ClinVar Miner

List of variants reported as likely pathogenic for Mucopolysaccharidosis type 1

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Total variants: 122
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HGVS dbSNP gnomAD frequency
NM_000203.5(IDUA):c.1577T>C (p.Leu526Pro) rs781136336 0.00035
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) rs199801029 0.00007
NM_000203.5(IDUA):c.1046A>G (p.Asp349Gly) rs371397270 0.00005
NM_000203.5(IDUA):c.536C>T (p.Thr179Met) rs776098539 0.00004
NM_000203.5(IDUA):c.590-7G>A rs762411583 0.00004
NM_000203.5(IDUA):c.1487C>T (p.Pro496Leu) rs772416503 0.00003
NM_000203.5(IDUA):c.1622G>T (p.Cys541Phe) rs950213013 0.00003
NM_000203.5(IDUA):c.1709A>G (p.Asp570Gly) rs753905054 0.00003
NM_000203.5(IDUA):c.793G>C (p.Gly265Arg) rs369090960 0.00003
NM_000203.5(IDUA):c.1829-1G>A rs745915863 0.00002
NM_000203.5(IDUA):c.955G>A (p.Ala319Thr) rs374699130 0.00002
NM_000203.5(IDUA):c.1045G>A (p.Asp349Asn) rs368454909 0.00001
NM_000203.5(IDUA):c.1087C>T (p.Arg363Cys) rs750496798 0.00001
NM_000203.5(IDUA):c.1147C>T (p.Arg383Cys) rs751396984 0.00001
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys) rs794727896 0.00001
NM_000203.5(IDUA):c.1190-2A>T rs994902207 0.00001
NM_000203.5(IDUA):c.1402+1G>T rs398123254 0.00001
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro) rs121965027 0.00001
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg) rs772416503 0.00001
NM_000203.5(IDUA):c.1499A>G (p.Gln500Arg) rs1715216061 0.00001
NM_000203.5(IDUA):c.1524+1G>A rs1553917483 0.00001
NM_000203.5(IDUA):c.1597C>T (p.Pro533Ser) rs374779600 0.00001
NM_000203.5(IDUA):c.1829-2A>G rs1553917733 0.00001
NM_000203.5(IDUA):c.1883G>C (p.Arg628Pro) rs200448421 0.00001
NM_000203.5(IDUA):c.191_192del (p.Tyr64fs) rs794727240 0.00001
NM_000203.5(IDUA):c.299+1G>T rs398123259 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.53T>C (p.Leu18Pro) rs794726878 0.00001
NM_000203.5(IDUA):c.544G>A (p.Glu182Lys) rs754154200 0.00001
NM_000203.5(IDUA):c.589+1G>A rs1293215555 0.00001
NM_000203.5(IDUA):c.794G>A (p.Gly265Asp) rs931510421 0.00001
NM_000203.4(IDUA):c.1960T>G (p.Ter654Gly) rs387906504
NM_000203.5(IDUA):c.1026del (p.Tyr343fs)
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.1045G>T (p.Asp349Tyr) rs368454909
NM_000203.5(IDUA):c.1073_1093del (p.His358_Thr364del) rs1214495121
NM_000203.5(IDUA):c.1082del (p.Ala361fs)
NM_000203.5(IDUA):c.1087C>A (p.Arg363Ser) rs750496798
NM_000203.5(IDUA):c.1090A>T (p.Thr364Ser)
NM_000203.5(IDUA):c.1091C>A (p.Thr364Lys) rs121965032
NM_000203.5(IDUA):c.1091C>G (p.Thr364Arg) rs121965032
NM_000203.5(IDUA):c.1115A>G (p.Asn372Ser) rs1553917304
NM_000203.5(IDUA):c.1163C>T (p.Thr388Met) rs794727896
NM_000203.5(IDUA):c.1181_1189dup (p.Leu396_Asp397insAlaLeuLeu)
NM_000203.5(IDUA):c.1190-10C>A rs1443642527
NM_000203.5(IDUA):c.1269C>A (p.Ser423Arg) rs931627770
NM_000203.5(IDUA):c.1282C>T (p.Gln428Ter) rs2534092933
NM_000203.5(IDUA):c.1323C>A (p.Tyr441Ter) rs1463087550
NM_000203.5(IDUA):c.1330GAC[1] (p.Asp445del) rs1715188461
NM_000203.5(IDUA):c.1395del (p.Gly466fs) rs1386109118
NM_000203.5(IDUA):c.1402+1G>A rs398123254
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 rs2534097045
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.1598C>A (p.Pro533Gln) rs121965021
NM_000203.5(IDUA):c.1598C>T (p.Pro533Leu) rs121965021
NM_000203.5(IDUA):c.1651-2A>G rs2153022990
NM_000203.5(IDUA):c.1695_1705del (p.Leu566fs) rs1220371654
NM_000203.5(IDUA):c.1709A>T (p.Asp570Val) rs753905054
NM_000203.5(IDUA):c.1723_1727+4del rs1715262294
NM_000203.5(IDUA):c.1727+1G>A rs1577544451
NM_000203.5(IDUA):c.1727+6T>A rs2534099860
NM_000203.5(IDUA):c.1799del (p.Pro599_Ser600insTer) rs398123258
NM_000203.5(IDUA):c.1827_1828+4delinsTGTGT rs2534102903
NM_000203.5(IDUA):c.1829-1G>C rs745915863
NM_000203.5(IDUA):c.1855C>G (p.Arg619Gly) rs121965031
NM_000203.5(IDUA):c.1858G>T (p.Val620Phe) rs2153023278
NM_000203.5(IDUA):c.1868T>C (p.Leu623Pro) rs2153023287
NM_000203.5(IDUA):c.1874A>C (p.Tyr625Ser) rs587779401
NM_000203.5(IDUA):c.1874A>G (p.Tyr625Cys) rs587779401
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) rs1715314710
NM_000203.5(IDUA):c.1962A>T (p.Ter654Cys) rs199794428
NM_000203.5(IDUA):c.224C>T (p.Ala75Val) rs1315260083
NM_000203.5(IDUA):c.236C>T (p.Ala79Val) rs747981483
NM_000203.5(IDUA):c.299_299+1delinsAT rs2153015709
NM_000203.5(IDUA):c.300-7_306del rs2534077097
NM_000203.5(IDUA):c.306del (p.Thr103fs) rs1461124319
NM_000203.5(IDUA):c.326_331del (p.Tyr109_Asn110del) rs1470115977
NM_000203.5(IDUA):c.398_403del (p.Met133_Gly134del) rs774605197
NM_000203.5(IDUA):c.3G>A (p.Met1Ile) rs1553914740
NM_000203.5(IDUA):c.439C>T (p.Gln147Ter) rs1389029860
NM_000203.5(IDUA):c.457A>T (p.Lys153Ter) rs1715035049
NM_000203.5(IDUA):c.494-1G>A rs794727701
NM_000203.5(IDUA):c.494-2A>C
NM_000203.5(IDUA):c.512_513del (p.His171fs) rs1715069355
NM_000203.5(IDUA):c.523T>C (p.Trp175Arg) rs875989946
NM_000203.5(IDUA):c.536C>A (p.Thr179Lys) rs776098539
NM_000203.5(IDUA):c.536C>G (p.Thr179Arg) rs776098539
NM_000203.5(IDUA):c.540G>C (p.Trp180Cys) rs2153021904
NM_000203.5(IDUA):c.543_544inv (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.60_61delinsA (p.Pro22fs) rs1553914762
NM_000203.5(IDUA):c.613T>G (p.Cys205Gly) rs140294059
NM_000203.5(IDUA):c.614G>A (p.Cys205Tyr) rs1715086540
NM_000203.5(IDUA):c.615C>G (p.Cys205Trp)
NM_000203.5(IDUA):c.623G>C (p.Gly208Ala) rs1430681871
NM_000203.5(IDUA):c.655G>A (p.Gly219Arg) rs2534084817
NM_000203.5(IDUA):c.65del (p.Pro22fs) rs1560531755
NM_000203.5(IDUA):c.713T>C (p.Leu238Pro) rs148789453
NM_000203.5(IDUA):c.718C>T (p.His240Tyr) rs1374359136
NM_000203.5(IDUA):c.720C>G (p.His240Gln) rs1715096917
NM_000203.5(IDUA):c.779C>T (p.Ser260Phe)
NM_000203.5(IDUA):c.886_894dup (p.Tyr296_Asp298dup) rs1553917216
NM_000203.5(IDUA):c.905C>G (p.Pro302Arg) rs767140903
NM_000203.5(IDUA):c.928C>T (p.Gln310Ter) rs121965023
NM_000203.5(IDUA):c.956C>A (p.Ala319Glu) rs781534097
NM_000203.5(IDUA):c.973-2A>G

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