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

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys)	rs768563000	0.00004
NM_000527.5(LDLR):c.190+4A>T	rs769446356	0.00001
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys)	rs144172724	0.00001
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)

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