List of variants in gene combination IDUA, SLC26A1 reported as uncertain significance for Hurler syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000203.5(IDUA):c.227A>G (p.Tyr76Cys)	rs780165694	0.00001
NM_000203.5(IDUA):c.245A>C (p.His82Pro)	rs794727239	0.00001
NM_000203.5(IDUA):c.299G>A (p.Arg100Lys)	rs777698606	0.00001
NM_000203.4(IDUA):c.199A>T (p.Ser67Cys)	rs370442463
NM_000203.5(IDUA):c.156C>G (p.Phe52Leu)	rs1421520718
NM_000203.5(IDUA):c.299+1212del	rs1553915188
NM_000203.5(IDUA):c.34_45dup (p.Ala15_Ser16insAlaLeuLeuAla)	rs1553914754
NM_000203.5(IDUA):c.64C>T (p.Pro22Ser)	rs1001972534
NM_000203.5(IDUA):c.69_77del (p.Ala24_Ala26del)	rs1553914780

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