List of variants reported as pathogenic for Familial hypercholesterolemia by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)	rs746118995	0.00003
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys)	rs768563000	0.00003
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)	rs121908043	0.00001
NM_000527.5(LDLR):c.190+4A>T	rs769446356	0.00001
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys)	rs144172724	0.00001
NM_000527.5(LDLR):c.325T>C (p.Cys109Arg)	rs140807148	0.00001
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)	rs752596535

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