ClinVar Miner

List of variants in gene TGFBR2 reported as likely pathogenic for Familial thoracic aortic aneurysm and aortic dissection

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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_003242.6(TGFBR2):c.412T>G (p.Cys138Gly) rs863223838 0.00001
NM_003242.6(TGFBR2):c.761G>A (p.Arg254His) rs751948498 0.00001
NM_003242.6(TGFBR2):c.95-2A>G rs779131465 0.00001
NM_003242.6(TGFBR2):c.1007A>C (p.Tyr336Ser)
NM_003242.6(TGFBR2):c.1052G>A (p.Gly351Asp) rs869025537
NM_003242.6(TGFBR2):c.1063G>C (p.Ala355Pro) rs104893813
NM_003242.6(TGFBR2):c.1066C>T (p.Arg356Trp) rs199660234
NM_003242.6(TGFBR2):c.1130A>C (p.His377Pro)
NM_003242.6(TGFBR2):c.1134G>C (p.Arg378Ser) rs1575158079
NM_003242.6(TGFBR2):c.1152T>A (p.Asn384Lys) rs193922661
NM_003242.6(TGFBR2):c.1168G>A (p.Asp390Asn) rs2125436704
NM_003242.6(TGFBR2):c.1168G>T (p.Asp390Tyr)
NM_003242.6(TGFBR2):c.1181G>A (p.Cys394Tyr) rs1553630289
NM_003242.6(TGFBR2):c.1184T>C (p.Leu395Pro)
NM_003242.6(TGFBR2):c.1187G>A (p.Cys396Tyr)
NM_003242.6(TGFBR2):c.1189G>A (p.Asp397Asn) rs863223845
NM_003242.6(TGFBR2):c.1240G>A (p.Ala414Thr)
NM_003242.6(TGFBR2):c.1240G>C (p.Ala414Pro) rs2125437095
NM_003242.6(TGFBR2):c.1255G>C (p.Val419Leu)
NM_003242.6(TGFBR2):c.1255G>T (p.Val419Leu) rs863223847
NM_003242.6(TGFBR2):c.1259G>T (p.Gly420Val) rs1553630426
NM_003242.6(TGFBR2):c.1275G>A (p.Met425Ile)
NM_003242.6(TGFBR2):c.1298G>C (p.Arg433Thr) rs1699392675
NM_003242.6(TGFBR2):c.1314T>G (p.Asn438Lys) rs772490613
NM_003242.6(TGFBR2):c.1324T>C (p.Phe442Leu) rs2125439063
NM_003242.6(TGFBR2):c.1343A>G (p.Tyr448Cys)
NM_003242.6(TGFBR2):c.1378C>G (p.Arg460Gly) rs104893811
NM_003242.6(TGFBR2):c.1446_1447del (p.Val484fs) rs1559472349
NM_003242.6(TGFBR2):c.1510T>C (p.Trp504Arg) rs1575165264
NM_003242.6(TGFBR2):c.1512G>A (p.Trp504Ter) rs1575165272
NM_003242.6(TGFBR2):c.1512G>C (p.Trp504Cys)
NM_003242.6(TGFBR2):c.1524+2T>C
NM_003242.6(TGFBR2):c.1525-1G>A rs1699706945
NM_003242.6(TGFBR2):c.1526G>T (p.Gly509Val) rs863223853
NM_003242.6(TGFBR2):c.1529del (p.Ile510fs) rs878854611
NM_003242.6(TGFBR2):c.1531C>T (p.Gln511Ter) rs1060501984
NM_003242.6(TGFBR2):c.1555G>A (p.Glu519Lys) rs2125455181
NM_003242.6(TGFBR2):c.1563G>A (p.Trp521Ter) rs1553631968
NM_003242.6(TGFBR2):c.1564G>A (p.Asp522Asn) rs863223854
NM_003242.6(TGFBR2):c.1576G>A (p.Glu526Lys) rs121918714
NM_003242.6(TGFBR2):c.1579G>A (p.Ala527Thr) rs2125455285
NM_003242.6(TGFBR2):c.1580C>T (p.Ala527Val) rs727503476
NM_003242.6(TGFBR2):c.1589C>T (p.Thr530Ile)
NM_003242.6(TGFBR2):c.1591G>A (p.Ala531Thr) rs727503477
NM_003242.6(TGFBR2):c.1597T>C (p.Cys533Arg)
NM_003242.6(TGFBR2):c.1598G>A (p.Cys533Tyr)
NM_003242.6(TGFBR2):c.1599T>A (p.Cys533Ter)
NM_003242.6(TGFBR2):c.1603del (p.Ala535fs) rs1699709401
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.760C>T (p.Arg254Cys) rs863223856
NM_003242.6(TGFBR2):c.902A>G (p.His301Arg) rs863223857
NM_003242.6(TGFBR2):c.914T>A (p.Leu305His) rs1553630174
NM_003242.6(TGFBR2):c.914T>C (p.Leu305Pro)

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