List of variants reported as pathogenic for Hurler syndrome by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter)	rs121965031	0.00004
NM_000203.5(IDUA):c.1882C>T (p.Arg628Ter)	rs756572099	0.00002
NM_000203.5(IDUA):c.1096_1099del (p.Thr366fs)	rs2153022399
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro)	rs121965027
NM_000203.5(IDUA):c.187C>T (p.Gln63Ter)	rs2153015621
NM_000203.5(IDUA):c.300-4092_300-2318del
NM_000203.5(IDUA):c.530T>G (p.Phe177Cys)
NM_000203.5(IDUA):c.784del (p.His262fs)	rs757928590
NM_000203.5(IDUA):c.895G>T (p.Glu299Ter)	rs1715120049

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