List of variants reported as pathogenic for Hypercholesterolemia, familial, 1 by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)	rs746118995	0.00003
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)	rs730882096	0.00002
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)	rs879254803	0.00001
NM_000527.5(LDLR):c.1342C>T (p.Gln448Ter)	rs879254871	0.00001
NM_000527.5(LDLR):c.898A>G (p.Arg300Gly)	rs767618089	0.00001
NM_000527.5(LDLR):c.2416dup (p.Val806fs)	rs773618064
NM_000527.5(LDLR):c.589T>G (p.Cys197Gly)	rs730882085

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