ClinVar Miner

List of variants reported as likely pathogenic for Dilatation of ascending aorta; Bicuspid aortic valve

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Total variants: 11
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HGVS dbSNP
NM_001301088.1(ROBO4):c.1621+1G>T rs764038221
NM_019055.5(ROBO4):c.1233T>A (p.His411Gln)
NM_019055.5(ROBO4):c.1601_1614del (p.Gly534Glufs)
NM_019055.5(ROBO4):c.1702C>T (p.Arg568Ter) rs201492213
NM_019055.5(ROBO4):c.1864G>C (p.Asp622His) rs138111911
NM_019055.5(ROBO4):c.190C>T (p.Arg64Cys) rs201393279
NM_019055.5(ROBO4):c.2245_2246delGCinsCT (p.Ala749Leu)
NM_019055.5(ROBO4):c.283G>A (p.Ala95Thr) rs138370967
NM_019055.5(ROBO4):c.695C>T (p.Thr232Met) rs150700978
NM_019055.5(ROBO4):c.740T>C (p.Val247Ala) rs779392207
NM_019055.5(ROBO4):c.839A>C (p.Tyr280Ser) rs755747435

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