ClinVar Miner

List of variants studied for Hurler syndrome by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter) rs121965031 0.00004
NM_000203.5(IDUA):c.1882C>T (p.Arg628Ter) rs756572099 0.00002
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.187C>T (p.Gln63Ter) rs2153015621
NM_000203.5(IDUA):c.300-4092_300-2318del
NM_000203.5(IDUA):c.373C>T (p.Gln125Ter)
NM_000203.5(IDUA):c.530T>G (p.Phe177Cys)
NM_000203.5(IDUA):c.784del (p.His262fs) rs757928590
NM_000203.5(IDUA):c.895G>T (p.Glu299Ter) rs1715120049

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