ClinVar Miner

List of variants studied for Hypercholesterolemia, familial, 1 by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) rs121908025 0.00001
NM_000527.5(LDLR):c.898A>G (p.Arg300Gly) rs767618089 0.00001
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
NM_000527.5(LDLR):c.1342C>T (p.Gln448Ter)
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
NM_000527.5(LDLR):c.440C>T (p.Thr147Ile) rs879254524
NM_000527.5(LDLR):c.589T>G (p.Cys197Gly) rs730882085

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