ClinVar Miner

List of variants studied for Aortic valve disease 3

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_019055.6(ROBO4):c.1985G>A (p.Gly662Asp) rs145067866 0.00297
NM_019055.6(ROBO4):c.691T>A (p.Tyr231Asn) rs149517154 0.00027
NM_019055.6(ROBO4):c.190C>T (p.Arg64Cys) rs201393279 0.00019
NM_019055.6(ROBO4):c.1471C>T (p.Arg491Cys) rs374471211 0.00010
NM_019055.6(ROBO4):c.1702C>T (p.Arg568Ter) rs201492213 0.00004
NM_019055.6(ROBO4):c.1146C>G (p.Tyr382Ter) rs2135378156
NM_019055.6(ROBO4):c.1678C>T (p.Arg560Cys)
NM_019055.6(ROBO4):c.184A>G (p.Thr62Ala)
NM_019055.6(ROBO4):c.1900C>T (p.Arg634Cys)
NM_019055.6(ROBO4):c.2056+1G>T rs764038221
NM_019055.6(ROBO4):c.2092C>A (p.Leu698Met)
NM_019055.6(ROBO4):c.2182C>T (p.Gln728Ter)
NM_019055.6(ROBO4):c.2758G>A (p.Gly920Ser)
NM_019055.6(ROBO4):c.746T>C (p.Leu249Pro)
NM_019055.6(ROBO4):c.980_981del (p.Ser327fs)

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