ClinVar Miner

List of variants studied for Mucopolysaccharidosis, MPS-I-H/S by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000203.5(IDUA):c.1898C>T (p.Ser633Leu) rs886043347 0.00001
NM_000203.5(IDUA):c.1096_1099del (p.Thr366fs) rs2153022399
NM_000203.5(IDUA):c.1273del (p.His425fs)
NM_000203.5(IDUA):c.606C>G (p.Tyr202Ter) rs1033313360

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