List of variants in gene IDUA reported as uncertain significance for Hurler-Scheie syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000203.5(IDUA):c.701G>C (p.Ser234Thr)	rs201826605	0.00080
NM_000203.5(IDUA):c.494G>A (p.Gly165Asp)	rs150763745	0.00043
NM_000203.5(IDUA):c.806C>G (p.Ser269Cys)	rs202051939	0.00025
NM_000203.5(IDUA):c.1861C>G (p.Arg621Gly)	rs121965025	0.00013
NM_000203.5(IDUA):c.340C>A (p.Leu114Met)	rs372934646	0.00004
NM_000203.5(IDUA):c.1270G>A (p.Ala424Thr)	rs752725918	0.00003
NM_000203.5(IDUA):c.600C>G (p.Asn200Lys)	rs763375487	0.00001
NM_000203.5(IDUA):c.1049A>G (p.Asn350Ser)	rs1577541140
NM_000203.5(IDUA):c.1130C>T (p.Pro377Leu)
NM_000203.5(IDUA):c.1478C>G (p.Pro493Arg)	rs375819348
NM_000203.5(IDUA):c.1655C>T (p.Thr552Met)
NM_000203.5(IDUA):c.792G>A (p.Lys264=)

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