TGFBR2 variants in ExAC

TGFBR2 gene summary
TGFBR2 variants in

The table below lists the TGFBR2 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. 30686414 c.263+7A>G splice site 0.37254805●●●●●●
2. 30713126 c.455-4T>A splice site 0.29276603●●●●●●
3. 30691872 c.374delA p.Lys128SerfsX35 frameshift 0.04047198●●●●●●
4. 30713246 c.571G>A p.V191I missense 0.00160774●●●●●●
5. 30733044 c.1657T>A p.S553T missense 0.00140086●●●●●●
6. 30713794 c.1119G>A p.M373I missense 0.00139380●●●●●●
7. 30713834 c.1159G>A p.V387M missense 0.00115616●●●●●●
8. 30713619 c.944C>T p.T315M missense 0.00101450●●●●●●
9. 30732904 c.1525-8C>T splice site 0.00062581●●●●●●
10. 30691872 c.374dupA p.Pro129AlafsTer3 frameshift 0.00054692●●●●●●
11. 30713883 c.1208G>A p.R403H missense 0.00036262●●●●●●
12. 30713834 c.1159G>T p.V387L missense 0.00035766●●●●●●
13. 30648379 c.4G>T p.G2C missense 0.00025922●●●●●●
14. 30732905 c.1525-7G>A splice site 0.00024440●●●●●●
15. 30686250 c.106A>G p.M36V missense 0.00020910●●●●●●
16. 30713139 c.464C>T p.T155I missense 0.00015661●●●●●●
17. 30713252 c.577C>T p.R193W missense 0.00012369●●●●●●
18. 30713897 c.1222C>A p.L408M missense 0.00012361●●●●●●
19. 30713324 c.649G>C p.A217P missense 0.00010739●●●●●●
20. 30686259 c.115A>T p.T39S missense 0.00009987●●●●●●
21. 30648377 c.2T>A p.Met1? missense 0.00007653●●●●●●
22. 30713753 c.1078C>G p.H360D missense 0.00006821●●●●●●
23. 30713244 c.569G>A p.R190H missense 0.00006596●●●●●●
24. 30691865 c.367A>T p.M123L missense 0.00006592●●●●●●
25. 30713613 c.938G>A p.R313Q missense 0.00005775●●●●●●
26. 30713660 c.985G>A p.A329T missense 0.00005771●●●●●●
27. 30713690 c.1015C>T p.R339W missense 0.00004970●●●●●●
28. 30713346 c.671G>A p.R224H missense 0.00004961●●●●●●
29. 30713186 c.511A>G p.S171G missense 0.00004945●●●●●●
30. 30713718 c.1043G>A p.R348H missense 0.00004193●●●●●●
31. 30713642 c.967C>G p.L323V missense 0.00004122●●●●●●
32. 30648451 c.76C>T p.P26S missense 0.00003876●●●●●●
33. 30648439 c.64A>T p.S22C missense 0.00003806●●●●●●
34. 30648383 c.8G>A p.R3Q missense 0.00003455●●●●●●
35. 30648383 c.8G>C p.R3P missense 0.00003455●●●●●●
36. 30686236 c.95-3C>A splice site 0.00003420●●●●●●
37. 30691872 c.374A>G p.E125G missense 0.00003353●●●●●●
38. 30713702 c.1027A>G p.S343G missense 0.00003329●●●●●●
39. 30713342 c.667G>A p.D223N missense 0.00003306●●●●●●
40. 30713292 c.617C>T p.T206M missense 0.00003301●●●●●●
41. 30648398 c.23G>A p.G8D missense 0.00002638●●●●●●
42. 30686232 c.95-7T>C splice site 0.00002595●●●●●●
43. 30686237 c.95-2A>G essential splice site 0.00002557●●●●●●
44. 30713717 c.1042C>T p.R348C missense 0.00002513●●●●●●
45. 30713451 c.776A>G p.Y259C missense 0.00002486●●●●●●
46. 30713295 c.620G>A p.R207Q missense 0.00002477●●●●●●
47. 30691950 c.452A>T p.E151V missense 0.00002472●●●●●●
48. 30733030 c.1643C>T p.S548L missense 0.00002472●●●●●●
49. 30691892 c.394A>G p.T132A missense 0.00002471●●●●●●
50. 30648413 c.38A>G p.H13R missense 0.00002144●●●●●●
51. 30648431 c.56G>T p.R19L missense 0.00001937●●●●●●
52. 30648446 c.71T>C p.I24T missense 0.00001917●●●●●●
53. 30713742 c.1067G>A p.R356Q missense 0.00001702●●●●●●
54. 30713738 c.1063G>T p.A355S missense 0.00001696●●●●●●
55. 30732907 c.1525-5T>C splice site 0.00001677●●●●●●
56. 30732909 c.1525-3C>T splice site 0.00001674●●●●●●
57. 30713828 c.1153A>G p.I385V missense 0.00001670●●●●●●
58. 30686260 c.116C>A p.T39N missense 0.00001664●●●●●●
59. 30713691 c.1016G>A p.R339Q missense 0.00001657●●●●●●
60. 30729996 c.1517A>G p.N506S missense 0.00001657●●●●●●
61. 30713415 c.740A>T p.D247V missense 0.00001656●●●●●●
62. 30713528 c.853G>A p.A285T missense 0.00001655●●●●●●
63. 30732934 c.1547C>T p.T516M missense 0.00001655●●●●●●
64. 30713526 c.851A>G p.Y284C missense 0.00001655●●●●●●
65. 30713345 c.670C>T p.R224C missense 0.00001654●●●●●●
66. 30713364 c.689C>T p.T230M missense 0.00001654●●●●●●
67. 30713568 c.893A>G p.N298S missense 0.00001653●●●●●●
68. 30713601 c.926C>T p.T309M missense 0.00001651●●●●●●
69. 30713303 c.628A>G p.M210V missense 0.00001651●●●●●●
70. 30729950 c.1471G>C p.V491L missense 0.00001650●●●●●●
71. 30686387 c.243G>T p.Q81H missense 0.00001649●●●●●●
72. 30733032 c.1645G>T p.G549W missense 0.00001648●●●●●●
73. 30691869 c.371A>G p.K124R missense 0.00001648●●●●●●
74. 30691948 c.450_452delAGA p.Glu152del inframe 0.00001648●●●●●●
75. 30691901 c.403A>G p.M135V missense 0.00001648●●●●●●
76. 30713892 c.1217C>T p.P406L missense 0.00001648●●●●●●
77. 30729906 c.1427C>T p.S476F missense 0.00001648●●●●●●
78. 30713231 c.556T>A p.F186I missense 0.00001648●●●●●●
79. 30715593 c.1255-4A>G splice site 0.00001648●●●●●●
80. 30686232 c.95-7T>G splice site 0.00000865●●●●●●
81. 30713771 c.1096A>G p.T366A missense 0.00000853●●●●●●
82. 30713780 c.1105G>C p.G369R missense 0.00000852●●●●●●
83. 30713784 c.1109G>T p.R370M missense 0.00000851●●●●●●
84. 30713745 c.1070G>C p.G357A missense 0.00000851●●●●●●
85. 30713741 c.1066C>T p.R356W missense 0.00000851●●●●●●
86. 30713739 c.1064C>T p.A355V missense 0.00000849●●●●●●
87. 30713801 c.1126G>A p.V376M missense 0.00000847●●●●●●
88. 30713735 c.1060C>A p.L354I missense 0.00000846●●●●●●
89. 30732906 c.1525-6C>G splice site 0.00000841●●●●●●
90. 30713699 c.1024A>T p.I342F missense 0.00000831●●●●●●
91. 30713436 c.761G>A p.R254H missense 0.00000829●●●●●●
92. 30686271 c.127G>A p.G43S missense 0.00000829●●●●●●
93. 30713472 c.797A>G p.N266S missense 0.00000829●●●●●●
94. 30686272 c.128G>C p.G43A missense 0.00000829●●●●●●
95. 30729998 c.1519C>T p.H507Y missense 0.00000829●●●●●●
96. 30686275 c.131C>T p.A44V missense 0.00000829●●●●●●
97. 30713478 c.803C>T p.S268L missense 0.00000829●●●●●●
98. 30713498 c.823G>T p.A275S missense 0.00000828●●●●●●
99. 30713510 c.835T>C p.F279L missense 0.00000828●●●●●●
100. 30713846 c.1171C>G p.L391V missense 0.00000827●●●●●●
101. 30686413 c.263+6C>T splice site 0.00000827●●●●●●
102. 30686299 c.155A>C p.K52T missense 0.00000827●●●●●●
103. 30729986 c.1507T>C p.F503L missense 0.00000827●●●●●●
104. 30713552 c.877A>G p.I293V missense 0.00000827●●●●●●
105. 30713564 c.889A>G p.I297V missense 0.00000827●●●●●●
106. 30713360 c.685T>A p.S229T missense 0.00000827●●●●●●
107. 30729981 c.1502C>T p.P501L missense 0.00000827●●●●●●
108. 30713315 c.640G>A p.E214K missense 0.00000826●●●●●●
109. 30713580 c.905A>T p.E302V missense 0.00000826●●●●●●
110. 30713320 c.645C>G p.H215Q missense 0.00000826●●●●●●
111. 30686308 c.164A>T p.D55V missense 0.00000826●●●●●●
112. 30729969 c.1490G>A p.R497Q missense 0.00000826●●●●●●
113. 30713582 c.907A>C p.N303H missense 0.00000826●●●●●●
114. 30713327 c.652A>G p.I218V missense 0.00000826●●●●●●
115. 30686412 c.263+5G>A splice site 0.00000826●●●●●●
116. 30686310 c.166G>C p.V56L missense 0.00000826●●●●●●
117. 30713613 c.938G>T p.R313L missense 0.00000825●●●●●●
118. 30713253 c.578G>A p.R193Q missense 0.00000825●●●●●●
119. 30686387 c.243delG p.Glu82LysfsTer14 frameshift 0.00000825●●●●●●
120. 30732954 c.1567C>G p.H523D missense 0.00000825●●●●●●
121. 30713628 c.953G>C p.G318A missense 0.00000825●●●●●●
122. 30713285 c.610G>A p.G204S missense 0.00000825●●●●●●
123. 30713666 c.991G>A p.G331S missense 0.00000825●●●●●●
124. 30686370 c.226A>G p.I76V missense 0.00000825●●●●●●
125. 30713125 c.455-5A>G splice site 0.00000825●●●●●●
126. 30713294 c.619C>T p.R207W missense 0.00000825●●●●●●
127. 30713661 c.986C>T p.A329V missense 0.00000825●●●●●●
128. 30713676 c.1001A>G p.Q334R missense 0.00000825●●●●●●
129. 30713651 c.976G>A p.A326T missense 0.00000825●●●●●●
130. 30733046 c.1659_1661delGGA p.Glu555del inframe 0.00000824●●●●●●
131. 30729888 c.1409A>T p.Y470F missense 0.00000824●●●●●●
132. 30729938 c.1459A>G p.M487V missense 0.00000824●●●●●●
133. 30715658 c.1316T>C p.V439A missense 0.00000824●●●●●●
134. 30713659 c.984C>A p.H328Q missense 0.00000824●●●●●●
135. 30715681 c.1339G>A p.V447I missense 0.00000824●●●●●●
136. 30713172 c.497A>G p.Q166R missense 0.00000824●●●●●●
137. 30691838 c.340G>C p.E114Q missense 0.00000824●●●●●●
138. 30691803 c.305A>T p.H102L missense 0.00000824●●●●●●
139. 30733068 c.1681G>A p.G561S missense 0.00000824●●●●●●
140. 30733045 c.1658C>T p.S553L missense 0.00000824●●●●●●
141. 30729940 c.1461G>A p.M487I missense 0.00000824●●●●●●
142. 30713217 c.542C>A p.S181Y missense 0.00000824●●●●●●
143. 30715735 c.1393G>T p.G465X nonsense 0.00000824●●●●●●
144. 30691933 c.435C>G p.D145E missense 0.00000824●●●●●●
145. 30691954 c.454+2T>C essential splice site 0.00000824●●●●●●
146. 30733026 c.1639C>T p.L547F missense 0.00000824●●●●●●
147. 30729885 c.1406A>T p.D469V missense 0.00000824●●●●●●
148. 30713175 c.500T>C p.V167A missense 0.00000824●●●●●●
149. 30713219 c.544G>A p.V182I missense 0.00000824●●●●●●
150. 30691845 c.347C>T p.A116V missense 0.00000824●●●●●●
151. 30715739 c.1396+1G>A essential splice site 0.00000824●●●●●●
152. 30733083 c.1696A>G p.T566A missense 0.00000824●●●●●●
153. 30713243 c.568C>T p.R190C missense 0.00000824●●●●●●
154. 30691883 c.385C>G p.P129A missense 0.00000824●●●●●●
155. 30691820 c.322T>C p.Y108H missense 0.00000824●●●●●●
156. 30733032 c.1645_1646insGGAGGAGCTGCTC p.Lys556LeufsTer8 frameshift 0.00000824●●●●●●
157. 30691850 c.352T>C p.S118P missense 0.00000824●●●●●●
158. 30729885 c.1406A>G p.D469G missense 0.00000824●●●●●●
159. 30713180 c.505G>C p.G169R missense 0.00000824●●●●●●
160. 30729920 c.1441C>T p.H481Y missense 0.00000824●●●●●●
161. 30733087 c.1700A>C p.K567T missense 0.00000824●●●●●●
162. 30691882 c.384delG p.Lys128AsnfsTer35 frameshift 0.00000824●●●●●●
163. 30715674 c.1332G>T p.Q444H missense 0.00000824●●●●●●
164. 30691952 c.454G>T p.E152X nonsense 0.00000824●●●●●●
165. 30691928 c.430A>C p.N144H missense 0.00000824●●●●●●
166. 30691823 c.325C>G p.H109D missense 0.00000824●●●●●●
167. 30691775 c.277G>A p.E93K 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.