ClinVar Miner

List of variants reported as pathogenic for Hurler syndrome by Pathology and Clinical Laboratory Medicine, King Fahad Medical City

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000203.5(IDUA):c.1496_1497del (p.Glu499fs)	rs2153022799
NM_000203.5(IDUA):c.1868T>C (p.Leu623Pro)	rs2153023287
NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del)	rs398123260

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