ClinVar Miner

List of variants in gene TGFBR2 reported as likely benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 243
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HGVS dbSNP gnomAD frequency
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192 0.00130
NM_003242.6(TGFBR2):c.106A>G (p.Met36Val) rs17025864 0.00092
NM_003242.6(TGFBR2):c.649G>C (p.Ala217Pro) rs149141477 0.00046
NM_003242.6(TGFBR2):c.1525-7G>A rs377499122 0.00032
NM_003242.6(TGFBR2):c.263+17A>C rs34771516 0.00029
NM_003242.6(TGFBR2):c.1548G>A (p.Thr516=) rs140662877 0.00021
NM_003242.6(TGFBR2):c.4G>T (p.Gly2Cys) rs565502802 0.00021
NM_003242.6(TGFBR2):c.678C>T (p.Asp226=) rs147111149 0.00019
NM_003242.6(TGFBR2):c.984C>T (p.His328=) rs193922666 0.00018
NM_003242.6(TGFBR2):c.747G>C (p.Leu249=) rs772907386 0.00014
NM_003242.6(TGFBR2):c.94+16238C>T rs149757320 0.00013
NM_003242.6(TGFBR2):c.1356G>T (p.Leu452=) rs997766869 0.00011
NM_003242.6(TGFBR2):c.1092T>C (p.Asp364=) rs149195553 0.00010
NM_003242.6(TGFBR2):c.367A>T (p.Met123Leu) rs768385200 0.00010
NM_003242.6(TGFBR2):c.95-20A>G rs371326218 0.00010
NM_003242.6(TGFBR2):c.577C>T (p.Arg193Trp) rs61762550 0.00008
NM_003242.6(TGFBR2):c.1255-15C>G rs563937625 0.00007
NM_003242.6(TGFBR2):c.1464G>A (p.Lys488=) rs753282415 0.00007
NM_003242.6(TGFBR2):c.570C>T (p.Arg190=) rs143775631 0.00006
NM_003242.6(TGFBR2):c.94+16263A>C rs200111443 0.00006
NM_003242.6(TGFBR2):c.985G>A (p.Ala329Thr) rs148665451 0.00006
NM_003242.6(TGFBR2):c.567C>T (p.Tyr189=) rs371221124 0.00005
NM_003242.6(TGFBR2):c.126C>T (p.Asn42=) rs574133875 0.00004
NM_003242.6(TGFBR2):c.1524+10G>C rs377397188 0.00004
NM_003242.6(TGFBR2):c.1569C>T (p.His523=) rs760107571 0.00004
NM_003242.6(TGFBR2):c.1587C>T (p.Leu529=) rs761435905 0.00004
NM_003242.6(TGFBR2):c.609C>T (p.Thr203=) rs769938385 0.00004
NM_003242.6(TGFBR2):c.696C>T (p.Ala232=) rs768508812 0.00004
NM_003242.6(TGFBR2):c.69G>T (p.Thr23=) rs878854612 0.00004
NM_003242.6(TGFBR2):c.975C>T (p.Thr325=) rs532098604 0.00004
NM_003242.6(TGFBR2):c.1470C>T (p.Asn490=) rs141113059 0.00003
NM_003242.6(TGFBR2):c.1473G>A (p.Val491=) rs752287982 0.00003
NM_003242.6(TGFBR2):c.1680C>T (p.Asp560=) rs376815143 0.00003
NM_003242.6(TGFBR2):c.276C>T (p.Asp92=) rs774840447 0.00003
NM_003242.6(TGFBR2):c.639C>T (p.Ser213=) rs200332401 0.00003
NM_003242.6(TGFBR2):c.708C>T (p.Asn236=) rs141554621 0.00003
NM_003242.6(TGFBR2):c.81C>T (p.His27=) rs1057520957 0.00003
NM_003242.6(TGFBR2):c.94+16278G>C rs557449314 0.00003
NM_003242.6(TGFBR2):c.1048C>T (p.Leu350=) rs755843367 0.00002
NM_003242.6(TGFBR2):c.1158C>T (p.Leu386=) rs757158964 0.00002
NM_003242.6(TGFBR2):c.1407T>C (p.Asp469=) rs573025864 0.00002
NM_003242.6(TGFBR2):c.1476G>A (p.Leu492=) rs1006428695 0.00002
NM_003242.6(TGFBR2):c.1014G>A (p.Thr338=) rs764720370 0.00001
NM_003242.6(TGFBR2):c.102C>T (p.Asn34=) rs753739611 0.00001
NM_003242.6(TGFBR2):c.1116G>A (p.Lys372=) rs753782498 0.00001
NM_003242.6(TGFBR2):c.1125C>T (p.Ile375=) rs751663055 0.00001
NM_003242.6(TGFBR2):c.1173A>G (p.Leu391=) rs1013308477 0.00001
NM_003242.6(TGFBR2):c.1185G>C (p.Leu395=) rs193922663 0.00001
NM_003242.6(TGFBR2):c.1208G>A (p.Arg403His) rs143095746 0.00001
NM_003242.6(TGFBR2):c.1210C>T (p.Leu404=) rs1253996257 0.00001
NM_003242.6(TGFBR2):c.1224G>C (p.Leu408=) rs1166053807 0.00001
NM_003242.6(TGFBR2):c.1255-4A>G rs773834537 0.00001
NM_003242.6(TGFBR2):c.1263T>G (p.Thr421=) rs1397322686 0.00001
NM_003242.6(TGFBR2):c.1293A>G (p.Glu431=) rs774384466 0.00001
NM_003242.6(TGFBR2):c.1314T>C (p.Asn438=) rs772490613 0.00001
NM_003242.6(TGFBR2):c.1452C>T (p.Val484=) rs185502982 0.00001
NM_003242.6(TGFBR2):c.1482T>C (p.Asp494=) rs757583727 0.00001
NM_003242.6(TGFBR2):c.1521C>T (p.His507=) rs544130308 0.00001
NM_003242.6(TGFBR2):c.1525-5T>C rs770896804 0.00001
NM_003242.6(TGFBR2):c.1525-6C>G rs748388518 0.00001
NM_003242.6(TGFBR2):c.1539G>A (p.Val513=) rs1369389276 0.00001
NM_003242.6(TGFBR2):c.1644G>A (p.Ser548=) rs781309781 0.00001
NM_003242.6(TGFBR2):c.1656C>T (p.Cys552=) rs756434427 0.00001
NM_003242.6(TGFBR2):c.1659G>A (p.Ser553=) rs771926828 0.00001
NM_003242.6(TGFBR2):c.1668G>A (p.Lys556=) rs779923854 0.00001
NM_003242.6(TGFBR2):c.1701A>G (p.Lys567=) rs763371077 0.00001
NM_003242.6(TGFBR2):c.454+17T>C rs779815443 0.00001
NM_003242.6(TGFBR2):c.486A>G (p.Leu162=) rs761927882 0.00001
NM_003242.6(TGFBR2):c.54G>C (p.Thr18=) rs139456857 0.00001
NM_003242.6(TGFBR2):c.594T>C (p.Ser198=) rs886038945 0.00001
NM_003242.6(TGFBR2):c.621G>A (p.Arg207=) rs886058304 0.00001
NM_003242.6(TGFBR2):c.658C>T (p.Leu220=) rs1424646103 0.00001
NM_003242.6(TGFBR2):c.666T>C (p.Asp222=) rs755404252 0.00001
NM_003242.6(TGFBR2):c.6T>C (p.Gly2=) rs758864131 0.00001
NM_003242.6(TGFBR2):c.705C>T (p.Ile235=) rs1699345595 0.00001
NM_003242.6(TGFBR2):c.750G>A (p.Val250=) rs762572402 0.00001
NM_003242.6(TGFBR2):c.75A>G (p.Pro25=) rs572435149 0.00001
NM_003242.6(TGFBR2):c.810G>A (p.Gln270=) rs777990831 0.00001
NM_003242.6(TGFBR2):c.933G>A (p.Glu311=) rs754003334 0.00001
NM_003242.6(TGFBR2):c.94+16293C>A rs138262219 0.00001
NM_003242.6(TGFBR2):c.95-10C>G rs952006496 0.00001
NM_003242.6(TGFBR2):c.1014G>C (p.Thr338=) rs764720370
NM_003242.6(TGFBR2):c.1014G>T (p.Thr338=)
NM_003242.6(TGFBR2):c.1029C>T (p.Ser343=) rs1060504407
NM_003242.6(TGFBR2):c.1053C>A (p.Gly351=) rs1472277404
NM_003242.6(TGFBR2):c.1059C>A (p.Ser353=)
NM_003242.6(TGFBR2):c.1071G>A (p.Gly357=) rs1575158015
NM_003242.6(TGFBR2):c.1083C>G (p.Leu361=) rs2125436052
NM_003242.6(TGFBR2):c.1101A>G (p.Pro367=)
NM_003242.6(TGFBR2):c.1128G>A (p.Val376=) rs1057523953
NM_003242.6(TGFBR2):c.1134G>A (p.Arg378=) rs1575158079
NM_003242.6(TGFBR2):c.1152T>C (p.Asn384=) rs193922661
NM_003242.6(TGFBR2):c.1155C>T (p.Ile385=)
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003242.6(TGFBR2):c.1171C>T (p.Leu391=) rs779762218
NM_003242.6(TGFBR2):c.1185G>A (p.Leu395=)
NM_003242.6(TGFBR2):c.1185G>T (p.Leu395=) rs193922663
NM_003242.6(TGFBR2):c.1206G>T (p.Leu402=)
NM_003242.6(TGFBR2):c.1218T>C (p.Pro406=)
NM_003242.6(TGFBR2):c.1221T>G (p.Thr407=) rs2125436986
NM_003242.6(TGFBR2):c.1224G>T (p.Leu408=)
NM_003242.6(TGFBR2):c.1239G>T (p.Leu413=) rs369151798
NM_003242.6(TGFBR2):c.1245C>T (p.Asn415=) rs2125437117
NM_003242.6(TGFBR2):c.1251G>A (p.Gly417=) rs773533577
NM_003242.6(TGFBR2):c.1254+11G>A
NM_003242.6(TGFBR2):c.1254+14A>C
NM_003242.6(TGFBR2):c.1254+15G>A
NM_003242.6(TGFBR2):c.1254+16T>G
NM_003242.6(TGFBR2):c.1254+8A>G rs200630803
NM_003242.6(TGFBR2):c.1254+9G>A
NM_003242.6(TGFBR2):c.1254+9G>T
NM_003242.6(TGFBR2):c.1255-20A>G
NM_003242.6(TGFBR2):c.1255-7G>T rs1575158857
NM_003242.6(TGFBR2):c.1281A>G (p.Pro427=)
NM_003242.6(TGFBR2):c.1296C>T (p.Ser432=) rs2125438921
NM_003242.6(TGFBR2):c.129T>C (p.Gly43=)
NM_003242.6(TGFBR2):c.12G>A (p.Gly4=)
NM_003242.6(TGFBR2):c.1308G>A (p.Leu436=)
NM_003242.6(TGFBR2):c.1335C>T (p.Thr445=) rs546058122
NM_003242.6(TGFBR2):c.1341C>G (p.Val447=)
NM_003242.6(TGFBR2):c.1359G>A (p.Val453=)
NM_003242.6(TGFBR2):c.135C>T (p.Val45=) rs1575143681
NM_003242.6(TGFBR2):c.1374A>T (p.Thr458=) rs2125439348
NM_003242.6(TGFBR2):c.1396+15G>A
NM_003242.6(TGFBR2):c.1396+20A>C
NM_003242.6(TGFBR2):c.1396+9G>A rs2125439495
NM_003242.6(TGFBR2):c.1397-13G>A
NM_003242.6(TGFBR2):c.1401A>G (p.Val467=) rs2125451595
NM_003242.6(TGFBR2):c.1416T>C (p.Pro472=) rs2125451658
NM_003242.6(TGFBR2):c.1419A>G (p.Pro473=) rs1208454327
NM_003242.6(TGFBR2):c.1431G>A (p.Lys477=)
NM_003242.6(TGFBR2):c.1446C>T (p.Pro482=)
NM_003242.6(TGFBR2):c.147A>G (p.Gln49=)
NM_003242.6(TGFBR2):c.1515C>T (p.Leu505=) rs2125452259
NM_003242.6(TGFBR2):c.1524+10G>A
NM_003242.6(TGFBR2):c.1524+11_1524+12del
NM_003242.6(TGFBR2):c.1524+11_1524+14del
NM_003242.6(TGFBR2):c.1524+12G>A rs1472205679
NM_003242.6(TGFBR2):c.1525-14C>T rs1699706434
NM_003242.6(TGFBR2):c.1525-15T>A
NM_003242.6(TGFBR2):c.1525-9C>T
NM_003242.6(TGFBR2):c.1542T>C (p.Cys514=) rs1575166645
NM_003242.6(TGFBR2):c.1557G>A (p.Glu519=)
NM_003242.6(TGFBR2):c.156A>G (p.Lys52=) rs1698701197
NM_003242.6(TGFBR2):c.1572C>T (p.Asp524=) rs2125455254
NM_003242.6(TGFBR2):c.1647G>T (p.Gly549=) rs2125455641
NM_003242.6(TGFBR2):c.1687C>T (p.Leu563=)
NM_003242.6(TGFBR2):c.1692C>T (p.Asn564=) rs201476040
NM_003242.6(TGFBR2):c.1698C>T (p.Thr566=) rs769447304
NM_003242.6(TGFBR2):c.195A>G (p.Lys65=)
NM_003242.6(TGFBR2):c.201C>T (p.Cys67=)
NM_003242.6(TGFBR2):c.210C>T (p.Asn70=) rs1405785027
NM_003242.6(TGFBR2):c.222C>T (p.Thr74=) rs112864356
NM_003242.6(TGFBR2):c.234G>A (p.Glu78=)
NM_003242.6(TGFBR2):c.237G>A (p.Lys79=)
NM_003242.6(TGFBR2):c.261A>G (p.Val87=) rs1266465311
NM_003242.6(TGFBR2):c.263+12T>A
NM_003242.6(TGFBR2):c.263+9G>A rs1223350512
NM_003242.6(TGFBR2):c.263+9G>C rs1223350512
NM_003242.6(TGFBR2):c.264-7A>G rs1001983657
NM_003242.6(TGFBR2):c.291A>G (p.Leu97=) rs374201843
NM_003242.6(TGFBR2):c.297A>G (p.Thr99=) rs727504343
NM_003242.6(TGFBR2):c.306T>C (p.His102=)
NM_003242.6(TGFBR2):c.33G>T (p.Pro11=) rs1575125895
NM_003242.6(TGFBR2):c.345T>C (p.Asp115=)
NM_003242.6(TGFBR2):c.354T>A (p.Ser118=)
NM_003242.6(TGFBR2):c.372G>A (p.Lys124=) rs1212599579
NM_003242.6(TGFBR2):c.378A>G (p.Lys126=) rs2125410377
NM_003242.6(TGFBR2):c.384G>A (p.Lys128=)
NM_003242.6(TGFBR2):c.402C>T (p.Phe134=) rs868049355
NM_003242.6(TGFBR2):c.411C>G (p.Ser137=)
NM_003242.6(TGFBR2):c.417C>T (p.Ser139=)
NM_003242.6(TGFBR2):c.429C>T (p.Cys143=) rs2125410658
NM_003242.6(TGFBR2):c.42C>A (p.Ile14=)
NM_003242.6(TGFBR2):c.444C>T (p.Ile148=)
NM_003242.6(TGFBR2):c.447C>T (p.Phe149=) rs1698861401
NM_003242.6(TGFBR2):c.450A>G (p.Ser150=)
NM_003242.6(TGFBR2):c.454+11T>C
NM_003242.6(TGFBR2):c.454+17_454+27del
NM_003242.6(TGFBR2):c.454+22del
NM_003242.6(TGFBR2):c.455-18G>A
NM_003242.6(TGFBR2):c.455-4T>C rs11466512
NM_003242.6(TGFBR2):c.455-5A>G rs747104789
NM_003242.6(TGFBR2):c.455-9C>T rs1699338104
NM_003242.6(TGFBR2):c.462C>T (p.Asn154=)
NM_003242.6(TGFBR2):c.464C>T (p.Thr155Ile) rs727504406
NM_003242.6(TGFBR2):c.465C>T (p.Thr155=)
NM_003242.6(TGFBR2):c.483G>A (p.Leu161=) rs2125433267
NM_003242.6(TGFBR2):c.501G>A (p.Val167=)
NM_003242.6(TGFBR2):c.516C>G (p.Leu172=) rs1301321642
NM_003242.6(TGFBR2):c.516C>T (p.Leu172=) rs1301321642
NM_003242.6(TGFBR2):c.517C>T (p.Leu173=)
NM_003242.6(TGFBR2):c.522A>G (p.Pro174=) rs760268589
NM_003242.6(TGFBR2):c.528G>A (p.Leu176=) rs1303407125
NM_003242.6(TGFBR2):c.537C>T (p.Ala179=)
NM_003242.6(TGFBR2):c.54G>A (p.Thr18=) rs139456857
NM_003242.6(TGFBR2):c.555C>T (p.Ile185=)
NM_003242.6(TGFBR2):c.576C>T (p.Asn192=) rs1270027856
NM_003242.6(TGFBR2):c.577C>A (p.Arg193=)
NM_003242.6(TGFBR2):c.642G>A (p.Glu214=) rs750009827
NM_003242.6(TGFBR2):c.693T>C (p.Cys231=)
NM_003242.6(TGFBR2):c.69G>C (p.Thr23=)
NM_003242.6(TGFBR2):c.721C>T (p.Leu241=) rs2125434109
NM_003242.6(TGFBR2):c.729C>A (p.Pro243=) rs1381757819
NM_003242.6(TGFBR2):c.741C>T (p.Asp247=)
NM_003242.6(TGFBR2):c.744C>G (p.Thr248=)
NM_003242.6(TGFBR2):c.750G>C (p.Val250=)
NM_003242.6(TGFBR2):c.753G>A (p.Gly251=)
NM_003242.6(TGFBR2):c.756A>G (p.Lys252=) rs1160016010
NM_003242.6(TGFBR2):c.786G>A (p.Lys262=)
NM_003242.6(TGFBR2):c.78G>A (p.Pro26=) rs753781287
NM_003242.6(TGFBR2):c.78G>T (p.Pro26=)
NM_003242.6(TGFBR2):c.801T>A (p.Thr267=)
NM_003242.6(TGFBR2):c.825A>G (p.Ala275=) rs2125434537
NM_003242.6(TGFBR2):c.837T>C (p.Phe279=)
NM_003242.6(TGFBR2):c.849G>A (p.Glu283=) rs1249816685
NM_003242.6(TGFBR2):c.855C>T (p.Ala285=)
NM_003242.6(TGFBR2):c.87G>A (p.Gln29=) rs1224678519
NM_003242.6(TGFBR2):c.897G>A (p.Leu299=) rs1699350239
NM_003242.6(TGFBR2):c.903T>C (p.His301=) rs1369484772
NM_003242.6(TGFBR2):c.906G>A (p.Glu302=)
NM_003242.6(TGFBR2):c.915C>G (p.Leu305=) rs146030104
NM_003242.6(TGFBR2):c.924G>A (p.Leu308=)
NM_003242.6(TGFBR2):c.924G>C (p.Leu308=)
NM_003242.6(TGFBR2):c.927G>C (p.Thr309=)
NM_003242.6(TGFBR2):c.930T>C (p.Ala310=) rs1341666511
NM_003242.6(TGFBR2):c.939G>T (p.Arg313=) rs1699351721
NM_003242.6(TGFBR2):c.94+12C>A
NM_003242.6(TGFBR2):c.94+12C>T
NM_003242.6(TGFBR2):c.94+16236G>A rs1409106424
NM_003242.6(TGFBR2):c.94+16256C>T rs143701368
NM_003242.6(TGFBR2):c.94+18C>T
NM_003242.6(TGFBR2):c.94+20G>T
NM_003242.6(TGFBR2):c.945G>A (p.Thr315=)
NM_003242.6(TGFBR2):c.948G>A (p.Glu316=) rs1699352075
NM_003242.6(TGFBR2):c.95-11T>C
NM_003242.6(TGFBR2):c.95-12C>G rs1473341075
NM_003242.6(TGFBR2):c.95-18A>T
NM_003242.6(TGFBR2):c.95-8C>G
NM_003242.6(TGFBR2):c.951G>A (p.Leu317=) rs2125435278
NM_003242.6(TGFBR2):c.954G>A (p.Gly318=)
NM_003242.6(TGFBR2):c.967C>T (p.Leu323=)
NM_003242.6(TGFBR2):c.978C>T (p.Ala326=) rs1575157891

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