List of variants reported as pathogenic for Hurler-Scheie syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter)	rs121965019	0.00086
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter)	rs121965020	0.00063
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro)	rs199801029	0.00008
NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter)	rs121965031	0.00004
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg)	rs121965021	0.00003
NM_000203.5(IDUA):c.1614del (p.His539fs)	rs727503967	0.00003
NM_000203.5(IDUA):c.1139A>G (p.Gln380Arg)	rs762903007	0.00001
NM_000203.5(IDUA):c.152G>A (p.Gly51Asp)	rs794726877	0.00001
NM_000203.5(IDUA):c.1898C>T (p.Ser633Leu)	rs886043347	0.00001
NM_000203.5(IDUA):c.265C>T (p.Arg89Trp)	rs754966840	0.00001
NM_000203.5(IDUA):c.266G>A (p.Arg89Gln)	rs121965029	0.00001
NM_000203.5(IDUA):c.386-2A>G	rs777295041	0.00001
NM_000203.5(IDUA):c.653T>C (p.Leu218Pro)	rs869025584	0.00001
NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg)	rs121965033
NM_000203.5(IDUA):c.1190-10C>A	rs1443642527
NM_000203.5(IDUA):c.1264del (p.Ala422fs)
NM_000203.5(IDUA):c.1269C>A (p.Ser423Arg)	rs931627770
NM_000203.5(IDUA):c.164dup (p.Leu56fs)	rs727503966
NM_000203.5(IDUA):c.1743C>A (p.Tyr581Ter)
NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter)	rs121965025
NM_000203.5(IDUA):c.1877G>A (p.Trp626Ter)	rs1456090810
NM_000203.5(IDUA):c.2T>C (p.Met1Thr)	rs753767675
NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del)	rs398123260
NM_000203.5(IDUA):c.532G>A (p.Glu178Lys)
NM_000203.5(IDUA):c.603C>G (p.Tyr201Ter)	rs766574778
NM_000203.5(IDUA):c.606C>A (p.Tyr202Ter)	rs1033313360
NM_000203.5(IDUA):c.784del (p.His262fs)	rs757928590
NM_000203.5(IDUA):c.826G>A (p.Glu276Lys)
NM_000203.5(IDUA):c.878_889dup (p.Thr293_Tyr296dup)	rs779762183

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