ClinVar Miner

List of variants reported as pathogenic for Mucopolysaccharidosis type 1 by Illumina Laboratory Services, Illumina

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Total variants: 3

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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.208C>T (p.Gln70Ter)	rs121965020	0.00063
NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del)	rs398123260

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