ClinVar Miner

List of variants in gene TGFBR2 reported as likely pathogenic

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Total variants: 35
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HGVS dbSNP
NM_003242.6(TGFBR2):c.1051G>C (p.Gly351Arg) rs1553630221
NM_003242.6(TGFBR2):c.1052G>A (p.Gly351Asp) rs869025537
NM_003242.6(TGFBR2):c.1066C>T (p.Arg356Trp) rs199660234
NM_003242.6(TGFBR2):c.1085A>G (p.His362Arg) rs863223842
NM_003242.6(TGFBR2):c.1120C>T (p.Pro374Ser) rs863223843
NM_003242.6(TGFBR2):c.1145G>A (p.Ser382Asn) rs863223844
NM_003242.6(TGFBR2):c.1151A>G (p.Asn384Ser) rs193922660
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.1259G>T (p.Gly420Val) rs1553630426
NM_003242.6(TGFBR2):c.1277C>T (p.Ala426Val) rs730880224
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.1382G>A (p.Cys461Tyr) rs587782979
NM_003242.6(TGFBR2):c.1408T>G (p.Tyr470Asp) rs863224935
NM_003242.6(TGFBR2):c.1446_1447del (p.Val484fs) rs1559472349
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter) rs104893819
NM_003242.6(TGFBR2):c.1495G>T (p.Glu499Ter) rs397516840
NM_003242.6(TGFBR2):c.1524+1G>A rs727503475
NM_003242.6(TGFBR2):c.1529del (p.Ile510fs) rs878854611
NM_003242.6(TGFBR2):c.1531C>T (p.Gln511Ter) rs1060501984
NM_003242.6(TGFBR2):c.1540T>C (p.Cys514Arg) rs193922664
NM_003242.6(TGFBR2):c.1546_1557del (p.Thr516_Glu519del) rs876658120
NM_003242.6(TGFBR2):c.1564G>A (p.Asp522Asn) rs863223854
NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn) rs727504421
NM_003242.6(TGFBR2):c.1580C>T (p.Ala527Val) rs727503476
NM_003242.6(TGFBR2):c.1591G>A (p.Ala531Thr) rs727503477
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.310C>T (p.Pro104Ser) rs193922665
NM_003242.6(TGFBR2):c.383del (p.Lys128fs) rs79375991
NM_003242.6(TGFBR2):c.757G>A (p.Gly253Ser) rs1559466824
NM_003242.6(TGFBR2):c.902A>G (p.His301Arg) rs863223857
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met) rs34833812
NM_003242.6(TGFBR2):c.998T>A (p.Leu333Gln) rs863223841

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