ClinVar Miner

List of variants in gene TGFBR2 reported by Invitae

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Gene type:
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Total variants: 102
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HGVS dbSNP
NM_001024847.2(TGFBR2):c.15_25dup (p.Leu9Argfs)
NM_001024847.2(TGFBR2):c.1732T>A (p.Ser578Thr) rs112215250
NM_003242.5(TGFBR2):c.1006T>G (p.Tyr336Asp) rs104893812
NM_003242.5(TGFBR2):c.1029C>T (p.Ser343=) rs1060504407
NM_003242.5(TGFBR2):c.1058C>T (p.Ser353Phe) rs1553630235
NM_003242.5(TGFBR2):c.1062C>T (p.Leu354=) rs113194608
NM_003242.5(TGFBR2):c.106A>G (p.Met36Val) rs17025864
NM_003242.5(TGFBR2):c.1116G>A (p.Lys372=) rs753782498
NM_003242.5(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192
NM_003242.5(TGFBR2):c.1125C>T (p.Ile375=) rs751663055
NM_003242.5(TGFBR2):c.1126G>A (p.Val376Met) rs755967723
NM_003242.5(TGFBR2):c.1130A>G (p.His377Arg) rs1553630274
NM_003242.5(TGFBR2):c.1135_1140delGACCTC (p.Asp379_Leu380del) rs1553630282
NM_003242.5(TGFBR2):c.1152T>A (p.Asn384Lys) rs193922661
NM_003242.5(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003242.5(TGFBR2):c.1159G>T (p.Val387Leu) rs35766612
NM_003242.5(TGFBR2):c.1163A>G (p.Lys388Arg) rs193922662
NM_003242.5(TGFBR2):c.116C>A (p.Thr39Asn) rs146277116
NM_003242.5(TGFBR2):c.1171C>T (p.Leu391=) rs779762218
NM_003242.5(TGFBR2):c.1181G>A (p.Cys394Tyr) rs1553630289
NM_003242.5(TGFBR2):c.1219A>G (p.Thr407Ala)
NM_003242.5(TGFBR2):c.1246A>G (p.Ser416Gly) rs1060501983
NM_003242.5(TGFBR2):c.1254+6T>A rs1026852885
NM_003242.5(TGFBR2):c.1259G>T (p.Gly420Val) rs1553630426
NM_003242.5(TGFBR2):c.1266A>G (p.Ala422=) rs2228047
NM_003242.5(TGFBR2):c.126C>T (p.Asn42=) rs574133875
NM_003242.5(TGFBR2):c.1271A>G (p.Tyr424Cys) rs878854610
NM_003242.5(TGFBR2):c.1273A>C (p.Met425Leu)
NM_003242.5(TGFBR2):c.1274T>C (p.Met425Thr) rs1553630438
NM_003242.5(TGFBR2):c.1334C>A (p.Thr445Asn) rs886038936
NM_003242.5(TGFBR2):c.1336G>A (p.Asp446Asn) rs886039551
NM_003242.5(TGFBR2):c.1346C>G (p.Ser449Cys) rs104893807
NM_003242.5(TGFBR2):c.1378C>T (p.Arg460Cys) rs104893811
NM_003242.5(TGFBR2):c.1379G>A (p.Arg460His) rs104893816
NM_003242.5(TGFBR2):c.1379G>T (p.Arg460Leu) rs104893816
NM_003242.5(TGFBR2):c.1397-1G>A rs1553631693
NM_003242.5(TGFBR2):c.1419A>G (p.Pro473=) rs1208454327
NM_003242.5(TGFBR2):c.1436G>A (p.Arg479Gln) rs1553631704
NM_003242.5(TGFBR2):c.1458C>T (p.Ser486=) rs139881155
NM_003242.5(TGFBR2):c.1459A>C (p.Met487Leu)
NM_003242.5(TGFBR2):c.1483C>T (p.Arg495Ter) rs104893819
NM_003242.5(TGFBR2):c.1489C>T (p.Arg497Ter) rs863223852
NM_003242.5(TGFBR2):c.1492C>G (p.Pro498Ala) rs1553631720
NM_003242.5(TGFBR2):c.151T>C (p.Cys51Arg)
NM_003242.5(TGFBR2):c.1524+10G>C rs377397188
NM_003242.5(TGFBR2):c.1524+7A>G rs1553631728
NM_003242.5(TGFBR2):c.1525-6C>G rs748388518
NM_003242.5(TGFBR2):c.1525-7G>A rs377499122
NM_003242.5(TGFBR2):c.1525-8C>T rs11466530
NM_003242.5(TGFBR2):c.1529delT (p.Ile510Thrfs) rs878854611
NM_003242.5(TGFBR2):c.1531C>T (p.Gln511Ter) rs1060501984
NM_003242.5(TGFBR2):c.1547C>T (p.Thr516Met) rs149847376
NM_003242.5(TGFBR2):c.1548G>A (p.Thr516=) rs140662877
NM_003242.5(TGFBR2):c.1563G>A (p.Trp521Ter) rs1553631968
NM_003242.5(TGFBR2):c.1564G>A (p.Asp522Asn) rs863223854
NM_003242.5(TGFBR2):c.1565A>C (p.Asp522Ala) rs886038768
NM_003242.5(TGFBR2):c.1569C>T (p.His523=) rs760107571
NM_003242.5(TGFBR2):c.1576G>C (p.Glu526Gln) rs121918714
NM_003242.5(TGFBR2):c.1582C>T (p.Arg528Cys) rs104893810
NM_003242.5(TGFBR2):c.1583G>A (p.Arg528His) rs104893815
NM_003242.5(TGFBR2):c.1602G>A (p.Val534=) rs140818646
NM_003242.5(TGFBR2):c.1609C>T (p.Arg537Cys) rs104893809
NM_003242.5(TGFBR2):c.1643C>T (p.Ser548Leu) rs755070814
NM_003242.5(TGFBR2):c.1697C>G (p.Thr566Ser)
NM_003242.5(TGFBR2):c.1701A>G (p.Lys567=) rs763371077
NM_003242.5(TGFBR2):c.175T>C (p.Ser59Pro)
NM_003242.5(TGFBR2):c.202A>C (p.Met68Leu) rs1060501985
NM_003242.5(TGFBR2):c.215G>A (p.Ser72Asn) rs764941621
NM_003242.5(TGFBR2):c.222C>T (p.Thr74=) rs112864356
NM_003242.5(TGFBR2):c.264-5T>G rs1315800025
NM_003242.5(TGFBR2):c.297A>G (p.Thr99=) rs727504343
NM_003242.5(TGFBR2):c.367A>T (p.Met123Leu) rs768385200
NM_003242.5(TGFBR2):c.372G>A (p.Lys124=) rs1212599579
NM_003242.5(TGFBR2):c.383delA (p.Lys128Serfs) rs79375991
NM_003242.5(TGFBR2):c.394A>G (p.Thr132Ala) rs146497045
NM_003242.5(TGFBR2):c.412T>G (p.Cys138Gly) rs863223838
NM_003242.5(TGFBR2):c.448T>C (p.Ser150Pro) rs1346274891
NM_003242.5(TGFBR2):c.4G>T (p.Gly2Cys) rs565502802
NM_003242.5(TGFBR2):c.500T>C (p.Val167Ala) rs779052721
NM_003242.5(TGFBR2):c.511A>G (p.Ser171Gly) rs767581059
NM_003242.5(TGFBR2):c.556T>A (p.Phe186Ile) rs368346624
NM_003242.5(TGFBR2):c.567C>T (p.Tyr189=) rs371221124
NM_003242.5(TGFBR2):c.571G>A (p.Val191Ile) rs56105708
NM_003242.5(TGFBR2):c.609C>T (p.Thr203=) rs769938385
NM_003242.5(TGFBR2):c.617C>T (p.Thr206Met) rs150022335
NM_003242.5(TGFBR2):c.645C>G (p.His215Gln) rs758827786
NM_003242.5(TGFBR2):c.659T>C (p.Leu220Pro) rs1553630112
NM_003242.5(TGFBR2):c.696C>T (p.Ala232=) rs768508812
NM_003242.5(TGFBR2):c.69G>T (p.Thr23=) rs878854612
NM_003242.5(TGFBR2):c.756A>G (p.Lys252=) rs1160016010
NM_003242.5(TGFBR2):c.75A>G (p.Pro25=) rs572435149
NM_003242.5(TGFBR2):c.760C>T (p.Arg254Cys) rs863223856
NM_003242.5(TGFBR2):c.832A>T (p.Ile278Phe)
NM_003242.5(TGFBR2):c.914T>G (p.Leu305Arg) rs1553630174
NM_003242.5(TGFBR2):c.938G>A (p.Arg313Gln)
NM_003242.5(TGFBR2):c.94+16238C>T rs149757320
NM_003242.5(TGFBR2):c.94+16263A>C rs200111443
NM_003242.5(TGFBR2):c.94+16278G>C rs557449314
NM_003242.5(TGFBR2):c.944C>T (p.Thr315Met) rs34833812
NM_003242.5(TGFBR2):c.95-3C>A rs375330013
NM_003242.5(TGFBR2):c.984C>T (p.His328=) rs193922666
NM_003242.5(TGFBR2):c.999A>G (p.Leu333=) rs2229102

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