ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 74
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HGVS dbSNP
NM_000203.5(IDUA):c.1029C>G (p.Tyr343Ter) rs764196171
NM_000203.5(IDUA):c.1039A>C (p.Ser347Arg)
NM_000203.5(IDUA):c.1044C>G (p.Asn348Lys) rs746766617
NM_000203.5(IDUA):c.1045G>A (p.Asp349Asn) rs368454909
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.1091C>T (p.Thr364Met) rs121965032
NM_000203.5(IDUA):c.1148G>A (p.Arg383His) rs754949360
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys) rs794727896
NM_000203.5(IDUA):c.1163C>G (p.Thr388Arg) rs794727896
NM_000203.5(IDUA):c.1190-2A>T rs994902207
NM_000203.5(IDUA):c.1219C>T (p.Gln407Ter)
NM_000203.5(IDUA):c.1276_1282dup (p.Gln428fs) rs1445719596
NM_000203.5(IDUA):c.1330GAC[1] (p.Asp445del)
NM_000203.5(IDUA):c.1395del (p.Gly466fs)
NM_000203.5(IDUA):c.1402+1G>A rs398123254
NM_000203.5(IDUA):c.1403-1G>T rs4690223
NM_000203.5(IDUA):c.1422_1423dup (p.Tyr475fs) rs761793564
NM_000203.5(IDUA):c.1461G>A (p.Trp487Ter)
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro) rs121965027
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg) rs772416503
NM_000203.5(IDUA):c.1487C>T (p.Pro496Leu) rs772416503
NM_000203.5(IDUA):c.1524+1G>A
NM_000203.5(IDUA):c.1524+1G>T rs1553917483
NM_000203.5(IDUA):c.1525-11_1536del
NM_000203.5(IDUA):c.1591del (p.Arg531fs) rs1553917558
NM_000203.5(IDUA):c.1598C>T (p.Pro533Leu) rs121965021
NM_000203.5(IDUA):c.1602del (p.Leu535fs) rs1553917566
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
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.1828+1G>C rs919151683
NM_000203.5(IDUA):c.1829-1G>A rs745915863
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)
NM_000203.5(IDUA):c.1867del (p.Leu623fs) rs1553917747
NM_000203.5(IDUA):c.1868_1892del (p.Leu623fs) rs1553917746
NM_000203.5(IDUA):c.1883G>C (p.Arg628Pro) rs200448421
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)
NM_000203.5(IDUA):c.300-1G>A rs1553916890
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)
NM_000203.5(IDUA):c.457A>T (p.Lys153Ter)
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)
NM_000203.5(IDUA):c.523T>C (p.Trp175Arg) rs875989946
NM_000203.5(IDUA):c.525G>A (p.Trp175Ter)
NM_000203.5(IDUA):c.536C>G (p.Thr179Arg) rs776098539
NM_000203.5(IDUA):c.539G>A (p.Trp180Ter)
NM_000203.5(IDUA):c.542dup (p.Asn181fs) rs1553917044
NM_000203.5(IDUA):c.589+1G>A rs1293215555
NM_000203.5(IDUA):c.590-2A>G
NM_000203.5(IDUA):c.590-7G>A rs762411583
NM_000203.5(IDUA):c.615C>A (p.Cys205Ter)
NM_000203.5(IDUA):c.623G>A (p.Gly208Asp) rs1430681871
NM_000203.5(IDUA):c.713T>A (p.Leu238Gln) rs148789453
NM_000203.5(IDUA):c.793-1G>A rs762779421
NM_000203.5(IDUA):c.793G>C (p.Gly265Arg) rs369090960
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.904C>A (p.Pro302Thr)
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) rs199801029

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