X nonsense 0.00000824●●●●●●
107. 201332527 c.467G>A p.R156K missense 0.00000824●●●●●●
108. 201334326 c.374A>G p.D125G missense 0.00000824●●●●●●
109. 201334327 c.373G>A p.D125N missense 0.00000824●●●●●●
110. 201334342 c.358C>G p.L120V missense 0.00000824●●●●●●
111. 201334416 c.284T>C p.M95T missense 0.00000824●●●●●●
112. 201335970 c.199C>A p.P67T missense 0.00000824●●●●●●
113. 201336904 c.164C>A p.A55D missense 0.00000824●●●●●●
114. 201336918 c.150G>T p.E50D missense 0.00000824●●●●●●
115. 201337322 c.101C>T p.A34V missense 0.00000824●●●●●●
116. 201341155 c.67G>A p.E23K missense 0.00000824●●●●●●
117. 201342349 c.34G>A p.E12K missense 0.00000824●●●●●●
118. 201342379 c.4T>C p.S2P missense 0.00000824●●●●●●
119. 201331146 c.584_585delAG p.Glu195AlafsTer9 frameshift 0.00000824●●●●●●
120. 201334318 c.381+1G>A essential splice site 0.00000824●●●●●●
121. 201335965 c.203+1G>A essential splice site 0.00000824●●●●●●
122. 201336921 c.147_149delAGA p.Glu51del inframe 0.00000824●●●●●●
123. 201331154 c.580-4C>A splice site 0.00000824●●●●●●
124. 201332420 c.570+4G>A splice site 0.00000824●●●●●●
125. 201332539 c.460-5A>T splice site 0.00000824●●●●●●
126. 201334313 c.381+6T>A splice site 0.00000824●●●●●●
127. 201334433 c.267C>T splice site 0.00000824●●●●●●
128. 201336937 c.134-3delT splice site 0.00000824●●●●●●
129. 201341270 c.52+3A>C splice site 0.00000824●●●●●●
130. 201342337 c.41+5G>A 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.