ClinVar Miner

List of variants reported as likely pathogenic for Hypercholesterolemia, familial, 1 by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.1291G>C (p.Ala431Pro)	rs28942079
NM_000527.5(LDLR):c.1978C>T (p.Gln660Ter)	rs193922569
NM_000527.5(LDLR):c.362G>A (p.Cys121Tyr)	rs193922571

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