List of variants in gene IDUA reported as not provided for Mucopolysaccharidosis type 1

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_000203.5(IDUA):c.1081G>A (p.Ala361Thr)	rs6831280	0.16782
NM_000203.5(IDUA):c.965T>A (p.Val322Glu)	rs76722191	0.00271
NM_000203.5(IDUA):c.667G>A (p.Asp223Asn)	rs183347428	0.00166
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter)	rs121965019	0.00086
NM_000203.5(IDUA):c.1757C>T (p.Ser586Phe)	rs187833337	0.00017
NM_000203.5(IDUA):c.787A>T (p.Arg263Trp)	rs201268637	0.00009
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro)	rs199801029	0.00008
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg)	rs121965021	0.00003
NM_000203.5(IDUA):c.1728-1G>C	rs1249951282	0.00001
NM_000203.4(IDUA):c.1960T>G (p.Ter654Gly)	rs387906504
NM_000203.5(IDUA):c.1029C>A (p.Tyr343Ter)	rs764196171
NM_000203.5(IDUA):c.1960T>C (p.Ter654Arg)	rs387906504
NM_000203.5(IDUA):c.590-7G>A	rs762411583
NM_000203.5(IDUA):c.613_617dup (p.Glu207fs)	rs786200915

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