ClinVar Miner

List of variants reported as pathogenic for Mucopolysaccharidosis, MPS-II by Molecular Biology Laboratory, Department of Zoology, Quaid-i-azam University

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000202.8(IDS):c.1035G>T (p.Trp345Cys) rs2520785058
NM_000202.8(IDS):c.623T>A (p.Leu208Ter) rs2520863476

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