ClinVar Miner

List of variants reported as pathogenic for Aortic valve disease 2 by OMIM

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_005585.5(SMAD6):c.1168_1173dup (p.Gly390_Ile391dup) rs1595804976
NM_005585.5(SMAD6):c.1244C>T (p.Pro415Leu) rs387907284
NM_005585.5(SMAD6):c.1451G>T (p.Cys484Phe) rs387907283
NM_005585.5(SMAD6):c.42G>A (p.Trp14Ter) rs1246889300
NM_005585.5(SMAD6):c.794del (p.His265fs) rs1567092071

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