List of variants reported as pathogenic for Hypercholesterolemia, familial, 1 by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys)	rs774723292	0.00003
NM_000527.5(LDLR):c.1731G>T (p.Trp577Cys)	rs875989928
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.2027del (p.Gly676fs)	rs875989937
NM_000527.5(LDLR):c.2416del (p.Val806fs)	rs773618064
NM_000527.5(LDLR):c.542C>T (p.Pro181Leu)
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu)	rs121908028

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