ClinVar Miner

List of variants in gene TGFBR2 reported by GeneDx

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Gene type:
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Total variants: 120
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HGVS dbSNP
GRCh38/hg38 3p24.1(chr3:30634639-30638613)x1
NM_001024847.2(TGFBR2):c.111C>T (p.Ala37=) rs149757320
NM_001024847.2(TGFBR2):c.118G>A (p.Asp40Asn) rs61732532
NM_001024847.2(TGFBR2):c.133C>G (p.Pro45Ala) rs113474008
NM_001024847.2(TGFBR2):c.136A>C (p.Ser46Arg) rs200111443
NM_001024847.2(TGFBR2):c.146G>A (p.Arg49Lys) rs781529108
NM_001024847.2(TGFBR2):c.166C>A (p.His56Asn) rs138262219
NM_003242.5(TGFBR2):c.454+17_454+47del31ins22
NM_003242.6(TGFBR2):c.-128C>G rs2306856
NM_003242.6(TGFBR2):c.-27G>C rs1469986980
NM_003242.6(TGFBR2):c.-31G>A rs767154664
NM_003242.6(TGFBR2):c.1014G>A (p.Thr338=) rs764720370
NM_003242.6(TGFBR2):c.1016G>T (p.Arg339Leu) rs727503473
NM_003242.6(TGFBR2):c.1043G>A (p.Arg348His) rs369450067
NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=) rs113194608
NM_003242.6(TGFBR2):c.1063G>A (p.Ala355Thr) rs104893813
NM_003242.6(TGFBR2):c.1066C>G (p.Arg356Gly) rs199660234
NM_003242.6(TGFBR2):c.1066C>T (p.Arg356Trp) rs199660234
NM_003242.6(TGFBR2):c.106A>G (p.Met36Val) rs17025864
NM_003242.6(TGFBR2):c.1085A>G (p.His362Arg) rs863223842
NM_003242.6(TGFBR2):c.1092T>C (p.Asp364=) rs149195553
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192
NM_003242.6(TGFBR2):c.1120C>T (p.Pro374Ser) rs863223843
NM_003242.6(TGFBR2):c.1121C>T (p.Pro374Leu) rs1057524399
NM_003242.6(TGFBR2):c.1125C>T (p.Ile375=) rs751663055
NM_003242.6(TGFBR2):c.1128G>A (p.Val376=) rs1057523953
NM_003242.6(TGFBR2):c.1145G>A (p.Ser382Asn) rs863223844
NM_003242.6(TGFBR2):c.1158C>T (p.Leu386=) rs757158964
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu) rs35766612
NM_003242.6(TGFBR2):c.115A>T (p.Thr39Ser) rs780280433
NM_003242.6(TGFBR2):c.1167C>T (p.Asn389=) rs2228048
NM_003242.6(TGFBR2):c.1185G>C (p.Leu395=) rs193922663
NM_003242.6(TGFBR2):c.1190A>G (p.Asp397Gly) rs863223846
NM_003242.6(TGFBR2):c.1208G>A (p.Arg403His) rs143095746
NM_003242.6(TGFBR2):c.1217C>T (p.Pro406Leu) rs748480163
NM_003242.6(TGFBR2):c.1254+12C>T rs763098114
NM_003242.6(TGFBR2):c.1254+8A>G rs200630803
NM_003242.6(TGFBR2):c.1255G>T (p.Val419Leu) rs863223847
NM_003242.6(TGFBR2):c.1256T>A (p.Val419Glu) rs863223848
NM_003242.6(TGFBR2):c.1266A>G (p.Ala422=) rs2228047
NM_003242.6(TGFBR2):c.1276G>A (p.Ala426Thr) rs863223849
NM_003242.6(TGFBR2):c.1277C>A (p.Ala426Asp) rs730880224
NM_003242.6(TGFBR2):c.1279C>T (p.Pro427Ser) rs863223850
NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn) rs886039551
NM_003242.6(TGFBR2):c.1338T>G (p.Asp446Glu) rs863223851
NM_003242.6(TGFBR2):c.136A>T (p.Lys46Ter) rs1553627148
NM_003242.6(TGFBR2):c.1378C>T (p.Arg460Cys) rs104893811
NM_003242.6(TGFBR2):c.1379G>A (p.Arg460His) rs104893816
NM_003242.6(TGFBR2):c.1397-116G>A
NM_003242.6(TGFBR2):c.1397-140A>C
NM_003242.6(TGFBR2):c.1397-240G>A
NM_003242.6(TGFBR2):c.1410T>G (p.Tyr470Ter) rs1553631696
NM_003242.6(TGFBR2):c.1418C>T (p.Pro473Leu) rs397516839
NM_003242.6(TGFBR2):c.1452C>T (p.Val484=) rs185502982
NM_003242.6(TGFBR2):c.1458C>T (p.Ser486=) rs139881155
NM_003242.6(TGFBR2):c.1464G>A (p.Lys488=) rs753282415
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter) rs104893819
NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter) rs863223852
NM_003242.6(TGFBR2):c.1524+10G>C rs377397188
NM_003242.6(TGFBR2):c.1524+230C>G
NM_003242.6(TGFBR2):c.1525-11del rs1064795299
NM_003242.6(TGFBR2):c.1525-5T>C rs770896804
NM_003242.6(TGFBR2):c.1525-6C>G rs748388518
NM_003242.6(TGFBR2):c.1525-7G>A rs377499122
NM_003242.6(TGFBR2):c.1525-8C>T rs11466530
NM_003242.6(TGFBR2):c.1526G>T (p.Gly509Val) rs863223853
NM_003242.6(TGFBR2):c.1546A>T (p.Thr516Ser) rs370708687
NM_003242.6(TGFBR2):c.1548G>A (p.Thr516=) rs140662877
NM_003242.6(TGFBR2):c.1564G>A (p.Asp522Asn) rs863223854
NM_003242.6(TGFBR2):c.1569C>T (p.His523=) rs760107571
NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn) rs727504421
NM_003242.6(TGFBR2):c.1582C>T (p.Arg528Cys) rs104893810
NM_003242.6(TGFBR2):c.1583G>A (p.Arg528His) rs104893815
NM_003242.6(TGFBR2):c.1602G>A (p.Val534=) rs140818646
NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys) rs104893809
NM_003242.6(TGFBR2):c.1610G>A (p.Arg537His) rs1057524810
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr) rs112215250
NM_003242.6(TGFBR2):c.263+17A>C rs34771516
NM_003242.6(TGFBR2):c.263+7A>G rs1155705
NM_003242.6(TGFBR2):c.263+7_263+9delinsGAC rs1064794518
NM_003242.6(TGFBR2):c.264-289G>A
NM_003242.6(TGFBR2):c.264-35T>G rs11466495
NM_003242.6(TGFBR2):c.296C>T (p.Thr99Ile) rs863223837
NM_003242.6(TGFBR2):c.326A>T (p.His109Leu) rs1553627759
NM_003242.6(TGFBR2):c.367A>T (p.Met123Leu) rs768385200
NM_003242.6(TGFBR2):c.412T>G (p.Cys138Gly) rs863223838
NM_003242.6(TGFBR2):c.437A>G (p.Asn146Ser) rs863223836
NM_003242.6(TGFBR2):c.454+267T>C
NM_003242.6(TGFBR2):c.454+74A>G
NM_003242.6(TGFBR2):c.454G>A (p.Glu152Lys) rs778675253
NM_003242.6(TGFBR2):c.455-2del rs863223855
NM_003242.6(TGFBR2):c.455-303A>C
NM_003242.6(TGFBR2):c.455-4T>A rs11466512
NM_003242.6(TGFBR2):c.455-4T>C rs11466512
NM_003242.6(TGFBR2):c.533T>A (p.Val178Asp) rs1553630079
NM_003242.6(TGFBR2):c.551T>A (p.Ile184Asn) rs863223839
NM_003242.6(TGFBR2):c.556T>A (p.Phe186Ile) rs368346624
NM_003242.6(TGFBR2):c.571G>A (p.Val191Ile) rs56105708
NM_003242.6(TGFBR2):c.617C>T (p.Thr206Met) rs150022335
NM_003242.6(TGFBR2):c.639C>T (p.Ser213=) rs200332401
NM_003242.6(TGFBR2):c.690G>A (p.Thr230=) rs201560560
NM_003242.6(TGFBR2):c.701A>T (p.Asn234Ile) rs863223840
NM_003242.6(TGFBR2):c.760C>T (p.Arg254Cys) rs863223856
NM_003242.6(TGFBR2):c.81C>T (p.His27=) rs1057520957
NM_003242.6(TGFBR2):c.845_853del (p.Glu282_Tyr284del) rs1085307498
NM_003242.6(TGFBR2):c.902A>G (p.His301Arg) rs863223857
NM_003242.6(TGFBR2):c.913C>T (p.Leu305Phe) rs1553630171
NM_003242.6(TGFBR2):c.915C>T (p.Leu305=) rs146030104
NM_003242.6(TGFBR2):c.933G>A (p.Glu311=) rs754003334
NM_003242.6(TGFBR2):c.94+16202A>G rs375610471
NM_003242.6(TGFBR2):c.94+16308T>C rs770994456
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met) rs34833812
NM_003242.6(TGFBR2):c.95-20A>G rs371326218
NM_003242.6(TGFBR2):c.95-3C>A rs375330013
NM_003242.6(TGFBR2):c.964T>G (p.Trp322Gly) rs863223858
NM_003242.6(TGFBR2):c.984C>T (p.His328=) rs193922666
NM_003242.6(TGFBR2):c.985G>A (p.Ala329Thr) rs148665451
NM_003242.6(TGFBR2):c.998T>A (p.Leu333Gln) rs863223841
NM_003242.6(TGFBR2):c.999A>G (p.Leu333=) rs2229102

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