ClinVar Miner

List of variants in gene IDUA reported as pathogenic for Mucopolysaccharidosis, MPS-I-S; Hurler syndrome; Mucopolysaccharidosis, MPS-I-H/S

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) rs121965019 0.00086
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) rs121965021 0.00003
NM_000203.5(IDUA):c.1614del (p.His539fs) rs727503967 0.00003
NM_000203.5(IDUA):c.1898C>T (p.Ser633Leu) rs886043347 0.00001
NM_000203.5(IDUA):c.653T>C (p.Leu218Pro) rs869025584 0.00001
NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter) rs121965025
NM_000203.5(IDUA):c.1877G>A (p.Trp626Ter) rs1456090810
NM_000203.5(IDUA):c.784del (p.His262fs) rs757928590

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