ClinVar Miner

List of variants reported as pathogenic for Hypercholesterolemia, familial, 1 by Provincial Medical Genetics Program of British Columbia, University of British Columbia

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
FH Aarhus
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu)	rs11547917

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