TGFBR2 missense variants in ExAC

TGFBR2 gene summary
TGFBR2 variants in

The table below lists the TGFBR2 missense 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. 30713246 c.571G>A p.V191I missense 0.00160774●●●●●●
2. 30733044 c.1657T>A p.S553T missense 0.00140086●●●●●●
3. 30713794 c.1119G>A p.M373I missense 0.00139380●●●●●●
4. 30713834 c.1159G>A p.V387M missense 0.00115616●●●●●●
5. 30713619 c.944C>T p.T315M missense 0.00101450●●●●●●
6. 30713883 c.1208G>A p.R403H missense 0.00036262●●●●●●
7. 30713834 c.1159G>T p.V387L missense 0.00035766●●●●●●
8. 30648379 c.4G>T p.G2C missense 0.00025922●●●●●●
9. 30686250 c.106A>G p.M36V missense 0.00020910●●●●●●
10. 30713139 c.464C>T p.T155I missense 0.00015661●●●●●●
11. 30713252 c.577C>T p.R193W missense 0.00012369●●●●●●
12. 30713897 c.1222C>A p.L408M missense 0.00012361●●●●●●
13. 30713324 c.649G>C p.A217P missense 0.00010739●●●●●●
14. 30686259 c.115A>T p.T39S missense 0.00009987●●●●●●
15. 30648377 c.2T>A p.Met1? missense 0.00007653●●●●●●
16. 30713753 c.1078C>G p.H360D missense 0.00006821●●●●●●
17. 30713244 c.569G>A p.R190H missense 0.00006596●●●●●●
18. 30691865 c.367A>T p.M123L missense 0.00006592●●●●●●
19. 30713613 c.938G>A p.R313Q missense 0.00005775●●●●●●
20. 30713660 c.985G>A p.A329T missense 0.00005771●●●●●●
21. 30713690 c.1015C>T p.R339W missense 0.00004970●●●●●●
22. 30713346 c.671G>A p.R224H missense 0.00004961●●●●●●
23. 30713186 c.511A>G p.S171G missense 0.00004945●●●●●●
24. 30713718 c.1043G>A p.R348H missense 0.00004193●●●●●●
25. 30713642 c.967C>G p.L323V missense 0.00004122●●●●●●
26. 30648451 c.76C>T p.P26S missense 0.00003876●●●●●●
27. 30648439 c.64A>T p.S22C missense 0.00003806●●●●●●
28. 30648383 c.8G>A p.R3Q missense 0.00003455●●●●●●
29. 30648383 c.8G>C p.R3P missense 0.00003455●●●●●●
30. 30691872 c.374A>G p.E125G missense 0.00003353●●●●●●
31. 30713702 c.1027A>G p.S343G missense 0.00003329●●●●●●
32. 30713342 c.667G>A p.D223N missense 0.00003306●●●●●●
33. 30713292 c.617C>T p.T206M missense 0.00003301●●●●●●
34. 30648398 c.23G>A p.G8D missense 0.00002638●●●●●●
35. 30713717 c.1042C>T p.R348C missense 0.00002513●●●●●●
36. 30713451 c.776A>G p.Y259C missense 0.00002486●●●●●●
37. 30713295 c.620G>A p.R207Q missense 0.00002477●●●●●●
38. 30733030 c.1643C>T p.S548L missense 0.00002472●●●●●●
39. 30691950 c.452A>T p.E151V missense 0.00002472●●●●●●
40. 30691892 c.394A>G p.T132A missense 0.00002471●●●●●●
41. 30648413 c.38A>G p.H13R missense 0.00002144●●●●●●
42. 30648431 c.56G>T p.R19L missense 0.00001937●●●●●●
43. 30648446 c.71T>C p.I24T missense 0.00001917●●●●●●
44. 30713742 c.1067G>A p.R356Q missense 0.00001702●●●●●●
45. 30713738 c.1063G>T p.A355S missense 0.00001696●●●●●●
46. 30713828 c.1153A>G p.I385V missense 0.00001670●●●●●●
47. 30686260 c.116C>A p.T39N missense 0.00001664●●●●●●
48. 30713691 c.1016G>A p.R339Q missense 0.00001657●●●●●●
49. 30729996 c.1517A>G p.N506S missense 0.00001657●●●●●●
50. 30713415 c.740A>T p.D247V missense 0.00001656●●●●●●
51. 30732934 c.1547C>T p.T516M missense 0.00001655●●●●●●
52. 30713528 c.853G>A p.A285T missense 0.00001655●●●●●●
53. 30713526 c.851A>G p.Y284C missense 0.00001655●●●●●●
54. 30713345 c.670C>T p.R224C missense 0.00001654●●●●●●
55. 30713364 c.689C>T p.T230M missense 0.00001654●●●●●●
56. 30713568 c.893A>G p.N298S missense 0.00001653●●●●●●
57. 30713303 c.628A>G p.M210V missense 0.00001651●●●●●●
58. 30713601 c.926C>T p.T309M missense 0.00001651●●●●●●
59. 30729950 c.1471G>C p.V491L missense 0.00001650●●●●●●
60. 30686387 c.243G>T p.Q81H missense 0.00001649●●●●●●
61. 30713231 c.556T>A p.F186I missense 0.00001648●●●●●●
62. 30733032 c.1645G>T p.G549W missense 0.00001648●●●●●●
63. 30691901 c.403A>G p.M135V missense 0.00001648●●●●●●
64. 30729906 c.1427C>T p.S476F missense 0.00001648●●●●●●
65. 30713892 c.1217C>T p.P406L missense 0.00001648●●●●●●
66. 30691869 c.371A>G p.K124R missense 0.00001648●●●●●●
67. 30713771 c.1096A>G p.T366A missense 0.00000853●●●●●●
68. 30713780 c.1105G>C p.G369R missense 0.00000852●●●●●●
69. 30713784 c.1109G>T p.R370M missense 0.00000851●●●●●●
70. 30713745 c.1070G>C p.G357A missense 0.00000851●●●●●●
71. 30713741 c.1066C>T p.R356W missense 0.00000851●●●●●●
72. 30713739 c.1064C>T p.A355V missense 0.00000849●●●●●●
73. 30713801 c.1126G>A p.V376M missense 0.00000847●●●●●●
74. 30713735 c.1060C>A p.L354I missense 0.00000846●●●●●●
75. 30713699 c.1024A>T p.I342F missense 0.00000831●●●●●●
76. 30729998 c.1519C>T p.H507Y missense 0.00000829●●●●●●
77. 30713478 c.803C>T p.S268L missense 0.00000829●●●●●●
78. 30686272 c.128G>C p.G43A missense 0.00000829●●●●●●
79. 30713436 c.761G>A p.R254H missense 0.00000829●●●●●●
80. 30686275 c.131C>T p.A44V missense 0.00000829●●●●●●
81. 30713472 c.797A>G p.N266S missense 0.00000829●●●●●●
82. 30686271 c.127G>A p.G43S missense 0.00000829●●●●●●
83. 30713498 c.823G>T p.A275S missense 0.00000828●●●●●●
84. 30713510 c.835T>C p.F279L missense 0.00000828●●●●●●
85. 30713360 c.685T>A p.S229T missense 0.00000827●●●●●●
86. 30713564 c.889A>G p.I297V missense 0.00000827●●●●●●
87. 30729981 c.1502C>T p.P501L missense 0.00000827●●●●●●
88. 30713846 c.1171C>G p.L391V missense 0.00000827●●●●●●
89. 30729986 c.1507T>C p.F503L missense 0.00000827●●●●●●
90. 30686299 c.155A>C p.K52T missense 0.00000827●●●●●●
91. 30713552 c.877A>G p.I293V missense 0.00000827●●●●●●
92. 30713582 c.907A>C p.N303H missense 0.00000826●●●●●●
93. 30713327 c.652A>G p.I218V missense 0.00000826●●●●●●
94. 30686310 c.166G>C p.V56L missense 0.00000826●●●●●●
95. 30686308 c.164A>T p.D55V missense 0.00000826●●●●●●
96. 30713315 c.640G>A p.E214K missense 0.00000826●●●●●●
97. 30713580 c.905A>T p.E302V missense 0.00000826●●●●●●
98. 30713320 c.645C>G p.H215Q missense 0.00000826●●●●●●
99. 30729969 c.1490G>A p.R497Q missense 0.00000826●●●●●●
100. 30713294 c.619C>T p.R207W missense 0.00000825●●●●●●
101. 30713676 c.1001A>G p.Q334R missense 0.00000825●●●●●●
102. 30686370 c.226A>G p.I76V missense 0.00000825●●●●●●
103. 30713651 c.976G>A p.A326T missense 0.00000825●●●●●●
104. 30713253 c.578G>A p.R193Q missense 0.00000825●●●●●●
105. 30713613 c.938G>T p.R313L missense 0.00000825●●●●●●
106. 30732954 c.1567C>G p.H523D missense 0.00000825●●●●●●
107. 30713628 c.953G>C p.G318A missense 0.00000825●●●●●●
108. 30713285 c.610G>A p.G204S missense 0.00000825●●●●●●
109. 30713666 c.991G>A p.G331S missense 0.00000825●●●●●●
110. 30713661 c.986C>T p.A329V missense 0.00000825●●●●●●
111. 30733083 c.1696A>G p.T566A missense 0.00000824●●●●●●
112. 30713243 c.568C>T p.R190C missense 0.00000824●●●●●●
113. 30691933 c.435C>G p.D145E missense 0.00000824●●●●●●
114. 30729885 c.1406A>G p.D469G missense 0.00000824●●●●●●
115. 30713180 c.505G>C p.G169R missense 0.00000824●●●●●●
116. 30729920 c.1441C>T p.H481Y missense 0.00000824●●●●●●
117. 30691845 c.347C>T p.A116V missense 0.00000824●●●●●●
118. 30733087 c.1700A>C p.K567T missense 0.00000824●●●●●●
119. 30733045 c.1658C>T p.S553L missense 0.00000824●●●●●●
120. 30715674 c.1332G>T p.Q444H missense 0.00000824●●●●●●
121. 30691883 c.385C>G p.P129A missense 0.00000824●●●●●●
122. 30691820 c.322T>C p.Y108H missense 0.00000824●●●●●●
123. 30729938 c.1459A>G p.M487V missense 0.00000824●●●●●●
124. 30729888 c.1409A>T p.Y470F missense 0.00000824●●●●●●
125. 30713659 c.984C>A p.H328Q missense 0.00000824●●●●●●
126. 30691928 c.430A>C p.N144H missense 0.00000824●●●●●●
127. 30715681 c.1339G>A p.V447I missense 0.00000824●●●●●●
128. 30713172 c.497A>G p.Q166R missense 0.00000824●●●●●●
129. 30715658 c.1316T>C p.V439A missense 0.00000824●●●●●●
130. 30691823 c.325C>G p.H109D missense 0.00000824●●●●●●
131. 30691775 c.277G>A p.E93K missense 0.00000824●●●●●●
132. 30691850 c.352T>C p.S118P missense 0.00000824●●●●●●
133. 30733068 c.1681G>A p.G561S missense 0.00000824●●●●●●
134. 30729940 c.1461G>A p.M487I missense 0.00000824●●●●●●
135. 30713217 c.542C>A p.S181Y missense 0.00000824●●●●●●
136. 30713219 c.544G>A p.V182I missense 0.00000824●●●●●●
137. 30733026 c.1639C>T p.L547F missense 0.00000824●●●●●●
138. 30729885 c.1406A>T p.D469V missense 0.00000824●●●●●●
139. 30713175 c.500T>C p.V167A missense 0.00000824●●●●●●
140. 30691803 c.305A>T p.H102L missense 0.00000824●●●●●●
141. 30691838 c.340G>C p.E114Q 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.