ClinVar Miner

List of variants studied for Hurler-Scheie syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 141
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HGVS dbSNP gnomAD frequency
NM_000203.5(IDUA):c.99T>G (p.His33Gln) rs10794537 0.85085
NM_000203.5(IDUA):c.299+3990A>G rs3822020 0.66105
NM_000203.5(IDUA):c.352C>T (p.Leu118=) rs3755954 0.22368
NM_000203.5(IDUA):c.1525-38T>C rs1131853 0.21794
NM_000203.5(IDUA):c.1727+72T>G rs2305488 0.17150
NM_000203.5(IDUA):c.1402+36T>C rs115134980 0.17107
NM_000203.5(IDUA):c.972+48A>G rs6811373 0.17097
NM_000203.5(IDUA):c.543T>C (p.Asn181=) rs6815946 0.16952
NM_000203.5(IDUA):c.1360G>A (p.Val454Ile) rs73066479 0.16867
NM_000203.5(IDUA):c.942G>C (p.Ala314=) rs6830825 0.16834
NM_000203.5(IDUA):c.891C>T (p.Asn297=) rs114806891 0.04874
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) rs121965019 0.00086
NM_000203.5(IDUA):c.701G>C (p.Ser234Thr) rs201826605 0.00080
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020 0.00063
NM_000203.5(IDUA):c.494G>A (p.Gly165Asp) rs150763745 0.00043
NM_000203.5(IDUA):c.1577T>C (p.Leu526Pro) rs781136336 0.00035
NM_000203.5(IDUA):c.-71C>T rs886059748 0.00026
NM_000203.5(IDUA):c.806C>G (p.Ser269Cys) rs202051939 0.00025
NM_000203.5(IDUA):c.1861C>G (p.Arg621Gly) rs121965025 0.00013
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) rs199801029 0.00008
NM_000203.5(IDUA):c.923T>C (p.Leu308Pro) rs752337969 0.00006
NM_022042.4(SLC26A1):c.955G>A (p.Val319Met) rs558586992 0.00005
NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter) rs121965031 0.00004
NM_000203.5(IDUA):c.340C>A (p.Leu114Met) rs372934646 0.00004
NM_000203.5(IDUA):c.1270G>A (p.Ala424Thr) rs752725918 0.00003
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) rs121965021 0.00003
NM_000203.5(IDUA):c.1614del (p.His539fs) rs727503967 0.00003
NM_000203.5(IDUA):c.112C>T (p.Arg38Cys) rs950667822 0.00002
NM_000203.5(IDUA):c.1139A>G (p.Gln380Arg) rs762903007 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.1190-2A>T rs994902207 0.00001
NM_000203.5(IDUA):c.1402+1G>T rs398123254 0.00001
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg) rs772416503 0.00001
NM_000203.5(IDUA):c.152G>A (p.Gly51Asp) rs794726877 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.1898C>T (p.Ser633Leu) rs886043347 0.00001
NM_000203.5(IDUA):c.227A>G (p.Tyr76Cys) rs780165694 0.00001
NM_000203.5(IDUA):c.265C>T (p.Arg89Trp) rs754966840 0.00001
NM_000203.5(IDUA):c.266G>A (p.Arg89Gln) rs121965029 0.00001
NM_000203.5(IDUA):c.386-2A>G rs777295041 0.00001
NM_000203.5(IDUA):c.600C>G (p.Asn200Lys) rs763375487 0.00001
NM_000203.5(IDUA):c.653T>C (p.Leu218Pro) rs869025584 0.00001
NM_000203.5(IDUA):c.719A>G (p.His240Arg) rs1297784711 0.00001
NM_000203.5(IDUA):c.90C>G (p.His30Gln) rs553425887 0.00001
NM_000203.4(IDUA):c.1960T>G (p.Ter654Gly) rs387906504
NM_000203.5(IDUA):c.-4_6dup (p.Pro3fs)
NM_000203.5(IDUA):c.1014_1015insATGGCCGCGTAGG (p.Ser339delinsMetAlaAlaTer)
NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg) rs121965033
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.1049A>G (p.Asn350Ser) rs1577541140
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.1130C>T (p.Pro377Leu)
NM_000203.5(IDUA):c.1145T>A (p.Leu382Ter)
NM_000203.5(IDUA):c.117_118del (p.Leu40fs)
NM_000203.5(IDUA):c.1190-10C>A rs1443642527
NM_000203.5(IDUA):c.1190-1del
NM_000203.5(IDUA):c.1219C>T (p.Gln407Ter) rs1715178056
NM_000203.5(IDUA):c.1264del (p.Ala422fs)
NM_000203.5(IDUA):c.1269C>A (p.Ser423Arg) rs931627770
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.1469T>C (p.Leu490Pro) rs121965027
NM_000203.5(IDUA):c.1475G>C (p.Arg492Pro) rs121965026
NM_000203.5(IDUA):c.1477_1480dup (p.Val494fs)
NM_000203.5(IDUA):c.1478C>G (p.Pro493Arg) rs375819348
NM_000203.5(IDUA):c.152del (p.Gly51fs)
NM_000203.5(IDUA):c.1551del (p.Leu518fs)
NM_000203.5(IDUA):c.156C>G (p.Phe52Leu) rs1421520718
NM_000203.5(IDUA):c.159-9T>A
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.164dup (p.Leu56fs) rs727503966
NM_000203.5(IDUA):c.1655C>T (p.Thr552Met)
NM_000203.5(IDUA):c.165del (p.Leu56fs) rs2153015607
NM_000203.5(IDUA):c.1708G>C (p.Asp570His) rs1553917627
NM_000203.5(IDUA):c.1727+5G>A
NM_000203.5(IDUA):c.1743C>A (p.Tyr581Ter)
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.1855C>G (p.Arg619Gly) rs121965031
NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter) rs121965025
NM_000203.5(IDUA):c.1877G>A (p.Trp626Ter) rs1456090810
NM_000203.5(IDUA):c.1898C>A (p.Ser633Ter) rs886043347
NM_000203.5(IDUA):c.1938_1947dup (p.Pro650fs)
NM_000203.5(IDUA):c.235_240delinsACCGTG (p.Ala79Thr)
NM_000203.5(IDUA):c.24del (p.Ala9fs)
NM_000203.5(IDUA):c.256A>T (p.Lys86Ter)
NM_000203.5(IDUA):c.275G>A (p.Trp92Ter)
NM_000203.5(IDUA):c.299+1G>A
NM_000203.5(IDUA):c.2T>C (p.Met1Thr) rs753767675
NM_000203.5(IDUA):c.300-3C>G rs1226056948
NM_000203.5(IDUA):c.314G>A (p.Arg105Gln) rs3755955
NM_000203.5(IDUA):c.34_46del (p.Ala12fs)
NM_000203.5(IDUA):c.355del (p.Asp119fs)
NM_000203.5(IDUA):c.398_403del (p.Met133_Gly134del) rs774605197
NM_000203.5(IDUA):c.42_43del (p.Ala15fs)
NM_000203.5(IDUA):c.439C>T (p.Gln147Ter) rs1389029860
NM_000203.5(IDUA):c.452_453del (p.Glu151fs)
NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del) rs398123260
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.532G>A (p.Glu178Lys)
NM_000203.5(IDUA):c.539G>A (p.Trp180Ter) rs1044231895
NM_000203.5(IDUA):c.590-45G>C rs6829789
NM_000203.5(IDUA):c.590-7G>A rs762411583
NM_000203.5(IDUA):c.590-8C>T rs6848974
NM_000203.5(IDUA):c.599_608del (p.Asn200fs)
NM_000203.5(IDUA):c.603C>G (p.Tyr201Ter) rs766574778
NM_000203.5(IDUA):c.606C>A (p.Tyr202Ter) rs1033313360
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.784del (p.His262fs) rs757928590
NM_000203.5(IDUA):c.792G>A (p.Lys264=)
NM_000203.5(IDUA):c.826G>A (p.Glu276Lys)
NM_000203.5(IDUA):c.864del (p.Lys289fs)
NM_000203.5(IDUA):c.878_889dup (p.Thr293_Tyr296dup) rs779762183
NM_000203.5(IDUA):c.911del (p.Val304fs) rs2153022229
NM_000203.5(IDUA):c.94dup (p.Val32fs)
NM_000203.5(IDUA):c.973-45G>C rs6831021

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