List of variants reported as likely pathogenic for Hypercholesterolemia, familial, 1 by Genetics and Molecular Pathology, SA Pathology

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.1277T>C (p.Leu426Pro)	rs879254851
NM_000527.5(LDLR):c.136T>G (p.Cys46Gly)	rs879254415
NM_000527.5(LDLR):c.463T>G (p.Cys155Gly)	rs879254535
NM_000527.5(LDLR):c.82G>T (p.Glu28Ter)	rs551747280
NM_000527.5(LDLR):c.938_939delinsAT (p.Cys313Tyr)	rs875989910

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