TBX20 variants in ExAC

TBX20 gene summary
TBX20 variants in

The table below lists the TBX20 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. 35288464 c.381-11_381-10delCT splice site 0.12239058●●●●●●
2. 0 c.381-12_381-11insCT splice site 0.00264822●●●●●●
3. 35288464 c.381-11_381-8delCTCT splice site 0.00098945●●●●●●
4. 35289756 c.187G>A p.A63T missense 0.00073778●●●●●●
5. 35244154 c.931C>T p.R311C missense 0.00023421●●●●●●
6. 35242065 c.1321G>A p.A441T missense 0.00020866●●●●●●
7. 35242077 c.1309C>T p.R437C missense 0.00018938●●●●●●
8. 35242076 c.1310G>A p.R437H missense 0.00017462●●●●●●
9. 35242076 c.1310G>T p.R437L missense 0.00017462●●●●●●
10. 35293222 c.10A>T p.T4S missense 0.00015847●●●●●●
11. 35242055 c.1331C>T p.T444M missense 0.00012829●●●●●●
12. 35284677 c.546-8T>A splice site 0.00007483●●●●●●
13. 35289593 c.350G>T p.G117V missense 0.00006847●●●●●●
14. 35244141 c.944G>A p.R315H missense 0.00006672●●●●●●
15. 35288377 c.457G>A p.V153I missense 0.00006591●●●●●●
16. 35244084 c.1001G>A p.R334Q missense 0.00006110●●●●●●
17. 35293146 c.86C>G p.S29C missense 0.00005467●●●●●●
18. 35244091 c.994C>T p.P332S missense 0.00004269●●●●●●
19. 35288416 c.418G>A p.V140M missense 0.00004119●●●●●●
20. 0 c.381-12_381-11insCTCT splice site 0.00002910●●●●●●
21. 35293147 c.85T>C p.S29P missense 0.00002721●●●●●●
22. 35293152 c.80G>A p.G27D missense 0.00002658●●●●●●
23. 35288301 c.533C>T p.P178L missense 0.00002609●●●●●●
24. 35289579 c.364A>G p.I122V missense 0.00002605●●●●●●
25. 35289719 c.224C>T p.P75L missense 0.00002540●●●●●●
26. 35289740 c.203G>T p.G68V missense 0.00002522●●●●●●
27. 35284616 c.599T>C p.M200T missense 0.00002494●●●●●●
28. 35288285 c.545+4C>T splice site 0.00002476●●●●●●
29. 35288439 c.395C>T p.T132I missense 0.00002472●●●●●●
30. 35288378 c.456C>G p.I152M missense 0.00002471●●●●●●
31. 35244076 c.1003+6delG splice site 0.00001820●●●●●●
32. 35242157 c.1229G>A p.G410D missense 0.00001780●●●●●●
33. 35289569 c.374C>T p.S125L missense 0.00001750●●●●●●
34. 35242260 c.1126G>T p.A376S missense 0.00001731●●●●●●
35. 35288304 c.530C>T p.P177L missense 0.00001717●●●●●●
36. 35289820 c.128-5T>G splice site 0.00001684●●●●●●
37. 35288320 c.514G>T p.A172S missense 0.00001672●●●●●●
38. 35289622 c.321G>C p.K107N missense 0.00001657●●●●●●
39. 35288364 c.470A>G p.N157S missense 0.00001648●●●●●●
40. 35288365 c.469A>G p.N157D missense 0.00001648●●●●●●
41. 35242083 c.1303G>A p.G435R missense 0.00001647●●●●●●
42. 35242089 c.1297A>G p.I433V missense 0.00001585●●●●●●
43. 35288459 c.381-6T>C splice site 0.00001276●●●●●●
44. 35242128 c.1258C>T p.R420X nonsense 0.00001211●●●●●●
45. 35293113 c.119A>G p.K40R missense 0.00001105●●●●●●
46. 35293117 c.115A>G p.I39V missense 0.00001077●●●●●●
47. 35293131 c.101C>A p.A34E missense 0.00000983●●●●●●
48. 35288464 c.381-11_381-6delCTCTCT splice site 0.00000970●●●●●●
49. 35284668 c.547C>A p.L183I missense 0.00000969●●●●●●
50. 35284668 c.547dupC p.Leu183ProfsTer12 frameshift 0.00000968●●●●●●
51. 35244075 c.1003+7T>C splice site 0.00000910●●●●●●
52. 35244076 c.1003+6G>C splice site 0.00000906●●●●●●
53. 35242154 c.1232C>G p.P411R missense 0.00000903●●●●●●
54. 35244198 c.891-4C>G splice site 0.00000894●●●●●●
55. 35289566 c.377G>T p.G126V missense 0.00000879●●●●●●
56. 35244193 c.892G>A p.E298K missense 0.00000879●●●●●●
57. 35242164 c.1222G>A p.G408R missense 0.00000862●●●●●●
58. 35293158 c.74C>G p.S25W missense 0.00000861●●●●●●
59. 35293160 c.72G>A p.M24I missense 0.00000857●●●●●●
60. 35293162 c.70A>C p.M24L missense 0.00000854●●●●●●
61. 35244093 c.992C>T p.T331I missense 0.00000851●●●●●●
62. 35271108 c.890+8G>C splice site 0.00000849●●●●●●
63. 35284638 c.577G>A p.G193S missense 0.00000847●●●●●●
64. 35289728 c.215G>A p.G72D missense 0.00000843●●●●●●
65. 35293180 c.52T>G p.F18V missense 0.00000841●●●●●●
66. 35289739 c.204_206delTGG p.Gly70del inframe 0.00000841●●●●●●
67. 35289810 c.133T>C p.F45L missense 0.00000840●●●●●●
68. 35289747 c.196dupG p.Glu66GlyfsTer18 frameshift 0.00000840●●●●●●
69. 35289609 c.334A>G p.K112E missense 0.00000838●●●●●●
70. 35244109 c.976G>A p.D326N missense 0.00000838●●●●●●
71. 35271198 c.814-6C>T splice site 0.00000838●●●●●●
72. 35289797 c.146C>T p.S49L missense 0.00000838●●●●●●
73. 35271115 c.890+1G>A essential splice site 0.00000838●●●●●●
74. 35289768 c.175A>G p.T59A missense 0.00000837●●●●●●
75. 35242182 c.1204A>G p.I402V missense 0.00000837●●●●●●
76. 35289788 c.155C>T p.A52V missense 0.00000837●●●●●●
77. 35244157 c.928G>A p.A310T missense 0.00000837●●●●●●
78. 35242185 c.1201G>A p.A401T missense 0.00000835●●●●●●
79. 35242187 c.1199C>T p.S400L missense 0.00000834●●●●●●
80. 35244136 c.949T>G p.Y317D missense 0.00000834●●●●●●
81. 35284622 c.593A>G p.K198R missense 0.00000834●●●●●●
82. 35293221 c.11C>A p.T4K missense 0.00000834●●●●●●
83. 35244133 c.952G>A p.G318R missense 0.00000834●●●●●●
84. 35293228 c.4G>A p.E2K missense 0.00000834●●●●●●
85. 35244144 c.941T>A p.I314N missense 0.00000834●●●●●●
86. 35244134 c.951C>G p.Y317X nonsense 0.00000834●●●●●●
87. 35293218 c.14C>G p.A5G missense 0.00000833●●●●●●
88. 35293208 c.24G>C p.K8N missense 0.00000833●●●●●●
89. 35293209 c.23A>G p.K8R missense 0.00000833●●●●●●
90. 35280480 c.813+11A>G splice site 0.00000833●●●●●●
91. 35280482 c.813+9A>G splice site 0.00000832●●●●●●
92. 35289678 c.265A>T p.T89S missense 0.00000832●●●●●●
93. 35242196 c.1190T>A p.L397Q missense 0.00000832●●●●●●
94. 35242200 c.1186C>G p.P396A missense 0.00000832●●●●●●
95. 35242211 c.1175G>C p.R392P missense 0.00000831●●●●●●
96. 35280656 c.655-7G>C splice site 0.00000830●●●●●●
97. 35271172 c.834T>A p.D278E missense 0.00000830●●●●●●
98. 35289621 c.322G>C p.E108Q missense 0.00000829●●●●●●
99. 35271137 c.869C>G p.S290C missense 0.00000829●●●●●●
100. 35280654 c.655-5T>C splice site 0.00000829●●●●●●
101. 35271143 c.863A>T p.D288V missense 0.00000829●●●●●●
102. 35289658 c.285G>T p.E95D missense 0.00000829●●●●●●
103. 35284565 c.650G>A p.G217D missense 0.00000829●●●●●●
104. 35280519 c.785C>T p.T262M missense 0.00000828●●●●●●
105. 35289655 c.288A>C p.E96D missense 0.00000828●●●●●●
106. 35280535 c.769C>G p.P257A missense 0.00000827●●●●●●
107. 35289645 c.298A>C p.I100L missense 0.00000827●●●●●●
108. 35280546 c.758C>A p.T253N missense 0.00000826●●●●●●
109. 35280543 c.761T>C p.F254S missense 0.00000826●●●●●●
110. 35280590 c.714C>A p.D238E missense 0.00000826●●●●●●
111. 35280591 c.713_714insAGA p.Lys237_Asp238insGlu inframe 0.00000826●●●●●●
112. 35280592 c.712G>C p.D238H missense 0.00000826●●●●●●
113. 35288341 c.493C>T p.H165Y missense 0.00000825●●●●●●
114. 35288281 c.545+8C>T splice site 0.00000825●●●●●●
115. 35288415 c.419T>C p.V140A missense 0.00000824●●●●●●
116. 35288377 c.457G>T p.V153F missense 0.00000824●●●●●●
117. 35288453 c.381G>A splice site 0.00000824●●●●●●
118. 35288404 c.430G>A p.A144T missense 0.00000824●●●●●●
119. 35288421 c.413C>T p.S138L missense 0.00000824●●●●●●
120. 35288405 c.429G>C p.E143D 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.