TGFB1 variants in ExAC

TGFB1 gene summary
TGFB1 variants in

The table below lists the TGFB1 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. 41858921 c.29C>T p.P10L missense 0.56228983●●●●●●
2. 41858876 c.74G>C p.R25P missense 0.07922884●●●●●●
3. 41847860 c.788C>T p.T263I missense 0.02461013●●●●●●
4. 41847943 c.713-8delC splice site 0.01393430●●●●●●
5. 41858590 c.355+5G>A splice site 0.00287351●●●●●●
6. 41858921 c.29C>G p.P10R missense 0.00064051●●●●●●
7. 41838037 c.1010G>C p.S337T missense 0.00063581●●●●●●
8. 41837123 c.1015-8G>A splice site 0.00061290●●●●●●
9. 41838160 c.887G>A p.R296Q missense 0.00038626●●●●●●
10. 41858864 c.86G>A p.G29E missense 0.00036210●●●●●●
11. 41854261 c.455G>A p.R152Q missense 0.00021418●●●●●●
12. 41854194 c.516+6G>T splice site 0.00018952●●●●●●
13. 41858650 c.300G>T p.E100D missense 0.00017380●●●●●●
14. 41850733 c.553C>T p.R185W missense 0.00015778●●●●●●
15. 41858612 c.338T>C p.M113T missense 0.00014836●●●●●●
16. 41837122 c.1015-7C>G splice site 0.00012048●●●●●●
17. 41858939 c.11C>T p.S4F missense 0.00010404●●●●●●
18. 41858937 c.13G>C p.G5R missense 0.00010343●●●●●●
19. 41847926 c.722C>T p.T241I missense 0.00009128●●●●●●
20. 41854317 c.399G>A p.M133I missense 0.00008239●●●●●●
21. 41854262 c.454C>T p.R152W missense 0.00008238●●●●●●
22. 41854294 c.422G>A p.R141Q missense 0.00007414●●●●●●
23. 41858892 c.58G>C p.V20L missense 0.00007329●●●●●●
24. 41837091 c.1039A>T p.N347Y missense 0.00007159●●●●●●
25. 41858865 c.85G>A p.G29R missense 0.00006279●●●●●●
26. 41850673 c.613C>T p.R205W missense 0.00006066●●●●●●
27. 41858864 c.86G>C p.G29A missense 0.00006035●●●●●●
28. 41850657 c.629G>A p.R210H missense 0.00005942●●●●●●
29. 41837075 c.1055C>T p.A352V missense 0.00005758●●●●●●
30. 41858842 c.108C>G p.I36M missense 0.00005391●●●●●●
31. 41850682 c.604G>A p.G202R missense 0.00005280●●●●●●
32. 41848104 c.683G>A p.R228K missense 0.00005042●●●●●●
33. 41847933 c.715T>A p.F239I missense 0.00004981●●●●●●
34. 41858792 c.158T>C p.I53T missense 0.00004524●●●●●●
35. 41847857 c.791C>T p.P264L missense 0.00004142●●●●●●
36. 41837042 c.1088C>G p.P363R missense 0.00003841●●●●●●
37. 41848105 c.682A>G p.R228G missense 0.00003794●●●●●●
38. 41838175 c.872A>C p.K291T missense 0.00003417●●●●●●
39. 41854274 c.442G>A p.V148M missense 0.00003295●●●●●●
40. 41837016 c.1114C>T p.R372C missense 0.00003120●●●●●●
41. 41858744 c.206C>T p.P69L missense 0.00002916●●●●●●
42. 41850732 c.554G>A p.R185Q missense 0.00002745●●●●●●
43. 41838139 c.908G>A p.R303H missense 0.00002489●●●●●●
44. 41847884 c.764G>A p.R255Q missense 0.00002487●●●●●●
45. 41838028 c.1014+5G>A splice site 0.00002479●●●●●●
46. 41854264 c.452C>T p.S151F missense 0.00002471●●●●●●
47. 41858735 c.215C>A p.P72Q missense 0.00002433●●●●●●
48. 41850763 c.523A>G p.S175G missense 0.00002189●●●●●●
49. 41858694 c.256G>T p.D86Y missense 0.00002105●●●●●●
50. 41848160 c.635-8T>C splice site 0.00002056●●●●●●
51. 41858684 c.266C>T p.A89V missense 0.00001965●●●●●●
52. 41858587 c.355+8C>T splice site 0.00001876●●●●●●
53. 41848151 c.636G>A splice site 0.00001787●●●●●●
54. 41850747 c.539G>A p.R180Q missense 0.00001739●●●●●●
55. 41838181 c.866C>T p.T289M missense 0.00001729●●●●●●
56. 41838140 c.907C>T p.R303C missense 0.00001660●●●●●●
57. 41847927 c.721A>G p.T241A missense 0.00001660●●●●●●
58. 41847867 c.781A>T p.M261L missense 0.00001657●●●●●●
59. 41847783 c.860+5G>A splice site 0.00001655●●●●●●
60. 41838111 c.936C>G p.H312Q missense 0.00001653●●●●●●
61. 41838046 c.1001C>T p.T334M missense 0.00001651●●●●●●
62. 41850742 c.544C>T p.L182F missense 0.00001651●●●●●●
63. 41850742 c.544C>G p.L182V missense 0.00001651●●●●●●
64. 41838077 c.970G>A p.G324R missense 0.00001650●●●●●●
65. 41854310 c.406A>T p.N136Y missense 0.00001648●●●●●●
66. 41848126 c.661G>T p.A221S missense 0.00001439●●●●●●
67. 41850735 c.551A>G p.N184S missense 0.00001430●●●●●●
68. 41848101 c.686A>G p.D229G missense 0.00001245●●●●●●
69. 41848097 c.690C>G p.N230K missense 0.00001228●●●●●●
70. 41848090 c.697C>T p.Q233X nonsense 0.00001201●●●●●●
71. 41848072 c.712+3G>A splice site 0.00001139●●●●●●
72. 41858702 c.248G>C p.S83T missense 0.00001114●●●●●●
73. 41858690 c.260G>C p.R87P missense 0.00001030●●●●●●
74. 41850698 c.588A>C p.L196F missense 0.00000932●●●●●●
75. 41858592 c.355+3G>A splice site 0.00000913●●●●●●
76. 41858593 c.355+2T>C essential splice site 0.00000910●●●●●●
77. 41858664 c.286G>A p.E96K missense 0.00000887●●●●●●
78. 41858658 c.292G>A p.E98K missense 0.00000879●●●●●●
79. 41850679 c.607G>A p.V203I missense 0.00000875●●●●●●
80. 41858655 c.295C>A p.P99T missense 0.00000873●●●●●●
81. 41858613 c.337A>G p.M113V missense 0.00000872●●●●●●
82. 41858644 c.306C>G p.D102E missense 0.00000866●●●●●●
83. 41850672 c.614G>A p.R205Q missense 0.00000865●●●●●●
84. 41850661 c.625A>C p.S209R missense 0.00000852●●●●●●
85. 41838174 c.873_875delGAA p.Lys291del inframe 0.00000852●●●●●●
86. 41850658 c.628C>T p.R210C missense 0.00000849●●●●●●
87. 41850649 c.634+3G>A splice site 0.00000846●●●●●●
88. 41847930 c.718A>G p.T240A missense 0.00000830●●●●●●
89. 41847924 c.724G>A p.G242S missense 0.00000830●●●●●●
90. 41847938 c.713-3C>G splice site 0.00000830●●●●●●
91. 41847930 c.718A>C p.T240P missense 0.00000830●●●●●●
92. 41847900 c.748A>G p.I250V missense 0.00000829●●●●●●
93. 41847885 c.763C>T p.R255W missense 0.00000829●●●●●●
94. 41847899 c.749T>G p.I250S missense 0.00000829●●●●●●
95. 41847863 c.785C>T p.A262V missense 0.00000828●●●●●●
96. 41838125 c.922T>C p.W308R missense 0.00000827●●●●●●
97. 41847830 c.818G>A p.S273N missense 0.00000827●●●●●●
98. 41847797 c.851A>G p.Y284C missense 0.00000827●●●●●●
99. 41847809 c.839T>C p.L280P missense 0.00000827●●●●●●
100. 41847827 c.821C>T p.S274F missense 0.00000827●●●●●●
101. 41838037 c.1010G>A p.S337N missense 0.00000826●●●●●●
102. 41838103 c.944A>G p.K315R missense 0.00000826●●●●●●
103. 41838094 c.953A>G p.H318R missense 0.00000826●●●●●●
104. 41838102 c.945G>C p.K315N missense 0.00000826●●●●●●
105. 41838080 c.967C>T p.L323F missense 0.00000825●●●●●●
106. 41838055 c.992G>C p.S331T missense 0.00000825●●●●●●
107. 41838050 c.997G>A p.D333N missense 0.00000825●●●●●●
108. 41838086 c.961T>C p.F321L missense 0.00000825●●●●●●
109. 41838056 c.991A>G p.S331G missense 0.00000825●●●●●●
110. 41838074 c.973C>G p.P325A missense 0.00000825●●●●●●
111. 41854347 c.369G>T p.K123N missense 0.00000824●●●●●●
112. 41854211 c.505G>C p.E169Q missense 0.00000824●●●●●●
113. 41854273 c.443T>C p.V148A missense 0.00000824●●●●●●
114. 41854199 c.516+1G>A essential splice site 0.00000824●●●●●●
115. 41854274 c.442G>T p.V148L missense 0.00000824●●●●●●
116. 41854342 c.374A>G p.K125R missense 0.00000824●●●●●●
117. 41854321 c.395A>G p.Y132C missense 0.00000824●●●●●●
118. 41854288 c.428C>T p.A143V missense 0.00000824●●●●●●
119. 41854261 c.455G>T p.R152L 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.