ClinVar Miner

List of variants reported as pathogenic for Familial hypercholesterolemia by Laboratory of Molecular Genetics, National Medical Research Center for Therapy and Preventive Medicine

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.986G>A (p.Cys329Tyr)	rs761954844	0.00003
NM_000527.5(LDLR):c.1048C>T (p.Arg350Ter)
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)

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