ClinVar Miner

List of variants in gene IDUA reported as likely pathogenic for Hurler-Scheie syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 59
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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.923T>C (p.Leu308Pro) rs752337969 0.00006
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.1190-2A>T rs994902207 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.719A>G (p.His240Arg) rs1297784711 0.00001
NM_000203.5(IDUA):c.1014_1015insATGGCCGCGTAGG (p.Ser339delinsMetAlaAlaTer)
NM_000203.5(IDUA):c.1040G>C (p.Ser347Thr) rs780106243
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.1073_1093del (p.His358_Thr364del) rs1214495121
NM_000203.5(IDUA):c.1088G>T (p.Arg363Leu)
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.1118_1130del (p.Asn373fs)
NM_000203.5(IDUA):c.1145T>A (p.Leu382Ter)
NM_000203.5(IDUA):c.1190-1del
NM_000203.5(IDUA):c.1219C>T (p.Gln407Ter) rs1715178056
NM_000203.5(IDUA):c.1273del (p.His425fs)
NM_000203.5(IDUA):c.1377del (p.Leu460fs)
NM_000203.5(IDUA):c.1395dup (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.1475G>C (p.Arg492Pro) rs121965026
NM_000203.5(IDUA):c.1477_1480dup (p.Val494fs)
NM_000203.5(IDUA):c.1551del (p.Leu518fs)
NM_000203.5(IDUA):c.1602del (p.Leu535fs) rs1553917566
NM_000203.5(IDUA):c.1603C>T (p.Leu535Phe) rs1577543849
NM_000203.5(IDUA):c.1644del (p.Gln550fs)
NM_000203.5(IDUA):c.1708G>C (p.Asp570His) rs1553917627
NM_000203.5(IDUA):c.1727+5G>A
NM_000203.5(IDUA):c.1815dup (p.Val606fs) rs2153023210
NM_000203.5(IDUA):c.1827_1828+4delinsTGTGT
NM_000203.5(IDUA):c.1853_1855del (p.Tyr618_Arg619delinsTer)
NM_000203.5(IDUA):c.1898C>A (p.Ser633Ter) rs886043347
NM_000203.5(IDUA):c.1938_1947dup (p.Pro650fs)
NM_000203.5(IDUA):c.355del (p.Asp119fs)
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.494-2A>G
NM_000203.5(IDUA):c.520A>T (p.Lys174Ter)
NM_000203.5(IDUA):c.525G>A (p.Trp175Ter) rs776305028
NM_000203.5(IDUA):c.539G>A (p.Trp180Ter) rs1044231895
NM_000203.5(IDUA):c.599_608del (p.Asn200fs)
NM_000203.5(IDUA):c.606C>G (p.Tyr202Ter) rs1033313360
NM_000203.5(IDUA):c.615C>A (p.Cys205Ter) rs1715086654
NM_000203.5(IDUA):c.615_636delinsAACTACTACG (p.Cys205_Ala212delinsTer)
NM_000203.5(IDUA):c.617C>A (p.Ser206Ter)
NM_000203.5(IDUA):c.623G>T (p.Gly208Val)
NM_000203.5(IDUA):c.663del (p.Gly222fs)
NM_000203.5(IDUA):c.675_677delinsT (p.Thr227fs)
NM_000203.5(IDUA):c.723C>A (p.Cys241Ter)
NM_000203.5(IDUA):c.751del (p.Glu251fs)
NM_000203.5(IDUA):c.751dup (p.Glu251fs)
NM_000203.5(IDUA):c.864del (p.Lys289fs)

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