List of variants studied for Hypercholesterolemia, familial, 1 by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.-8C>A	rs2147186383
NM_000527.5(LDLR):c.1186+1G>T	rs730880131
NM_000527.5(LDLR):c.1688_1695del (p.Pro563fs)	rs2077460968
NM_000527.5(LDLR):c.1691A>C (p.Asn564Thr)	rs758194385
NM_000527.5(LDLR):c.1756T>C (p.Ser586Pro)	rs2147257524
NM_000527.5(LDLR):c.2022dup (p.Gly675fs)	rs2147265977
NM_000527.5(LDLR):c.203G>T (p.Cys68Phe)	rs2077229853
NM_000527.5(LDLR):c.320_332del (p.Lys107fs)
NM_000527.5(LDLR):c.325T>G (p.Cys109Gly)	rs140807148
NM_000527.5(LDLR):c.382T>G (p.Cys128Gly)	rs879254505
NM_000527.5(LDLR):c.401G>C (p.Cys134Ser)	rs879254514
NM_000527.5(LDLR):c.413C>A (p.Ser138Ter)	rs755799528
NM_000527.5(LDLR):c.616A>C (p.Ser206Arg)	rs2077277985
NM_000527.5(LDLR):c.940+3_940+6del	rs2077315885

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