ClinVar Miner

List of variants studied for Hurler syndrome by 3billion

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro) rs121965027
NM_000203.5(IDUA):c.589+1G>T rs1293215555
NM_000203.5(IDUA):c.589G>A (p.Gly197Ser) rs2153021926

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