List of variants reported as pathogenic for Hypercholesterolemia, familial, 1 by Department of Genetics of Metabolic Diseases, Institute of Medical & Molecular Genetics, Hospital Universitario Hospital La Paz

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.1049G>A (p.Arg350Gln)	rs875989914	0.00002
NM_000527.5(LDLR):c.2138del (p.Thr713fs)	rs1257344396	0.00001
NM_000527.5(LDLR):c.1594T>A (p.Tyr532Asn)	rs1600732566
NM_000527.5(LDLR):c.518G>C (p.Cys173Ser)	rs879254560
NM_000527.5(LDLR):c.684G>T (p.Glu228Asp)	rs1208216597
NM_000527.5(LDLR):c.926C>A (p.Pro309His)	rs1600715567

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