ClinVar Miner

List of variants reported as likely benign for Hypercholesterolemia, familial, 1 by Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.1538G>A (p.Arg513Lys) rs879254934 0.00009
NM_000527.4(LDLR):c.-120C>T rs875989886 0.00001
NM_000527.5(LDLR):c.1715G>A (p.Ser572Asn) rs879254997
NM_000527.5(LDLR):c.1816G>A (p.Ala606Thr) rs72658865
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)

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