ClinVar Miner

List of variants studied for Hurler syndrome by Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000203.5(IDUA):c.1139A>G (p.Gln380Arg)	rs762903007	0.00001
NM_000203.5(IDUA):c.326_331del (p.Tyr109_Asn110del)	rs1470115977

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