ClinVar Miner

List of variants reported as pathogenic for Mucopolysaccharidosis type 1 by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) rs121965019 0.00086
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020 0.00063
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) rs199801029 0.00008
NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter) rs121965031 0.00004
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) rs121965021 0.00003
NM_000203.5(IDUA):c.1614del (p.His539fs) rs727503967 0.00003
NM_000203.5(IDUA):c.1743C>G (p.Tyr581Ter) rs776787370 0.00002
NM_000203.5(IDUA):c.1882C>T (p.Arg628Ter) rs756572099 0.00002
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys) rs794727896 0.00001
NM_000203.5(IDUA):c.1163C>G (p.Thr388Arg) rs794727896 0.00001
NM_000203.5(IDUA):c.1198C>T (p.Gln400Ter) rs1354690186 0.00001
NM_000203.5(IDUA):c.1402+1G>T rs398123254 0.00001
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg) rs772416503 0.00001
NM_000203.5(IDUA):c.152G>A (p.Gly51Asp) rs794726877 0.00001
NM_000203.5(IDUA):c.223G>A (p.Ala75Thr) rs758452450 0.00001
NM_000203.5(IDUA):c.265C>T (p.Arg89Trp) rs754966840 0.00001
NM_000203.5(IDUA):c.266G>A (p.Arg89Gln) rs121965029 0.00001
NM_000203.5(IDUA):c.386-2A>G rs777295041 0.00001
NM_000203.5(IDUA):c.623G>A (p.Gly208Asp) rs1430681871 0.00001
NM_000203.5(IDUA):c.1091C>T (p.Thr364Met) rs121965032
NM_000203.5(IDUA):c.1210G>T (p.Glu404Ter) rs1340421020
NM_000203.5(IDUA):c.1227dup (p.Thr410fs) rs1715179164
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro) rs121965027
NM_000203.5(IDUA):c.164dup (p.Leu56fs) rs727503966
NM_000203.5(IDUA):c.1799del (p.Pro599_Ser600insTer) rs398123258
NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter) rs121965025
NM_000203.5(IDUA):c.1877G>A (p.Trp626Ter) rs1456090810
NM_000203.5(IDUA):c.1898C>A (p.Ser633Ter) rs886043347
NM_000203.5(IDUA):c.192C>A (p.Tyr64Ter) rs121965022
NM_000203.5(IDUA):c.236C>T (p.Ala79Val) rs747981483
NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del) rs398123260
NM_000203.5(IDUA):c.532G>A (p.Glu178Lys)
NM_000203.5(IDUA):c.536C>G (p.Thr179Arg) rs776098539
NM_000203.5(IDUA):c.540G>A (p.Trp180Ter) rs2153021904
NM_000203.5(IDUA):c.606C>A (p.Tyr202Ter) rs1033313360
NM_000203.5(IDUA):c.613_617dup (p.Glu207fs) rs786200915
NM_000203.5(IDUA):c.826G>A (p.Glu276Lys)
NM_000203.5(IDUA):c.876del (p.Asp292fs) rs1553917209
NM_000203.5(IDUA):c.878_889dup (p.Thr293_Tyr296dup) rs779762183
NM_000203.5(IDUA):c.895G>T (p.Glu299Ter) rs1715120049
NM_000203.5(IDUA):c.956C>T (p.Ala319Val) rs781534097

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