ClinVar Miner

List of variants studied for Hurler syndrome by Johns Hopkins Genomics, Johns Hopkins University

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro)	rs199801029	0.00008
NM_000203.5(IDUA):c.876del (p.Asp292fs)	rs1553917209

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