List of variants reported as likely pathogenic for Familial hypercholesterolemia by Natera, Inc.

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys)	rs368657165	0.00003
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro)	rs730882098	0.00001
NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr)	rs730882099	0.00001
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met)	rs368562025	0.00001
NM_000527.5(LDLR):c.1502C>T (p.Ala501Val)	rs755667663	0.00001
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser)	rs758194385	0.00001
NM_000527.5(LDLR):c.1898G>A (p.Arg633His)	rs754536745	0.00001
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys)	rs769383881	0.00001
NM_000527.5(LDLR):c.1235T>C (p.Met412Thr)	rs879254842
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
NM_000527.5(LDLR):c.1586+5G>C	rs781362878
NM_000527.5(LDLR):c.2546C>A (p.Ser849Ter)	rs377437226
NM_000527.5(LDLR):c.362G>A (p.Cys121Tyr)	rs193922571
NM_000527.5(LDLR):c.859G>T (p.Gly287Cys)	rs375495026
NM_015627.3(LDLRAP1):c.533-1G>A	rs762148512

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