ClinVar Miner

List of variants in gene IDUA studied for Mucopolysaccharidosis, MPS-I-S

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Total variants: 16
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HGVS dbSNP
NM_000203.5(IDUA):c.1049A>G (p.Asn350Ser) rs1577541140
NM_000203.5(IDUA):c.1360G>A (p.Val454Ile) rs73066479
NM_000203.5(IDUA):c.1402+36T>C rs115134980
NM_000203.5(IDUA):c.1475G>C (p.Arg492Pro) rs121965026
NM_000203.5(IDUA):c.1727+72T>G
NM_000203.5(IDUA):c.314G>A (p.Arg105Gln) rs3755955
NM_000203.5(IDUA):c.352C>T (p.Leu118=) rs3755954
NM_000203.5(IDUA):c.543T>C (p.Asn181=) rs6815946
NM_000203.5(IDUA):c.590-45G>C rs6829789
NM_000203.5(IDUA):c.590-7G>A rs762411583
NM_000203.5(IDUA):c.590-8C>T rs6848974
NM_000203.5(IDUA):c.701G>C (p.Ser234Thr) rs201826605
NM_000203.5(IDUA):c.891C>T (p.Asn297=) rs114806891
NM_000203.5(IDUA):c.942G>C (p.Ala314=) rs6830825
NM_000203.5(IDUA):c.972+48A>G rs6811373
NM_000203.5(IDUA):c.973-45G>C rs6831021

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