ClinVar Miner

List of variants in gene IDUA reported by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000203.5(IDUA):c.1883G>C (p.Arg628Pro) rs200448421 0.00001
NM_000203.5(IDUA):c.1096_1099del (p.Thr366fs) rs2153022399
NM_000203.5(IDUA):c.1192GAG[1] (p.Glu399del)
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro) rs121965027
NM_000203.5(IDUA):c.300-4092_300-2318del
NM_000203.5(IDUA):c.373C>T (p.Gln125Ter)
NM_000203.5(IDUA):c.784del (p.His262fs) rs757928590
NM_000203.5(IDUA):c.895G>T (p.Glu299Ter) rs1715120049

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