ClinVar Miner

List of variants reported as pathogenic for Hypercholesterolemia, familial, 1 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000527.4(LDLR):c.313+1G>A
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
NM_000527.5(LDLR):c.304C>T (p.Gln102Ter)	rs563390335
NM_000527.5(LDLR):c.500G>A (p.Cys167Tyr)	rs879254548

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