ClinVar Miner

List of variants studied for Hypercholesterolemia, familial, 1 by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) rs140241383

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