ClinVar Miner

List of variants reported as likely pathogenic for Mucopolysaccharidosis type 1

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Total variants: 39
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HGVS dbSNP
NM_000203.5(IDUA):c.1039A>C (p.Ser347Arg)
NM_000203.5(IDUA):c.1045G>A (p.Asp349Asn) rs368454909
NM_000203.5(IDUA):c.1045G>T (p.Asp349Tyr) rs368454909
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys) rs794727896
NM_000203.5(IDUA):c.1330GAC[1] (p.Asp445del)
NM_000203.5(IDUA):c.1395del (p.Gly466fs)
NM_000203.5(IDUA):c.1403-1G>T rs4690223
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro) rs121965027
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg) rs772416503
NM_000203.5(IDUA):c.1524+1G>A
NM_000203.5(IDUA):c.1525-11_1536del
NM_000203.5(IDUA):c.158+1G>A rs1264013707
NM_000203.5(IDUA):c.159-2A>C
NM_000203.5(IDUA):c.159-2A>G
NM_000203.5(IDUA):c.1598C>T (p.Pro533Leu) rs121965021
NM_000203.5(IDUA):c.1651-2A>G
NM_000203.5(IDUA):c.1727+1G>A rs1577544451
NM_000203.5(IDUA):c.1728-1G>A rs1249951282
NM_000203.5(IDUA):c.1829-1G>A rs745915863
NM_000203.5(IDUA):c.1829-2A>G rs1553917733
NM_000203.5(IDUA):c.1858G>T (p.Val620Phe)
NM_000203.5(IDUA):c.1893del (p.Phe632fs) rs1553917754
NM_000203.5(IDUA):c.1897del (p.Ser633fs) rs1553917756
NM_000203.5(IDUA):c.1898C>G (p.Ser633Trp) rs886043347
NM_000203.5(IDUA):c.1907_1917del (p.Val636fs)
NM_000203.5(IDUA):c.299+1G>T rs398123259
NM_000203.5(IDUA):c.299_299+1delinsAT
NM_000203.5(IDUA):c.398_403del (p.Met133_Gly134del) rs774605197
NM_000203.5(IDUA):c.457A>T (p.Lys153Ter)
NM_000203.5(IDUA):c.512_513del (p.His171fs)
NM_000203.5(IDUA):c.536C>G (p.Thr179Arg) rs776098539
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) rs794726878
NM_000203.5(IDUA):c.590-2A>G
NM_000203.5(IDUA):c.590-7G>A rs762411583
NM_000203.5(IDUA):c.60_61delinsA (p.Pro22fs) rs1553914762
NM_000203.5(IDUA):c.65del (p.Pro22fs)
NM_000203.5(IDUA):c.793G>C (p.Gly265Arg) rs369090960
NM_000203.5(IDUA):c.904C>A (p.Pro302Thr)
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) rs199801029

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