ClinVar Miner

List of variants reported as likely benign by Department of Genetics of Metabolic Diseases, Institute of Medical & Molecular Genetics, Hospital Universitario Hospital La Paz

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.1261A>G (p.Ser421Gly) rs1600726484
NM_000527.5(LDLR):c.694G>T (p.Ala232Ser) rs72658857

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