ClinVar Miner

List of variants reported as pathogenic for Hypercholesterolemia, familial, 1 by Laboratory of Human Molecular Genetics, Petersburg Nuclear Physics Institute named by B.P.Konstantinov of NRC "Kurchatov Institute"

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.1186G>C (p.Gly396Arg)	rs879254820
NM_000527.5(LDLR):c.433dup (p.Val145fs)	rs2077271255

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