ClinVar Miner

List of variants studied for Hurler syndrome by Baylor Genetics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) rs121965021 0.00003
NM_000203.5(IDUA):c.1206G>A (p.Trp402Ter) rs991612107
NM_000203.5(IDUA):c.1477C>A (p.Pro493Thr) rs894585162
NM_000203.5(IDUA):c.525G>A (p.Trp175Ter) rs776305028

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