ClinVar Miner

List of variants studied for Hurler syndrome by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000203.5(IDUA):c.1029C>A (p.Tyr343Ter) rs764196171
NM_000203.5(IDUA):c.523T>C (p.Trp175Arg) rs875989946
NM_000203.5(IDUA):c.612_615dup (p.Ser206fs) rs875989947

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