ClinVar Miner

List of variants reported as likely pathogenic for Hypercholesterolemia, familial, 1 by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser)	rs758194385	0.00001
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu)	rs121908028

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