ClinVar Miner

List of variants in gene NAGLU reported as likely pathogenic by Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova

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Total variants: 4
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NM_000263.4(NAGLU):c.1241A>G (p.His414Arg) rs768814260
NM_000263.4(NAGLU):c.230T>G (p.Val77Gly)
NM_000263.4(NAGLU):c.274T>C (p.Tyr92His) rs1555621454
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys) rs753520553

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