ClinVar Miner

List of variants studied for Hurler syndrome by Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_000203.5(IDUA):c.1874A>G (p.Tyr625Cys) rs587779401

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