ClinVar Miner

List of variants reported as uncertain significance for Mucopolysaccharidosis, MPS-III-B by Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000263.4(NAGLU):c.874G>A (p.Gly292Arg) rs1358994052 0.00001
NM_000263.4(NAGLU):c.1144G>T (p.Asp382Tyr) rs1599260473
NM_000263.4(NAGLU):c.1928G>A (p.Arg643His) rs104894593

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