ClinVar Miner

List of variants reported as likely pathogenic for Mucopolysaccharidosis type 1 by Invitae

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Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_000203.5(IDUA):c.1829-1G>A rs745915863 0.00002
NM_000203.5(IDUA):c.1087C>T (p.Arg363Cys) rs750496798 0.00001
NM_000203.5(IDUA):c.1190-2A>T rs994902207 0.00001
NM_000203.5(IDUA):c.1524+1G>A rs1553917483 0.00001
NM_000203.5(IDUA):c.1883G>C (p.Arg628Pro) rs200448421 0.00001
NM_000203.5(IDUA):c.227A>G (p.Tyr76Cys) rs780165694 0.00001
NM_000203.5(IDUA):c.535A>G (p.Thr179Ala) rs766030255 0.00001
NM_000203.5(IDUA):c.539G>C (p.Trp180Ser) rs1044231895 0.00001
NM_000203.5(IDUA):c.589+1G>A rs1293215555 0.00001
NM_000203.5(IDUA):c.1039A>C (p.Ser347Arg) rs2153022349
NM_000203.5(IDUA):c.1040G>C (p.Ser347Thr) rs780106243
NM_000203.5(IDUA):c.1087C>A (p.Arg363Ser)
NM_000203.5(IDUA):c.1091C>A (p.Thr364Lys)
NM_000203.5(IDUA):c.1091C>G (p.Thr364Arg)
NM_000203.5(IDUA):c.1115A>G (p.Asn372Ser) rs1553917304
NM_000203.5(IDUA):c.1147C>T (p.Arg383Cys)
NM_000203.5(IDUA):c.1163C>T (p.Thr388Met) rs794727896
NM_000203.5(IDUA):c.141GAG[1] (p.Arg48del) rs1713799705
NM_000203.5(IDUA):c.1466G>C (p.Arg489Pro) rs1416328981
NM_000203.5(IDUA):c.1475G>C (p.Arg492Pro) rs121965026
NM_000203.5(IDUA):c.1513C>G (p.Arg505Gly) rs1715218377
NM_000203.5(IDUA):c.1525-11_1536del rs1715233169
NM_000203.5(IDUA):c.1525-1G>A
NM_000203.5(IDUA):c.1525-2A>C rs2153022881
NM_000203.5(IDUA):c.159-1G>A rs1553914935
NM_000203.5(IDUA):c.159-2A>C rs2153015588
NM_000203.5(IDUA):c.159-2A>G rs2153015588
NM_000203.5(IDUA):c.1597C>A (p.Pro533Thr) rs374779600
NM_000203.5(IDUA):c.1597C>T (p.Pro533Ser)
NM_000203.5(IDUA):c.1598C>A (p.Pro533Gln)
NM_000203.5(IDUA):c.1651-2A>G rs2153022990
NM_000203.5(IDUA):c.1709A>G (p.Asp570Gly)
NM_000203.5(IDUA):c.1709A>T (p.Asp570Val)
NM_000203.5(IDUA):c.1723_1727+4del
NM_000203.5(IDUA):c.1829-1G>C
NM_000203.5(IDUA):c.1829-2A>G rs1553917733
NM_000203.5(IDUA):c.1868T>C (p.Leu623Pro) rs2153023287
NM_000203.5(IDUA):c.1874A>C (p.Tyr625Ser)
NM_000203.5(IDUA):c.1874A>G (p.Tyr625Cys) rs587779401
NM_000203.5(IDUA):c.1897del (p.Ser633fs) rs1553917756
NM_000203.5(IDUA):c.224C>T (p.Ala75Val) rs1315260083
NM_000203.5(IDUA):c.299_299+1delinsAT rs2153015709
NM_000203.5(IDUA):c.300-7_306del
NM_000203.5(IDUA):c.523T>C (p.Trp175Arg) rs875989946
NM_000203.5(IDUA):c.536C>A (p.Thr179Lys)
NM_000203.5(IDUA):c.540G>C (p.Trp180Cys)
NM_000203.5(IDUA):c.543_544inv (p.Glu182Lys)
NM_000203.5(IDUA):c.544G>A (p.Glu182Lys)
NM_000203.5(IDUA):c.548C>G (p.Pro183Arg) rs1238128027
NM_000203.5(IDUA):c.607G>T (p.Asp203Tyr) rs2153021976
NM_000203.5(IDUA):c.608A>G (p.Asp203Gly) rs2153021978
NM_000203.5(IDUA):c.613T>G (p.Cys205Gly)
NM_000203.5(IDUA):c.623G>C (p.Gly208Ala)
NM_000203.5(IDUA):c.655G>A (p.Gly219Arg)
NM_000203.5(IDUA):c.713T>C (p.Leu238Pro) rs148789453
NM_000203.5(IDUA):c.718C>T (p.His240Tyr)
NM_000203.5(IDUA):c.905C>G (p.Pro302Arg) rs767140903
NM_000203.5(IDUA):c.955G>A (p.Ala319Thr)
NM_000203.5(IDUA):c.956C>A (p.Ala319Glu) rs781534097

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