ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 88
Download table as spreadsheet
HGVS dbSNP
IDUA, 1-BP DEL, 1702G
NC_000004.11:g.(?_996510)_(998355_?)del
NM_000203.3(IDUA):c.[1225G>C;1962A>T]
NM_000203.4(IDUA):c.1960T>G (p.Ter654Gly) rs387906504
NM_000203.5(IDUA):c.1029C>A (p.Tyr343Ter) rs764196171
NM_000203.5(IDUA):c.1029C>G (p.Tyr343Ter) rs764196171
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.1081G>A (p.Ala361Thr) rs6831280
NM_000203.5(IDUA):c.1091C>T (p.Thr364Met) rs121965032
NM_000203.5(IDUA):c.1096A>C (p.Thr366Pro) rs121965024
NM_000203.5(IDUA):c.1096_1099del (p.Thr366fs)
NM_000203.5(IDUA):c.1108C>T (p.Gln370Ter)
NM_000203.5(IDUA):c.1139A>G (p.Gln380Arg) rs762903007
NM_000203.5(IDUA):c.1148G>A (p.Arg383His) rs754949360
NM_000203.5(IDUA):c.1163C>G (p.Thr388Arg) rs794727896
NM_000203.5(IDUA):c.1163del (p.Thr388fs) rs1577541504
NM_000203.5(IDUA):c.1190-10_*10del
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) rs121965019
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)
NM_000203.5(IDUA):c.1269C>A (p.Ser423Arg)
NM_000203.5(IDUA):c.1276_1282dup (p.Gln428fs) rs1445719596
NM_000203.5(IDUA):c.1395dup (p.Gly466fs)
NM_000203.5(IDUA):c.1402+2T>G rs1553917428
NM_000203.5(IDUA):c.1422_1423dup (p.Tyr475fs) rs761793564
NM_000203.5(IDUA):c.1456G>T (p.Glu486Ter) rs1356329915
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.1487C>G (p.Pro496Arg) rs772416503
NM_000203.5(IDUA):c.1561_1570del (p.Ala520_Gly521insTer)
NM_000203.5(IDUA):c.1577T>C (p.Leu526Pro) rs781136336
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) rs121965021
NM_000203.5(IDUA):c.1602del (p.Leu535fs) rs1553917566
NM_000203.5(IDUA):c.1614del (p.His539fs) rs727503967
NM_000203.5(IDUA):c.1650+5G>A rs398123256
NM_000203.5(IDUA):c.1681C>T (p.Gln561Ter)
NM_000203.5(IDUA):c.1695_1705del (p.Leu566fs)
NM_000203.5(IDUA):c.1727+1G>A rs1577544451
NM_000203.5(IDUA):c.1728-1G>C rs1249951282
NM_000203.5(IDUA):c.1728-2A>G rs1553917699
NM_000203.5(IDUA):c.1743C>G (p.Tyr581Ter) rs776787370
NM_000203.5(IDUA):c.1750C>T (p.Gln584Ter)
NM_000203.5(IDUA):c.1766del (p.Gly589fs)
NM_000203.5(IDUA):c.1799C>A (p.Ser600Ter)
NM_000203.5(IDUA):c.1799del (p.Pro599_Ser600insTer) rs398123258
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.1855C>T (p.Arg619Ter) rs121965031
NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter) rs121965025
NM_000203.5(IDUA):c.1874A>G (p.Tyr625Cys) rs587779401
NM_000203.5(IDUA):c.1877G>A (p.Trp626Ter)
NM_000203.5(IDUA):c.1882C>T (p.Arg628Ter) rs756572099
NM_000203.5(IDUA):c.1898C>A (p.Ser633Ter)
NM_000203.5(IDUA):c.1898C>T (p.Ser633Leu) rs886043347
NM_000203.5(IDUA):c.1960T>C (p.Ter654Arg)
NM_000203.5(IDUA):c.300-3C>G rs1226056948
NM_000203.5(IDUA):c.306del (p.Thr103fs)
NM_000203.5(IDUA):c.385+1G>C rs780615798
NM_000203.5(IDUA):c.386-2A>G rs777295041
NM_000203.5(IDUA):c.494-1G>A rs794727701
NM_000203.5(IDUA):c.525G>A (p.Trp175Ter)
NM_000203.5(IDUA):c.542dup (p.Asn181fs) rs1553917044
NM_000203.5(IDUA):c.585dup (p.Gln196fs)
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)
NM_000203.5(IDUA):c.612_615dup (p.Ser206fs) rs875989947
NM_000203.5(IDUA):c.613_617dup (p.Glu207fs) rs786200915
NM_000203.5(IDUA):c.615C>A (p.Cys205Ter)
NM_000203.5(IDUA):c.653T>C (p.Leu218Pro) rs869025584
NM_000203.5(IDUA):c.713T>A (p.Leu238Gln) rs148789453
NM_000203.5(IDUA):c.719A>G (p.His240Arg)
NM_000203.5(IDUA):c.784del (p.His262fs)
NM_000203.5(IDUA):c.793-1G>A rs762779421
NM_000203.5(IDUA):c.793G>C (p.Gly265Arg) rs369090960
NM_000203.5(IDUA):c.853del (p.Gln285fs)
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)
NM_000203.5(IDUA):c.895G>T (p.Glu299Ter)
NM_000203.5(IDUA):c.905del (p.Pro302fs)
NM_000203.5(IDUA):c.910del (p.Val304fs)
NM_000203.5(IDUA):c.928C>T (p.Gln310Ter) rs121965023
NM_000203.5(IDUA):c.936G>A (p.Trp312Ter)
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) rs199801029

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.