List of variants reported as pathogenic for Hurler-Scheie syndrome by OMIM

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000203.5(IDUA):c.266G>A (p.Arg89Gln)	rs121965029	0.00001
NM_000203.4(IDUA):c.1960T>G (p.Ter654Gly)	rs387906504
NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg)	rs121965033
NM_000203.5(IDUA):c.1091C>T (p.Thr364Met)	rs121965032
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro)	rs121965027
NM_000203.5(IDUA):c.1475G>C (p.Arg492Pro)	rs121965026
NM_000203.5(IDUA):c.1855C>G (p.Arg619Gly)	rs121965031
NM_000203.5(IDUA):c.300-3C>G	rs1226056948
NM_000203.5(IDUA):c.590-7G>A	rs762411583

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