List of variants in gene combination IDUA, SLC26A1 reported as pathogenic 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.208C>T (p.Gln70Ter)	rs121965020	0.00063
NM_000203.5(IDUA):c.152G>A (p.Gly51Asp)	rs794726877	0.00001
NM_000203.5(IDUA):c.223G>A (p.Ala75Thr)	rs758452450	0.00001
NM_000203.5(IDUA):c.266G>A (p.Arg89Gln)	rs121965029	0.00001
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro)	rs794726878	0.00001
NM_000203.5(IDUA):c.187C>T (p.Gln63Ter)	rs2153015621
NM_000203.5(IDUA):c.192C>A (p.Tyr64Ter)	rs121965022
NM_000203.5(IDUA):c.1A>C (p.Met1Leu)	rs1553914737
NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del)	rs398123260

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