ClinVar Miner

List of variants in gene IDUA reported as uncertain significance for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 139
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HGVS dbSNP
NM_000203.5(IDUA):c.*100A>G
NM_000203.5(IDUA):c.1002G>A (p.Leu334=) rs370582480
NM_000203.5(IDUA):c.1030G>C (p.Ala344Pro)
NM_000203.5(IDUA):c.1031C>G (p.Ala344Gly) rs202191662
NM_000203.5(IDUA):c.1046A>G (p.Asp349Gly)
NM_000203.5(IDUA):c.1049A>G (p.Asn350Ser) rs1577541140
NM_000203.5(IDUA):c.1051G>A (p.Ala351Thr)
NM_000203.5(IDUA):c.1052C>T (p.Ala351Val)
NM_000203.5(IDUA):c.1073_1093del (p.His358_Thr364del) rs1214495121
NM_000203.5(IDUA):c.1087C>T (p.Arg363Cys) rs750496798
NM_000203.5(IDUA):c.1093C>G (p.Leu365Val) rs527336882
NM_000203.5(IDUA):c.1105T>C (p.Phe369Leu)
NM_000203.5(IDUA):c.1115A>G (p.Asn372Ser) rs1553917304
NM_000203.5(IDUA):c.1115ACA[1] (p.Asn373del)
NM_000203.5(IDUA):c.1127C>T (p.Pro376Leu)
NM_000203.5(IDUA):c.1149C>T (p.Arg383=)
NM_000203.5(IDUA):c.1154C>G (p.Pro385Arg) rs1553917309
NM_000203.5(IDUA):c.1160T>C (p.Leu387Pro) rs1553917310
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys) rs794727896
NM_000203.5(IDUA):c.1163C>T (p.Thr388Met) rs794727896
NM_000203.5(IDUA):c.1168A>G (p.Met390Val)
NM_000203.5(IDUA):c.1186C>T (p.Leu396=) rs1011474273
NM_000203.5(IDUA):c.1189+5G>A rs1553917318
NM_000203.5(IDUA):c.1190-10C>A
NM_000203.5(IDUA):c.1191T>G (p.Asp397Glu)
NM_000203.5(IDUA):c.1207G>A (p.Ala403Thr)
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801
NM_000203.5(IDUA):c.1226G>A (p.Gly409Glu) rs1465083754
NM_000203.5(IDUA):c.1230_1257delinsG (p.Asp413_Leu421del) rs1553917376
NM_000203.5(IDUA):c.1247A>C (p.His416Pro) rs1419725967
NM_000203.5(IDUA):c.1249_1275del (p.Thr417_His425del) rs1450080299
NM_000203.5(IDUA):c.1250C>A (p.Thr417Lys) rs1464048268
NM_000203.5(IDUA):c.1264G>C (p.Ala422Pro)
NM_000203.5(IDUA):c.1270G>A (p.Ala424Thr)
NM_000203.5(IDUA):c.1303C>G (p.Arg435Gly)
NM_000203.5(IDUA):c.1332C>T (p.Asp444=) rs545473192
NM_000203.5(IDUA):c.1339C>T (p.Arg447Cys)
NM_000203.5(IDUA):c.1343C>A (p.Ala448Asp)
NM_000203.5(IDUA):c.1345C>A (p.His449Asn) rs532731688
NM_000203.5(IDUA):c.1349C>A (p.Pro450His) rs895626490
NM_000203.5(IDUA):c.1349C>G (p.Pro450Arg) rs895626490
NM_000203.5(IDUA):c.1366_1389del (p.Val456_Val463del) rs1553917418
NM_000203.5(IDUA):c.1367T>G (p.Val456Gly)
NM_000203.5(IDUA):c.1398C>T (p.Gly466=)
NM_000203.5(IDUA):c.1402+8G>A
NM_000203.5(IDUA):c.1403-11A>G
NM_000203.5(IDUA):c.1424_1426del (p.Tyr475del) rs1553917455
NM_000203.5(IDUA):c.1452C>A (p.Asp484Glu)
NM_000203.5(IDUA):c.1460G>T (p.Trp487Leu)
NM_000203.5(IDUA):c.1477C>A (p.Pro493Thr)
NM_000203.5(IDUA):c.1478C>G (p.Pro493Arg)
NM_000203.5(IDUA):c.1479C>A (p.Pro493=) rs370394527
NM_000203.5(IDUA):c.1482C>G (p.Val494=) rs999890083
NM_000203.5(IDUA):c.1491G>A (p.Thr497=)
NM_000203.5(IDUA):c.1501T>C (p.Phe501Leu) rs776590488
NM_000203.5(IDUA):c.1525-3dup rs762593235
NM_000203.5(IDUA):c.1529C>T (p.Pro510Leu)
NM_000203.5(IDUA):c.1588C>A (p.Leu530Met)
NM_000203.5(IDUA):c.1603C>T (p.Leu535Phe) rs1577543849
NM_000203.5(IDUA):c.1633G>A (p.Glu545Lys)
NM_000203.5(IDUA):c.1650+12T>C
NM_000203.5(IDUA):c.1651-10C>T rs548878643
NM_000203.5(IDUA):c.1651-7C>A
NM_000203.5(IDUA):c.1679C>A (p.Thr560Asn)
NM_000203.5(IDUA):c.1708G>C (p.Asp570His) rs1553917627
NM_000203.5(IDUA):c.1717G>T (p.Val573Leu)
NM_000203.5(IDUA):c.1727+4C>T rs1202966289
NM_000203.5(IDUA):c.1727+9G>T
NM_000203.5(IDUA):c.1728-9C>T rs374775605
NM_000203.5(IDUA):c.1757C>T (p.Ser586Phe) rs187833337
NM_000203.5(IDUA):c.1765G>A (p.Gly589Ser)
NM_000203.5(IDUA):c.1800G>A (p.Ser600=) rs763047621
NM_000203.5(IDUA):c.1802C>T (p.Thr601Ile)
NM_000203.5(IDUA):c.1855C>G (p.Arg619Gly) rs121965031
NM_000203.5(IDUA):c.1861C>G (p.Arg621Gly) rs121965025
NM_000203.5(IDUA):c.1862G>C (p.Arg621Pro)
NM_000203.5(IDUA):c.1863A>C (p.Arg621=)
NM_000203.5(IDUA):c.1873T>C (p.Tyr625His)
NM_000203.5(IDUA):c.1888G>A (p.Gly630Ser) rs1553917753
NM_000203.5(IDUA):c.1910C>T (p.Pro637Leu)
NM_000203.5(IDUA):c.1914C>G (p.Tyr638Ter) rs768467230
NM_000203.5(IDUA):c.1918G>T (p.Glu640Ter) rs1553917764
NM_000203.5(IDUA):c.300-3C>G rs1226056948
NM_000203.5(IDUA):c.322A>T (p.Ser108Cys)
NM_000203.5(IDUA):c.348G>A (p.Gly116=)
NM_000203.5(IDUA):c.357C>T (p.Asp119=) rs1262464994
NM_000203.5(IDUA):c.365G>A (p.Arg122Lys) rs200237798
NM_000203.5(IDUA):c.367G>A (p.Glu123Lys) rs577729544
NM_000203.5(IDUA):c.399G>C (p.Met133Ile) rs558683362
NM_000203.5(IDUA):c.406G>A (p.Ala136Thr)
NM_000203.5(IDUA):c.408C>T (p.Ala136=) rs138195998
NM_000203.5(IDUA):c.413G>A (p.Gly138Asp)
NM_000203.5(IDUA):c.485G>A (p.Arg162Lys) rs1553916949
NM_000203.5(IDUA):c.493+6C>G
NM_000203.5(IDUA):c.493+6C>T
NM_000203.5(IDUA):c.493+7G>A rs200509712
NM_000203.5(IDUA):c.494G>A (p.Gly165Asp)
NM_000203.5(IDUA):c.539G>C (p.Trp180Ser)
NM_000203.5(IDUA):c.548C>G (p.Pro183Arg) rs1238128027
NM_000203.5(IDUA):c.557A>G (p.His186Arg)
NM_000203.5(IDUA):c.590G>A (p.Gly197Asp) rs770087890
NM_000203.5(IDUA):c.601TAC[3] (p.Tyr202dup) rs1553917091
NM_000203.5(IDUA):c.618G>A (p.Ser206=)
NM_000203.5(IDUA):c.630C>T (p.Arg210=) rs376012666
NM_000203.5(IDUA):c.637_645dup (p.Ser213_Ala215dup) rs760582777
NM_000203.5(IDUA):c.640_642dup (p.Pro214dup) rs764105238
NM_000203.5(IDUA):c.649C>T (p.Arg217Trp)
NM_000203.5(IDUA):c.663C>G (p.Pro221=) rs368553582
NM_000203.5(IDUA):c.682C>T (p.Pro228Ser)
NM_000203.5(IDUA):c.701G>C (p.Ser234Thr) rs201826605
NM_000203.5(IDUA):c.715C>A (p.Arg239Ser)
NM_000203.5(IDUA):c.720C>G (p.His240Gln)
NM_000203.5(IDUA):c.739TTC[1] (p.Phe248del) rs764800004
NM_000203.5(IDUA):c.757G>T (p.Gly253Cys) rs546933529
NM_000203.5(IDUA):c.770A>G (p.Asp257Gly)
NM_000203.5(IDUA):c.784C>T (p.His262Tyr)
NM_000203.5(IDUA):c.787A>T (p.Arg263Trp) rs201268637
NM_000203.5(IDUA):c.793-10C>G rs886059754
NM_000203.5(IDUA):c.793-5C>T
NM_000203.5(IDUA):c.793-9C>T rs375798875
NM_000203.5(IDUA):c.806C>G (p.Ser269Cys)
NM_000203.5(IDUA):c.812C>T (p.Ser271Phe) rs766950553
NM_000203.5(IDUA):c.814A>C (p.Ile272Leu) rs536381533
NM_000203.5(IDUA):c.837C>T (p.Val279=)
NM_000203.5(IDUA):c.850C>T (p.Arg284Trp)
NM_000203.5(IDUA):c.860T>G (p.Phe287Cys)
NM_000203.5(IDUA):c.886_894dup (p.Tyr296_Asp298dup) rs1553917216
NM_000203.5(IDUA):c.898G>A (p.Ala300Thr) rs121965030
NM_000203.5(IDUA):c.923T>C (p.Leu308Pro) rs752337969
NM_000203.5(IDUA):c.932C>T (p.Pro311Leu) rs377684568
NM_000203.5(IDUA):c.946G>A (p.Val316Met) rs755445369
NM_000203.5(IDUA):c.957G>C (p.Ala319=) rs748350723
NM_000203.5(IDUA):c.964G>T (p.Val322Leu)
NM_000203.5(IDUA):c.972+8G>A
NM_000203.5(IDUA):c.973-4G>A rs745832717
NM_000203.5(IDUA):c.975_980del (p.Ile326_Ala327del) rs1553917253
NM_000203.5(IDUA):c.977T>C (p.Ile326Thr) rs1461992821
NM_000203.5(IDUA):c.981G>T (p.Ala327=) rs372379342
NM_000203.5(IDUA):c.995T>C (p.Leu332Pro)

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