List of variants reported as pathogenic for Hypercholesterolemia, familial, 1 by New York Genome Center

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr)	rs376459828	0.00004
NM_000527.5(LDLR):c.782G>T (p.Cys261Phe)	rs121908040	0.00001
NM_000527.5(LDLR):c.103C>T (p.Gln35Ter)	rs879254408
NM_000527.5(LDLR):c.1A>T (p.Met1Leu)	rs879254382
NM_000527.5(LDLR):c.253C>T (p.Gln85Ter)	rs875989893
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del)	rs121908027

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