List of variants reported as likely pathogenic for Hurler-Scheie syndrome by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000203.5(IDUA):c.1096_1099del (p.Thr366fs)	rs2153022399
NM_000203.5(IDUA):c.1273del (p.His425fs)
NM_000203.5(IDUA):c.1853_1855del (p.Tyr618_Arg619delinsTer)
NM_000203.5(IDUA):c.606C>G (p.Tyr202Ter)	rs1033313360
NM_000203.5(IDUA):c.723C>A (p.Cys241Ter)

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