ClinVar Miner

List of variants in gene IDUA reported as pathogenic for Mucopolysaccharidosis type 1

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Gene type:
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Total variants: 168
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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.1577T>C (p.Leu526Pro) rs781136336 0.00035
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) rs199801029 0.00008
NM_000203.5(IDUA):c.923T>C (p.Leu308Pro) rs752337969 0.00006
NM_000203.5(IDUA):c.1046A>G (p.Asp349Gly) rs371397270 0.00004
NM_000203.5(IDUA):c.1403-1G>T rs4690223 0.00004
NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter) rs121965031 0.00004
NM_000203.5(IDUA):c.536C>T (p.Thr179Met) rs776098539 0.00004
NM_000203.5(IDUA):c.793-1G>A rs762779421 0.00004
NM_000203.5(IDUA):c.1487C>T (p.Pro496Leu) rs772416503 0.00003
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.793G>C (p.Gly265Arg) rs369090960 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.713T>A (p.Leu238Gln) rs148789453 0.00002
NM_000203.5(IDUA):c.1045G>A (p.Asp349Asn) rs368454909 0.00001
NM_000203.5(IDUA):c.1139A>G (p.Gln380Arg) rs762903007 0.00001
NM_000203.5(IDUA):c.1148G>A (p.Arg383His) rs754949360 0.00001
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.1422_1423dup (p.Tyr475fs) rs761793564 0.00001
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg) rs772416503 0.00001
NM_000203.5(IDUA):c.1728-1G>C rs1249951282 0.00001
NM_000203.5(IDUA):c.1828+1G>C rs919151683 0.00001
NM_000203.5(IDUA):c.1898C>T (p.Ser633Leu) rs886043347 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.653T>C (p.Leu218Pro) rs869025584 0.00001
NM_000203.5(IDUA):c.719A>G (p.His240Arg) rs1297784711 0.00001
NC_000004.11:g.(?_994390)_(998355_?)del
NC_000004.11:g.(?_995319)_(996126_?)del
NC_000004.11:g.(?_996510)_(998355_?)del
NC_000004.11:g.(?_997352)_(998539_?)del
NM_000203.4(IDUA):c.1960T>G (p.Ter654Gly) rs387906504
NM_000203.5(IDUA):c.1023_1026del (p.Pro342fs)
NM_000203.5(IDUA):c.1029C>G (p.Tyr343Ter) rs764196171
NM_000203.5(IDUA):c.1036del (p.Leu345_Leu346insTer) rs2153022341
NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg) rs121965033
NM_000203.5(IDUA):c.1044C>G (p.Asn348Lys) rs746766617
NM_000203.5(IDUA):c.1045G>T (p.Asp349Tyr) rs368454909
NM_000203.5(IDUA):c.1045_1047del (p.Asp349del) rs1230096882
NM_000203.5(IDUA):c.1047dup (p.Asn350fs) rs2153022358
NM_000203.5(IDUA):c.1073_1093del (p.His358_Thr364del) rs1214495121
NM_000203.5(IDUA):c.1077del (p.Phe360fs) rs2153022377
NM_000203.5(IDUA):c.1088_1089dup (p.Thr364fs) rs2153022390
NM_000203.5(IDUA):c.1091C>T (p.Thr364Met) rs121965032
NM_000203.5(IDUA):c.1099G>C (p.Ala367Pro)
NM_000203.5(IDUA):c.1108C>T (p.Gln370Ter) rs2153022415
NM_000203.5(IDUA):c.1137_1138dup (p.Gln380fs)
NM_000203.5(IDUA):c.1163del (p.Thr388fs) rs1577541504
NM_000203.5(IDUA):c.1167del (p.Met390fs) rs2153022443
NM_000203.5(IDUA):c.1190-10C>A rs1443642527
NM_000203.5(IDUA):c.1190-10_*10del
NM_000203.5(IDUA):c.1190-1del
NM_000203.5(IDUA):c.1206G>A (p.Trp402Ter) rs991612107
NM_000203.5(IDUA):c.1210G>T (p.Glu404Ter) rs1340421020
NM_000203.5(IDUA):c.1227dup (p.Thr410fs) rs1715179164
NM_000203.5(IDUA):c.1269C>A (p.Ser423Arg) rs931627770
NM_000203.5(IDUA):c.1276_1282dup (p.Gln428fs) rs1445719596
NM_000203.5(IDUA):c.1306del (p.Ala436fs)
NM_000203.5(IDUA):c.1323C>A (p.Tyr441Ter)
NM_000203.5(IDUA):c.1323C>G (p.Tyr441Ter)
NM_000203.5(IDUA):c.1326_1330dup (p.Asp444fs)
NM_000203.5(IDUA):c.1330GAC[1] (p.Asp445del) rs1715188461
NM_000203.5(IDUA):c.1395del (p.Gly466fs) rs1386109118
NM_000203.5(IDUA):c.1395dup (p.Gly466fs) rs1386109118
NM_000203.5(IDUA):c.1402+2T>G rs1553917428
NM_000203.5(IDUA):c.1403-1G>A
NM_000203.5(IDUA):c.1456G>T (p.Glu486Ter) rs1356329915
NM_000203.5(IDUA):c.1460G>T (p.Trp487Leu) rs1715210316
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro) rs121965027
NM_000203.5(IDUA):c.1496_1497del (p.Glu499fs) rs2153022799
NM_000203.5(IDUA):c.1498C>T (p.Gln500Ter) rs1290558249
NM_000203.5(IDUA):c.1529dup (p.Val511fs)
NM_000203.5(IDUA):c.1546dup (p.Arg516fs) rs2153022895
NM_000203.5(IDUA):c.1561_1570del (p.Ala520_Gly521insTer) rs1715237631
NM_000203.5(IDUA):c.1587_1588dup (p.Leu530fs)
NM_000203.5(IDUA):c.1598C>T (p.Pro533Leu) rs121965021
NM_000203.5(IDUA):c.1602del (p.Leu535fs) rs1553917566
NM_000203.5(IDUA):c.1623T>A (p.Cys541Ter) rs2153022938
NM_000203.5(IDUA):c.1646_1647del (p.Gly549fs)
NM_000203.5(IDUA):c.1648C>T (p.Gln550Ter) rs2153022958
NM_000203.5(IDUA):c.1650+5G>A rs398123256
NM_000203.5(IDUA):c.1681C>T (p.Gln561Ter) rs752800292
NM_000203.5(IDUA):c.1695_1705del (p.Leu566fs) rs1220371654
NM_000203.5(IDUA):c.1708G>C (p.Asp570His) rs1553917627
NM_000203.5(IDUA):c.1713del (p.Glu571fs)
NM_000203.5(IDUA):c.1727+1G>A rs1577544451
NM_000203.5(IDUA):c.1728-1G>A rs1249951282
NM_000203.5(IDUA):c.1728-2A>G rs1553917699
NM_000203.5(IDUA):c.1737G>A (p.Trp579Ter)
NM_000203.5(IDUA):c.1750C>T (p.Gln584Ter) rs1715290919
NM_000203.5(IDUA):c.1766del (p.Gly589fs) rs1715293163
NM_000203.5(IDUA):c.1799C>A (p.Ser600Ter) rs867456178
NM_000203.5(IDUA):c.1799del (p.Pro599_Ser600insTer) rs398123258
NM_000203.5(IDUA):c.1815dup (p.Val606fs) rs2153023210
NM_000203.5(IDUA):c.1854C>A (p.Tyr618Ter) rs746936485
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.1861C>T (p.Arg621Ter) rs121965025
NM_000203.5(IDUA):c.1877G>A (p.Trp626Ter) rs1456090810
NM_000203.5(IDUA):c.1882del (p.Arg628fs)
NM_000203.5(IDUA):c.1893del (p.Phe632fs) rs1553917754
NM_000203.5(IDUA):c.1898C>A (p.Ser633Ter) rs886043347
NM_000203.5(IDUA):c.1898C>G (p.Ser633Trp) rs886043347
NM_000203.5(IDUA):c.1960T>C (p.Ter654Arg) rs387906504
NM_000203.5(IDUA):c.300-3C>G rs1226056948
NM_000203.5(IDUA):c.306del (p.Thr103fs) rs1461124319
NM_000203.5(IDUA):c.326_331del (p.Tyr109_Asn110del)
NM_000203.5(IDUA):c.349del (p.Tyr117fs) rs2153021628
NM_000203.5(IDUA):c.367G>T (p.Glu123Ter)
NM_000203.5(IDUA):c.385+1G>C rs780615798
NM_000203.5(IDUA):c.386-1G>A rs2153021698
NM_000203.5(IDUA):c.398_403del (p.Met133_Gly134del) rs774605197
NM_000203.5(IDUA):c.403del (p.Ser135fs) rs2153021702
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.493+1G>T
NM_000203.5(IDUA):c.504_510del (p.Leu169fs)
NM_000203.5(IDUA):c.523_534del (p.Trp175_Glu178del)
NM_000203.5(IDUA):c.525G>A (p.Trp175Ter) rs776305028
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.542dup (p.Asn181fs) rs1553917044
NM_000203.5(IDUA):c.570del (p.Asn190fs) rs1330366594
NM_000203.5(IDUA):c.576del (p.Ser192_Met193insTer)
NM_000203.5(IDUA):c.585dup (p.Gln196fs) rs2153021921
NM_000203.5(IDUA):c.586C>T (p.Gln196Ter)
NM_000203.5(IDUA):c.590-1G>A rs1715084294
NM_000203.5(IDUA):c.590-2A>G rs1252941339
NM_000203.5(IDUA):c.590-7G>A rs762411583
NM_000203.5(IDUA):c.606C>A (p.Tyr202Ter) rs1033313360
NM_000203.5(IDUA):c.606C>G (p.Tyr202Ter) rs1033313360
NM_000203.5(IDUA):c.607G>A (p.Asp203Asn) rs2153021976
NM_000203.5(IDUA):c.607_614dup (p.Cys205fs)
NM_000203.5(IDUA):c.612_615del (p.Cys205fs) rs875989947
NM_000203.5(IDUA):c.613_617dup (p.Glu207fs) rs786200915
NM_000203.5(IDUA):c.614G>A (p.Cys205Tyr) rs1715086540
NM_000203.5(IDUA):c.615C>A (p.Cys205Ter) rs1715086654
NM_000203.5(IDUA):c.630del (p.Ala211fs)
NM_000203.5(IDUA):c.642_646del (p.Leu216fs) rs2153022009
NM_000203.5(IDUA):c.722_723delinsAA (p.Cys241Ter)
NM_000203.5(IDUA):c.774C>A (p.Tyr258Ter)
NM_000203.5(IDUA):c.784del (p.His262fs) rs757928590
NM_000203.5(IDUA):c.793-2A>G
NM_000203.5(IDUA):c.820G>T (p.Glu274Ter) rs1553917192
NM_000203.5(IDUA):c.826G>A (p.Glu276Lys)
NM_000203.5(IDUA):c.853del (p.Gln285fs) rs2153022188
NM_000203.5(IDUA):c.866del (p.Lys289fs)
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.882dup (p.Ile295fs) rs2153022202
NM_000203.5(IDUA):c.895G>T (p.Glu299Ter) rs1715120049
NM_000203.5(IDUA):c.898G>A (p.Ala300Thr) rs121965030
NM_000203.5(IDUA):c.901G>C (p.Asp301His)
NM_000203.5(IDUA):c.903C>G (p.Asp301Glu) rs759390416
NM_000203.5(IDUA):c.905del (p.Pro302fs) rs2153022225
NM_000203.5(IDUA):c.910del (p.Val304fs) rs2153022228
NM_000203.5(IDUA):c.911del (p.Val304fs) rs2153022229
NM_000203.5(IDUA):c.936G>A (p.Trp312Ter) rs1715123409
NM_000203.5(IDUA):c.954C>G (p.Tyr318Ter)
NM_000203.5(IDUA):c.956C>T (p.Ala319Val) rs781534097
NM_000203.5(IDUA):c.965del (p.Val322fs) rs2153022263
NM_000203.5(IDUA):c.972+1G>A rs794727840

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