ClinVar Miner

List of variants reported as likely pathogenic for aortic valve disease

Included ClinVar conditions (20):
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Total variants: 24
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HGVS dbSNP
NC_012920.1:m.8950G>A rs1556423574
NM_000192.3(TBX5):c.363-2A>G rs1565941072
NM_000501.3(ELN):c.1153del (p.Ala385Profs) rs727503031
NM_000501.4(ELN):c.1150+1G>A rs727503030
NM_000501.4(ELN):c.1733del (p.Pro578fs) rs727503782
NM_000501.4(ELN):c.1858G>T (p.Gly620Ter) rs727503034
NM_000501.4(ELN):c.2T>C (p.Met1Thr) rs863223518
NM_000501.4(ELN):c.470-37_470del rs1563793627
NM_000501.4(ELN):c.686-1G>A
NM_000501.4(ELN):c.741del (p.Thr248fs) rs727503026
NM_001942.4(DSG1):c.604G>T (p.Glu202Ter) rs1057518788
NM_015093.5(TAB2):c.1039C>T (p.Arg347Ter) rs1057518422
NM_017617.5(NOTCH1):c.2380del (p.Glu794fs) rs863224901
NM_019055.6(ROBO4):c.1233T>A (p.His411Gln) rs1565326476
NM_019055.6(ROBO4):c.1601_1614del (p.Gly534fs) rs755569942
NM_019055.6(ROBO4):c.1702C>T (p.Arg568Ter) rs201492213
NM_019055.6(ROBO4):c.1864G>C (p.Asp622His) rs138111911
NM_019055.6(ROBO4):c.190C>T (p.Arg64Cys) rs201393279
NM_019055.6(ROBO4):c.2056+1G>T rs764038221
NM_019055.6(ROBO4):c.2245_2246delinsCT (p.Ala749Leu) rs1565322176
NM_019055.6(ROBO4):c.283G>A (p.Ala95Thr) rs138370967
NM_019055.6(ROBO4):c.695C>T (p.Thr232Met) rs150700978
NM_019055.6(ROBO4):c.740T>C (p.Val247Ala) rs779392207
NM_019055.6(ROBO4):c.839A>C (p.Tyr280Ser) rs755747435

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