ClinVar Miner

List of variants in gene IDUA studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 322
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HGVS dbSNP gnomAD frequency
NM_000203.5(IDUA):c.300-246C>T rs3755957 0.25843
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.1467C>T (p.Arg489=) rs115929690 0.16835
NM_000203.5(IDUA):c.942G>C (p.Ala314=) rs6830825 0.16834
NM_000203.5(IDUA):c.1081G>A (p.Ala361Thr) rs6831280 0.16782
NM_000203.5(IDUA):c.1164G>C (p.Thr388=) rs6836258 0.16540
NM_000203.5(IDUA):c.493+205G>A rs3733342 0.16368
NM_000203.5(IDUA):c.1524+41G>T rs188458034 0.14666
NM_000203.5(IDUA):c.891C>T (p.Asn297=) rs114806891 0.04874
NM_000203.5(IDUA):c.1727+75G>T rs2305489 0.04671
NM_000203.5(IDUA):c.300-44C>T rs3755956 0.03133
NM_000203.5(IDUA):c.493+123T>G rs116454030 0.02285
NC_000004.12:g.1004654G>A rs114307088 0.02260
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801 0.01974
NM_000203.5(IDUA):c.1174C>T (p.Leu392=) rs201682298 0.01139
NM_000203.5(IDUA):c.1582C>G (p.Pro528Ala) rs199722340 0.00862
NM_000203.5(IDUA):c.709C>T (p.Leu237Phe) rs74385837 0.00475
NM_000203.5(IDUA):c.493+132G>C rs59716967 0.00405
NM_000203.5(IDUA):c.300-242C>T rs56926094 0.00404
NM_000203.5(IDUA):c.1190-17_1190-16insA rs201559436 0.00401
NM_000203.5(IDUA):c.1728-87C>A rs73066482 0.00387
NM_000203.5(IDUA):c.1345C>A (p.His449Asn) rs532731688 0.00315
NM_000203.5(IDUA):c.346G>A (p.Gly116Arg) rs148946496 0.00289
NM_000203.5(IDUA):c.1524+24G>A rs538040010 0.00167
NM_000203.5(IDUA):c.667G>A (p.Asp223Asn) rs183347428 0.00166
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) rs121965019 0.00086
NM_000203.5(IDUA):c.408C>T (p.Ala136=) rs138195998 0.00081
NM_000203.5(IDUA):c.701G>C (p.Ser234Thr) rs201826605 0.00080
NM_000203.5(IDUA):c.1118A>C (p.Asn373Thr) rs140564189 0.00057
NM_000203.5(IDUA):c.1577T>C (p.Leu526Pro) rs781136336 0.00035
NM_000203.5(IDUA):c.806C>G (p.Ser269Cys) rs202051939 0.00025
NM_000203.5(IDUA):c.1757C>T (p.Ser586Phe) rs187833337 0.00017
NM_000203.5(IDUA):c.630C>T (p.Arg210=) rs376012666 0.00017
NM_000203.5(IDUA):c.1403-14G>T rs368368416 0.00016
NM_000203.5(IDUA):c.365G>A (p.Arg122Lys) rs200237798 0.00016
NM_000203.5(IDUA):c.406G>A (p.Ala136Thr) rs112571714 0.00015
NM_000203.5(IDUA):c.1861C>G (p.Arg621Gly) rs121965025 0.00013
NM_000203.5(IDUA):c.1781C>T (p.Pro594Leu) rs143621769 0.00011
NM_000203.5(IDUA):c.787A>T (p.Arg263Trp) rs201268637 0.00009
NM_000203.5(IDUA):c.767T>C (p.Leu256Pro) rs373037758 0.00008
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) rs199801029 0.00008
NM_000203.5(IDUA):c.1001T>G (p.Leu334Arg) rs753372554 0.00006
NM_000203.5(IDUA):c.1339C>T (p.Arg447Cys) rs866224971 0.00006
NM_000203.5(IDUA):c.1403-6C>G rs764919689 0.00006
NM_000203.5(IDUA):c.923T>C (p.Leu308Pro) rs752337969 0.00006
NM_000203.5(IDUA):c.1046A>G (p.Asp349Gly) rs371397270 0.00004
NM_000203.5(IDUA):c.1403-1G>T rs4690223 0.00004
NM_000203.5(IDUA):c.1501T>C (p.Phe501Leu) rs776590488 0.00004
NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter) rs121965031 0.00004
NM_000203.5(IDUA):c.536C>T (p.Thr179Met) rs776098539 0.00004
NM_000203.5(IDUA):c.581C>G (p.Thr194Ser) rs575667885 0.00004
NM_000203.5(IDUA):c.793-1G>A rs762779421 0.00004
NM_000203.5(IDUA):c.848T>C (p.Ile283Thr) rs555091763 0.00004
NM_000203.5(IDUA):c.1487C>T (p.Pro496Leu) rs772416503 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.1622G>T (p.Cys541Phe) rs950213013 0.00003
NM_000203.5(IDUA):c.1772C>T (p.Ala591Val) rs138826105 0.00003
NM_000203.5(IDUA):c.793G>C (p.Gly265Arg) rs369090960 0.00003
NM_000203.5(IDUA):c.1093C>G (p.Leu365Val) rs527336882 0.00002
NM_000203.5(IDUA):c.1247A>C (p.His416Pro) rs1419725967 0.00002
NM_000203.5(IDUA):c.1529C>T (p.Pro510Leu) rs794727017 0.00002
NM_000203.5(IDUA):c.1743C>G (p.Tyr581Ter) rs776787370 0.00002
NM_000203.5(IDUA):c.1828+5G>A rs565649151 0.00002
NM_000203.5(IDUA):c.1829-1G>A rs745915863 0.00002
NM_000203.5(IDUA):c.1882C>T (p.Arg628Ter) rs756572099 0.00002
NM_000203.5(IDUA):c.713T>A (p.Leu238Gln) rs148789453 0.00002
NM_000203.5(IDUA):c.1045G>A (p.Asp349Asn) rs368454909 0.00001
NM_000203.5(IDUA):c.1051G>A (p.Ala351Thr) rs772855552 0.00001
NM_000203.5(IDUA):c.1070C>T (p.Pro357Leu) rs918621189 0.00001
NM_000203.5(IDUA):c.1087C>T (p.Arg363Cys) rs750496798 0.00001
NM_000203.5(IDUA):c.1102C>T (p.Arg368Cys) rs754681846 0.00001
NM_000203.5(IDUA):c.1112T>A (p.Val371Asp) rs1475290359 0.00001
NM_000203.5(IDUA):c.1127C>T (p.Pro376Leu) rs1038727823 0.00001
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.1154C>G (p.Pro385Arg) rs1553917309 0.00001
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys) rs794727896 0.00001
NM_000203.5(IDUA):c.1163C>G (p.Thr388Arg) rs794727896 0.00001
NM_000203.5(IDUA):c.1168A>G (p.Met390Val) rs1455637147 0.00001
NM_000203.5(IDUA):c.1208C>T (p.Ala403Val) rs1253435204 0.00001
NM_000203.5(IDUA):c.1264G>C (p.Ala422Pro) rs1392555572 0.00001
NM_000203.5(IDUA):c.1402+1G>T rs398123254 0.00001
NM_000203.5(IDUA):c.1422_1423dup (p.Tyr475fs) rs761793564 0.00001
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg) rs772416503 0.00001
NM_000203.5(IDUA):c.1490C>A (p.Thr497Lys) rs1436395282 0.00001
NM_000203.5(IDUA):c.1499A>G (p.Gln500Arg) rs1715216061 0.00001
NM_000203.5(IDUA):c.1646G>T (p.Gly549Val) rs1171379194 0.00001
NM_000203.5(IDUA):c.1651G>C (p.Val551Leu) rs778877259 0.00001
NM_000203.5(IDUA):c.1717G>T (p.Val573Leu) rs146588560 0.00001
NM_000203.5(IDUA):c.1728-1G>C rs1249951282 0.00001
NM_000203.5(IDUA):c.1744G>A (p.Glu582Lys) rs762037549 0.00001
NM_000203.5(IDUA):c.1883G>C (p.Arg628Pro) rs200448421 0.00001
NM_000203.5(IDUA):c.386-2A>G rs777295041 0.00001
NM_000203.5(IDUA):c.497G>C (p.Arg166Thr) rs762623046 0.00001
NM_000203.5(IDUA):c.514G>T (p.Val172Phe) rs139155899 0.00001
NM_000203.5(IDUA):c.535A>G (p.Thr179Ala) rs766030255 0.00001
NM_000203.5(IDUA):c.619G>C (p.Glu207Gln) rs1553917102 0.00001
NM_000203.5(IDUA):c.623G>A (p.Gly208Asp) rs1430681871 0.00001
NM_000203.5(IDUA):c.649C>T (p.Arg217Trp) rs1178237301 0.00001
NM_000203.5(IDUA):c.653T>C (p.Leu218Pro) rs869025584 0.00001
NM_000203.5(IDUA):c.757G>T (p.Gly253Cys) rs546933529 0.00001
NM_000203.5(IDUA):c.784C>T (p.His262Tyr) rs375305122 0.00001
NM_000203.5(IDUA):c.788G>A (p.Arg263Lys) rs990612149 0.00001
NM_000203.5(IDUA):c.793-4G>T rs773734796 0.00001
NM_000203.5(IDUA):c.1023_1026del (p.Pro342fs)
NM_000203.5(IDUA):c.1029C>G (p.Tyr343Ter) rs764196171
NM_000203.5(IDUA):c.1039A>C (p.Ser347Arg) rs2153022349
NM_000203.5(IDUA):c.1040G>A (p.Ser347Asn)
NM_000203.5(IDUA):c.1040G>C (p.Ser347Thr) rs780106243
NM_000203.5(IDUA):c.1042_1062dup (p.Ser354_Tyr355insAsnAspAsnAlaPheLeuSer)
NM_000203.5(IDUA):c.1044C>G (p.Asn348Lys) rs746766617
NM_000203.5(IDUA):c.1045_1047del (p.Asp349del) rs1230096882
NM_000203.5(IDUA):c.1048A>G (p.Asn350Asp)
NM_000203.5(IDUA):c.1054T>C (p.Phe352Leu)
NM_000203.5(IDUA):c.1073_1093del (p.His358_Thr364del) rs1214495121
NM_000203.5(IDUA):c.1080C>A (p.Phe360Leu)
NM_000203.5(IDUA):c.1081G>C (p.Ala361Pro)
NM_000203.5(IDUA):c.1084C>T (p.Gln362Ter) rs1715144653
NM_000203.5(IDUA):c.1086_1096del (p.Gln362fs)
NM_000203.5(IDUA):c.1088G>T (p.Arg363Leu)
NM_000203.5(IDUA):c.1091C>T (p.Thr364Met) rs121965032
NM_000203.5(IDUA):c.1099_1100delinsTT (p.Ala367Leu)
NM_000203.5(IDUA):c.1103G>A (p.Arg368His)
NM_000203.5(IDUA):c.1121C>T (p.Thr374Ile)
NM_000203.5(IDUA):c.1135G>A (p.Val379Met)
NM_000203.5(IDUA):c.1135G>T (p.Val379Leu)
NM_000203.5(IDUA):c.1140G>C (p.Gln380His)
NM_000203.5(IDUA):c.1147C>G (p.Arg383Gly)
NM_000203.5(IDUA):c.1147C>T (p.Arg383Cys)
NM_000203.5(IDUA):c.1162A>C (p.Thr388Pro)
NM_000203.5(IDUA):c.1163C>T (p.Thr388Met) rs794727896
NM_000203.5(IDUA):c.1189+5G>A rs1553917318
NM_000203.5(IDUA):c.1190-10del rs150523349
NM_000203.5(IDUA):c.1190-10dup rs150523349
NM_000203.5(IDUA):c.1190-1G>A rs1715175636
NM_000203.5(IDUA):c.1214T>G (p.Val405Gly)
NM_000203.5(IDUA):c.1220_1236del (p.Gln407fs)
NM_000203.5(IDUA):c.1230C>G (p.Thr410=) rs115790973
NM_000203.5(IDUA):c.1238_1264del (p.Asp413_Leu421del) rs1168660379
NM_000203.5(IDUA):c.1244A>G (p.Asn415Ser)
NM_000203.5(IDUA):c.1258G>A (p.Val420Ile)
NM_000203.5(IDUA):c.1269C>A (p.Ser423Arg) rs931627770
NM_000203.5(IDUA):c.1271C>A (p.Ala424Asp) rs886043839
NM_000203.5(IDUA):c.1274A>T (p.His425Leu)
NM_000203.5(IDUA):c.1275C>G (p.His425Gln)
NM_000203.5(IDUA):c.1294G>A (p.Asp432Asn)
NM_000203.5(IDUA):c.1302G>C (p.Trp434Cys) rs398123253
NM_000203.5(IDUA):c.1303C>G (p.Arg435Gly) rs1188900288
NM_000203.5(IDUA):c.1303C>T (p.Arg435Cys)
NM_000203.5(IDUA):c.1304G>A (p.Arg435His)
NM_000203.5(IDUA):c.1319T>C (p.Ile440Thr)
NM_000203.5(IDUA):c.1328G>A (p.Ser443Asn)
NM_000203.5(IDUA):c.1330G>A (p.Asp444Asn)
NM_000203.5(IDUA):c.1331A>G (p.Asp444Gly)
NM_000203.5(IDUA):c.1331_1342dup (p.Arg447_Ala448insAspAspThrArg)
NM_000203.5(IDUA):c.1334A>G (p.Asp445Gly)
NM_000203.5(IDUA):c.1337C>A (p.Thr446Asn)
NM_000203.5(IDUA):c.1343_1365del (p.Ala448fs) rs2153022646
NM_000203.5(IDUA):c.1349C>G (p.Pro450Arg) rs895626490
NM_000203.5(IDUA):c.1381C>T (p.Arg461Cys)
NM_000203.5(IDUA):c.1382G>A (p.Arg461His)
NM_000203.5(IDUA):c.1402+1G>C rs398123254
NM_000203.5(IDUA):c.1412A>G (p.Tyr471Cys)
NM_000203.5(IDUA):c.1430A>G (p.Asp477Gly)
NM_000203.5(IDUA):c.1434C>A (p.Asn478Lys)
NM_000203.5(IDUA):c.1444A>G (p.Ser482Gly)
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.1478C>G (p.Pro493Arg) rs375819348
NM_000203.5(IDUA):c.1479C>A (p.Pro493=) rs370394527
NM_000203.5(IDUA):c.1479C>G (p.Pro493=) rs370394527
NM_000203.5(IDUA):c.1483T>C (p.Phe495Leu)
NM_000203.5(IDUA):c.1485C>A (p.Phe495Leu)
NM_000203.5(IDUA):c.1486C>T (p.Pro496Ser)
NM_000203.5(IDUA):c.1491G>T (p.Thr497=) rs374102243
NM_000203.5(IDUA):c.1504C>T (p.Arg502Trp)
NM_000203.5(IDUA):c.1505G>A (p.Arg502Gln) rs769566506
NM_000203.5(IDUA):c.1505G>C (p.Arg502Pro)
NM_000203.5(IDUA):c.1507C>T (p.Arg503Cys)
NM_000203.5(IDUA):c.1509C>T (p.Arg503=)
NM_000203.5(IDUA):c.1509_1511del (p.Met504del)
NM_000203.5(IDUA):c.1524+25GGGCC[2] rs572565537
NM_000203.5(IDUA):c.1524+53G>T rs113289555
NM_000203.5(IDUA):c.1525-11_1536del rs1715233169
NM_000203.5(IDUA):c.1525-3dup rs762593235
NM_000203.5(IDUA):c.1529C>G (p.Pro510Arg) rs794727017
NM_000203.5(IDUA):c.1540_1541insGGCGCGTGGCCGCGG (p.Ala513_Ala514insGlyArgValAlaAla)
NM_000203.5(IDUA):c.1568G>A (p.Arg523His)
NM_000203.5(IDUA):c.1589T>G (p.Leu530Arg)
NM_000203.5(IDUA):c.1597C>T (p.Pro533Ser)
NM_000203.5(IDUA):c.1598C>T (p.Pro533Leu) rs121965021
NM_000203.5(IDUA):c.1613T>G (p.Val538Gly)
NM_000203.5(IDUA):c.1615C>T (p.His539Tyr)
NM_000203.5(IDUA):c.1621T>C (p.Cys541Arg)
NM_000203.5(IDUA):c.1623T>A (p.Cys541Ter) rs2153022938
NM_000203.5(IDUA):c.1633del (p.Glu545fs) rs2153022944
NM_000203.5(IDUA):c.1643C>T (p.Pro548Leu)
NM_000203.5(IDUA):c.1650+1G>T rs1434521185
NM_000203.5(IDUA):c.1650+5G>A rs398123256
NM_000203.5(IDUA):c.1664G>A (p.Arg555His)
NM_000203.5(IDUA):c.1666G>C (p.Ala556Pro) rs771540729
NM_000203.5(IDUA):c.1673C>T (p.Pro558Leu)
NM_000203.5(IDUA):c.1676T>G (p.Leu559Arg)
NM_000203.5(IDUA):c.1709A>G (p.Asp570Gly)
NM_000203.5(IDUA):c.1728-2A>G rs1553917699
NM_000203.5(IDUA):c.1745A>C (p.Glu582Ala)
NM_000203.5(IDUA):c.1765G>T (p.Gly589Cys) rs144941693
NM_000203.5(IDUA):c.1766del (p.Gly589fs) rs1715293163
NM_000203.5(IDUA):c.1799del (p.Pro599_Ser600insTer) rs398123258
NM_000203.5(IDUA):c.1809C>A (p.Asn603Lys)
NM_000203.5(IDUA):c.1816G>T (p.Val606Leu)
NM_000203.5(IDUA):c.1856G>A (p.Arg619Gln) rs372137794
NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter) rs121965025
NM_000203.5(IDUA):c.1862G>A (p.Arg621Gln)
NM_000203.5(IDUA):c.1870G>T (p.Asp624Tyr)
NM_000203.5(IDUA):c.1874A>G (p.Tyr625Cys) rs587779401
NM_000203.5(IDUA):c.1882C>G (p.Arg628Gly)
NM_000203.5(IDUA):c.1883G>T (p.Arg628Leu)
NM_000203.5(IDUA):c.1898C>G (p.Ser633Trp) rs886043347
NM_000203.5(IDUA):c.1911_1931del (p.Tyr638_Pro644del)
NM_000203.5(IDUA):c.1914C>A (p.Tyr638Ter) rs768467230
NM_000203.5(IDUA):c.314G>A (p.Arg105Gln) rs3755955
NM_000203.5(IDUA):c.341T>G (p.Leu114Arg)
NM_000203.5(IDUA):c.355G>T (p.Asp119Tyr)
NM_000203.5(IDUA):c.356A>C (p.Asp119Ala)
NM_000203.5(IDUA):c.367G>A (p.Glu123Lys) rs577729544
NM_000203.5(IDUA):c.385+1G>C rs780615798
NM_000203.5(IDUA):c.386-44G>A
NM_000203.5(IDUA):c.416A>C (p.His139Pro) rs2153021706
NM_000203.5(IDUA):c.463T>G (p.Leu155Val)
NM_000203.5(IDUA):c.487T>C (p.Tyr163His)
NM_000203.5(IDUA):c.493G>A (p.Gly165Ser)
NM_000203.5(IDUA):c.494-149C>G rs3733341
NM_000203.5(IDUA):c.494-198_494-179del rs3832289
NM_000203.5(IDUA):c.494-1G>C rs794727701
NM_000203.5(IDUA):c.501C>G (p.Tyr167Ter) rs200726100
NM_000203.5(IDUA):c.502G>C (p.Gly168Arg) rs753308650
NM_000203.5(IDUA):c.514G>A (p.Val172Ile)
NM_000203.5(IDUA):c.523T>C (p.Trp175Arg) rs875989946
NM_000203.5(IDUA):c.531C>G (p.Phe177Leu)
NM_000203.5(IDUA):c.532G>A (p.Glu178Lys)
NM_000203.5(IDUA):c.532G>C (p.Glu178Gln)
NM_000203.5(IDUA):c.534G>T (p.Glu178Asp)
NM_000203.5(IDUA):c.535A>T (p.Thr179Ser)
NM_000203.5(IDUA):c.540G>A (p.Trp180Ter) rs2153021904
NM_000203.5(IDUA):c.542A>G (p.Asn181Ser)
NM_000203.5(IDUA):c.542dup (p.Asn181fs) rs1553917044
NM_000203.5(IDUA):c.547C>G (p.Pro183Ala)
NM_000203.5(IDUA):c.547C>T (p.Pro183Ser)
NM_000203.5(IDUA):c.550G>T (p.Asp184Tyr)
NM_000203.5(IDUA):c.551A>G (p.Asp184Gly)
NM_000203.5(IDUA):c.554A>C (p.His185Pro) rs1064796754
NM_000203.5(IDUA):c.570del (p.Asn190fs) rs1330366594
NM_000203.5(IDUA):c.579G>A (p.Met193Ile) rs2153021918
NM_000203.5(IDUA):c.590-45G>A rs6829789
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>G rs6848974
NM_000203.5(IDUA):c.590-8C>T rs6848974
NM_000203.5(IDUA):c.603C>G (p.Tyr201Ter) rs766574778
NM_000203.5(IDUA):c.615C>A (p.Cys205Ter) rs1715086654
NM_000203.5(IDUA):c.618G>A (p.Ser206=) rs377312287
NM_000203.5(IDUA):c.628C>G (p.Arg210Gly)
NM_000203.5(IDUA):c.629G>A (p.Arg210His)
NM_000203.5(IDUA):c.637_645dup (p.Ser213_Ala215dup) rs760582777
NM_000203.5(IDUA):c.639C>G (p.Ser213Arg) rs1383674405
NM_000203.5(IDUA):c.640_642dup (p.Pro214dup) rs764105238
NM_000203.5(IDUA):c.655G>C (p.Gly219Arg)
NM_000203.5(IDUA):c.664G>A (p.Gly222Ser)
NM_000203.5(IDUA):c.664G>T (p.Gly222Cys) rs1367413817
NM_000203.5(IDUA):c.667G>T (p.Asp223Tyr) rs183347428
NM_000203.5(IDUA):c.670T>C (p.Ser224Pro)
NM_000203.5(IDUA):c.707G>A (p.Gly236Asp)
NM_000203.5(IDUA):c.718C>G (p.His240Asp)
NM_000203.5(IDUA):c.720C>G (p.His240Gln) rs1715096917
NM_000203.5(IDUA):c.726C>A (p.His242Gln)
NM_000203.5(IDUA):c.739TTC[1] (p.Phe248del) rs764800004
NM_000203.5(IDUA):c.746C>T (p.Thr249Ile)
NM_000203.5(IDUA):c.749G>T (p.Gly250Val)
NM_000203.5(IDUA):c.758G>A (p.Gly253Asp)
NM_000203.5(IDUA):c.773A>G (p.Tyr258Cys)
NM_000203.5(IDUA):c.775A>C (p.Ile259Leu) rs2153022099
NM_000203.5(IDUA):c.782T>A (p.Leu261His)
NM_000203.5(IDUA):c.784del (p.His262fs) rs757928590
NM_000203.5(IDUA):c.785A>G (p.His262Arg)
NM_000203.5(IDUA):c.792+38_793-24del
NM_000203.5(IDUA):c.792G>T (p.Lys264Asn)
NM_000203.5(IDUA):c.793-9C>A
NM_000203.5(IDUA):c.793G>A (p.Gly265Ser)
NM_000203.5(IDUA):c.794G>A (p.Gly265Asp)
NM_000203.5(IDUA):c.806C>A (p.Ser269Tyr)
NM_000203.5(IDUA):c.814A>T (p.Ile272Phe)
NM_000203.5(IDUA):c.828G>C (p.Glu276Asp)
NM_000203.5(IDUA):c.845A>T (p.Gln282Leu) rs886042832
NM_000203.5(IDUA):c.859T>C (p.Phe287Leu)
NM_000203.5(IDUA):c.876del (p.Asp292fs) rs1553917209
NM_000203.5(IDUA):c.880C>A (p.Pro294Thr)
NM_000203.5(IDUA):c.894C>A (p.Asp298Glu)
NM_000203.5(IDUA):c.898G>A (p.Ala300Thr) rs121965030
NM_000203.5(IDUA):c.900G>A (p.Ala300=) rs1715120552
NM_000203.5(IDUA):c.904C>A (p.Pro302Thr) rs1715120993
NM_000203.5(IDUA):c.904C>T (p.Pro302Ser)
NM_000203.5(IDUA):c.920C>T (p.Ser307Phe)
NM_000203.5(IDUA):c.925C>A (p.Pro309Thr)
NM_000203.5(IDUA):c.932C>G (p.Pro311Arg)
NM_000203.5(IDUA):c.952T>C (p.Tyr318His)
NM_000203.5(IDUA):c.955G>A (p.Ala319Thr)
NM_000203.5(IDUA):c.956C>T (p.Ala319Val) rs781534097
NM_000203.5(IDUA):c.961A>G (p.Met321Val)
NM_000203.5(IDUA):c.962T>C (p.Met321Thr)
NM_000203.5(IDUA):c.965del (p.Val322fs) rs2153022263
NM_000203.5(IDUA):c.972+1G>A rs794727840
NM_000203.5(IDUA):c.973-45G>C rs6831021
NM_000203.5(IDUA):c.993C>G (p.Asn331Lys)
NM_000203.5(IDUA):c.995T>C (p.Leu332Pro) rs1222686614

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