ClinVar Miner

List of variants studied for Hurler syndrome by Knight Diagnostic Laboratories, Oregon Health and Sciences University

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) rs121965019 0.00086
NM_000203.5(IDUA):c.1349C>A (p.Pro450His) rs895626490 0.00002

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