ClinVar Miner

List of variants in gene IDUA reported as likely pathogenic for carbohydrate metabolism disease

Included ClinVar conditions (304):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 142
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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 0.00008
NM_000203.5(IDUA):c.1046A>G (p.Asp349Gly) rs371397270 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.793G>C (p.Gly265Arg) rs369090960 0.00003
NM_000203.5(IDUA):c.1829-1G>A rs745915863 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.1087C>T (p.Arg363Cys) rs750496798 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.1190-2A>T rs994902207 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.1524+1G>A rs1553917483 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.1883G>C (p.Arg628Pro) rs200448421 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.623G>A (p.Gly208Asp) rs1430681871 0.00001
NM_000203.5(IDUA):c.719A>G (p.His240Arg) rs1297784711 0.00001
NM_000203.5(IDUA):c.1014_1015insATGGCCGCGTAGG (p.Ser339delinsMetAlaAlaTer)
NM_000203.5(IDUA):c.1029C>G (p.Tyr343Ter) rs764196171
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.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.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.1091C>T (p.Thr364Met) rs121965032
NM_000203.5(IDUA):c.1096_1099del (p.Thr366fs) rs2153022399
NM_000203.5(IDUA):c.1115A>G (p.Asn372Ser) rs1553917304
NM_000203.5(IDUA):c.1118_1130del (p.Asn373fs)
NM_000203.5(IDUA):c.1145T>A (p.Leu382Ter)
NM_000203.5(IDUA):c.1147C>T (p.Arg383Cys)
NM_000203.5(IDUA):c.1163C>T (p.Thr388Met) rs794727896
NM_000203.5(IDUA):c.1192GAG[1] (p.Glu399del)
NM_000203.5(IDUA):c.1219C>T (p.Gln407Ter) rs1715178056
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.1282C>T (p.Gln428Ter)
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.1461G>A (p.Trp487Ter) rs1715210435
NM_000203.5(IDUA):c.1466G>C (p.Arg489Pro) rs1416328981
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro) rs121965027
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.1524+1G>T rs1553917483
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.1551del (p.Leu518fs)
NM_000203.5(IDUA):c.1591del (p.Arg531fs) rs1553917558
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.1598C>T (p.Pro533Leu) rs121965021
NM_000203.5(IDUA):c.1602del (p.Leu535fs) rs1553917566
NM_000203.5(IDUA):c.1644del (p.Gln550fs)
NM_000203.5(IDUA):c.1650+1G>A rs1434521185
NM_000203.5(IDUA):c.1650+2C>G rs1553917580
NM_000203.5(IDUA):c.1650+5G>A rs398123256
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>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.1727+1G>A rs1577544451
NM_000203.5(IDUA):c.1728-2A>G rs1553917699
NM_000203.5(IDUA):c.1827_1828+4delinsTGTGT
NM_000203.5(IDUA):c.1829-1G>C
NM_000203.5(IDUA):c.1829-2A>G rs1553917733
NM_000203.5(IDUA):c.1832_1833del (p.Thr611fs) rs1553917735
NM_000203.5(IDUA):c.1845_1846del (p.Gly616fs) rs1553917737
NM_000203.5(IDUA):c.1858G>T (p.Val620Phe) rs2153023278
NM_000203.5(IDUA):c.1867del (p.Leu623fs) rs1553917747
NM_000203.5(IDUA):c.1868T>C (p.Leu623Pro) rs2153023287
NM_000203.5(IDUA):c.1868_1892del (p.Leu623fs) rs1553917746
NM_000203.5(IDUA):c.1874A>C (p.Tyr625Ser)
NM_000203.5(IDUA):c.1874A>G (p.Tyr625Cys) rs587779401
NM_000203.5(IDUA):c.1889G>A (p.Gly630Asp) rs2153023301
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.300-1G>A rs1553916890
NM_000203.5(IDUA):c.300-7_306del
NM_000203.5(IDUA):c.306del (p.Thr103fs) rs1461124319
NM_000203.5(IDUA):c.326_331del (p.Tyr109_Asn110del)
NM_000203.5(IDUA):c.355del (p.Asp119fs)
NM_000203.5(IDUA):c.362T>C (p.Leu121Pro) rs2153021634
NM_000203.5(IDUA):c.373C>T (p.Gln125Ter)
NM_000203.5(IDUA):c.390del (p.Phe130fs) rs1560545883
NM_000203.5(IDUA):c.398_403del (p.Met133_Gly134del) rs774605197
NM_000203.5(IDUA):c.439C>T (p.Gln147Ter) rs1389029860
NM_000203.5(IDUA):c.452_453del (p.Glu151fs)
NM_000203.5(IDUA):c.457A>T (p.Lys153Ter) rs1715035049
NM_000203.5(IDUA):c.488dup (p.Tyr163Ter) rs1553916950
NM_000203.5(IDUA):c.493+1G>A rs1553916957
NM_000203.5(IDUA):c.512_513del (p.His171fs) rs1715069355
NM_000203.5(IDUA):c.520A>T (p.Lys174Ter)
NM_000203.5(IDUA):c.523T>C (p.Trp175Arg) rs875989946
NM_000203.5(IDUA):c.525G>A (p.Trp175Ter) rs776305028
NM_000203.5(IDUA):c.536C>A (p.Thr179Lys)
NM_000203.5(IDUA):c.536C>G (p.Thr179Arg) rs776098539
NM_000203.5(IDUA):c.539G>A (p.Trp180Ter) rs1044231895
NM_000203.5(IDUA):c.540G>C (p.Trp180Cys)
NM_000203.5(IDUA):c.542dup (p.Asn181fs) rs1553917044
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.589+1G>T rs1293215555
NM_000203.5(IDUA):c.589G>A (p.Gly197Ser) rs2153021926
NM_000203.5(IDUA):c.590-7G>A rs762411583
NM_000203.5(IDUA):c.606C>G (p.Tyr202Ter) rs1033313360
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.615C>A (p.Cys205Ter) rs1715086654
NM_000203.5(IDUA):c.617C>A (p.Ser206Ter)
NM_000203.5(IDUA):c.623G>C (p.Gly208Ala)
NM_000203.5(IDUA):c.655G>A (p.Gly219Arg)
NM_000203.5(IDUA):c.663del (p.Gly222fs)
NM_000203.5(IDUA):c.675_677delinsT (p.Thr227fs)
NM_000203.5(IDUA):c.713T>C (p.Leu238Pro) rs148789453
NM_000203.5(IDUA):c.718C>T (p.His240Tyr)
NM_000203.5(IDUA):c.751del (p.Glu251fs)
NM_000203.5(IDUA):c.751dup (p.Glu251fs)
NM_000203.5(IDUA):c.820G>T (p.Glu274Ter) rs1553917192
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.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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