ClinVar Miner

List of variants reported as likely pathogenic for Hurler syndrome by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000203.5(IDUA):c.544G>A (p.Glu182Lys)	rs754154200	0.00001
NM_000203.5(IDUA):c.1045_1047del (p.Asp349del)	rs1230096882
NM_000203.5(IDUA):c.1873T>G (p.Tyr625Asp)

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