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: 336
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000203.5(IDUA):c.300-246C>T rs3755957 0.24953
NM_000203.5(IDUA):c.1525-38T>C rs1131853 0.21794
NM_000203.5(IDUA):c.352C>T (p.Leu118=) rs3755954 0.21694
NM_000203.5(IDUA):c.972+48A>G rs6811373 0.17458
NM_000203.5(IDUA):c.942G>C (p.Ala314=) rs6830825 0.17199
NM_000203.5(IDUA):c.1727+72T>G rs2305488 0.17150
NM_000203.5(IDUA):c.1081G>A (p.Ala361Thr) rs6831280 0.17147
NM_000203.5(IDUA):c.1402+36T>C rs115134980 0.17107
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.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 0.14873
NM_000203.5(IDUA):c.891C>T (p.Asn297=) rs114806891 0.04874
NM_000203.5(IDUA):c.1727+75G>T rs2305489 0.04661
NM_000203.5(IDUA):c.300-44C>T rs3755956 0.03215
NM_000203.5(IDUA):c.493+123T>G rs116454030 0.02285
NC_000004.12:g.1004654G>A rs114307088 0.02107
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 0.00809
NM_000203.5(IDUA):c.709C>T (p.Leu237Phe) rs74385837 0.00475
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.493+132G>C rs59716967 0.00388
NM_000203.5(IDUA):c.1728-87C>A rs73066482 0.00387
NM_000203.5(IDUA):c.1345C>A (p.His449Asn) rs532731688 0.00297
NM_000203.5(IDUA):c.346G>A (p.Gly116Arg) rs148946496 0.00289
NM_000203.5(IDUA):c.965T>A (p.Val322Glu) rs76722191 0.00271
NM_000203.5(IDUA):c.1403-14G>T rs368368416 0.00215
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 0.00076
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.406G>A (p.Ala136Thr) rs112571714 0.00017
NM_000203.5(IDUA):c.630C>T (p.Arg210=) rs376012666 0.00017
NM_000203.5(IDUA):c.670T>C (p.Ser224Pro) rs367813829 0.00017
NM_000203.5(IDUA):c.365G>A (p.Arg122Lys) rs200237798 0.00016
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 0.00010
NM_000203.5(IDUA):c.932C>T (p.Pro311Leu) rs377684568 0.00010
NM_000203.5(IDUA):c.767T>C (p.Leu256Pro) rs373037758 0.00007
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) rs199801029 0.00007
NM_000203.5(IDUA):c.1001T>G (p.Leu334Arg) rs753372554 0.00006
NM_000203.5(IDUA):c.1772C>T (p.Ala591Val) rs138826105 0.00006
NM_000203.5(IDUA):c.1046A>G (p.Asp349Gly) rs371397270 0.00005
NM_000203.5(IDUA):c.1339C>T (p.Arg447Cys) rs866224971 0.00005
NM_000203.5(IDUA):c.1403-6C>G rs764919689 0.00005
NM_000203.5(IDUA):c.923T>C (p.Leu308Pro) rs752337969 0.00005
NM_000203.5(IDUA):c.1395C>T (p.Pro465=) rs1324471292 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.1507C>T (p.Arg503Cys) rs1047330206 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.590-7G>A rs762411583 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.1709A>G (p.Asp570Gly) rs753905054 0.00003
NM_000203.5(IDUA):c.1828+5G>A rs565649151 0.00003
NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter) rs121965031 0.00003
NM_000203.5(IDUA):c.613T>A (p.Cys205Ser) rs140294059 0.00003
NM_000203.5(IDUA):c.629G>A (p.Arg210His) rs371021597 0.00003
NM_000203.5(IDUA):c.793-1G>A rs762779421 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.1163C>G (p.Thr388Arg) rs794727896 0.00002
NM_000203.5(IDUA):c.1247A>C (p.His416Pro) rs1419725967 0.00002
NM_000203.5(IDUA):c.1349C>A (p.Pro450His) rs895626490 0.00002
NM_000203.5(IDUA):c.1504C>T (p.Arg502Trp) rs570594115 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.1829-1G>A rs745915863 0.00002
NM_000203.5(IDUA):c.1882C>T (p.Arg628Ter) rs756572099 0.00002
NM_000203.5(IDUA):c.341T>G (p.Leu114Arg) rs775542391 0.00002
NM_000203.5(IDUA):c.356A>C (p.Asp119Ala) rs537047205 0.00002
NM_000203.5(IDUA):c.707G>A (p.Gly236Asp) rs1250362489 0.00002
NM_000203.5(IDUA):c.713T>A (p.Leu238Gln) rs148789453 0.00002
NM_000203.5(IDUA):c.955G>A (p.Ala319Thr) rs374699130 0.00002
NM_000203.5(IDUA):c.1040G>A (p.Ser347Asn) rs780106243 0.00001
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.1127C>T (p.Pro376Leu) rs1038727823 0.00001
NM_000203.5(IDUA):c.1139A>G (p.Gln380Arg) rs762903007 0.00001
NM_000203.5(IDUA):c.1147C>T (p.Arg383Cys) rs751396984 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.1168A>G (p.Met390Val) rs1455637147 0.00001
NM_000203.5(IDUA):c.1208C>T (p.Ala403Val) rs1253435204 0.00001
NM_000203.5(IDUA):c.1214T>G (p.Val405Gly) rs1715177435 0.00001
NM_000203.5(IDUA):c.1264G>C (p.Ala422Pro) rs1392555572 0.00001
NM_000203.5(IDUA):c.1304G>A (p.Arg435His) rs1036950284 0.00001
NM_000203.5(IDUA):c.1331A>G (p.Asp444Gly) rs1316884593 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.1430A>G (p.Asp477Gly) rs749645656 0.00001
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro) rs121965027 0.00001
NM_000203.5(IDUA):c.1485C>A (p.Phe495Leu) rs746018077 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.1597C>T (p.Pro533Ser) rs374779600 0.00001
NM_000203.5(IDUA):c.1615C>T (p.His539Tyr) rs766982215 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.1664G>A (p.Arg555His) rs776276938 0.00001
NM_000203.5(IDUA):c.1673C>T (p.Pro558Leu) rs759777644 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.1802C>T (p.Thr601Ile) rs200089576 0.00001
NM_000203.5(IDUA):c.1816G>T (p.Val606Leu) rs547144863 0.00001
NM_000203.5(IDUA):c.1862G>A (p.Arg621Gln) rs762399936 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.487T>C (p.Tyr163His) rs1466543112 0.00001
NM_000203.5(IDUA):c.497G>C (p.Arg166Thr) rs762623046 0.00001
NM_000203.5(IDUA):c.502G>C (p.Gly168Arg) rs753308650 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.547C>T (p.Pro183Ser) rs757706461 0.00001
NM_000203.5(IDUA):c.570del (p.Asn190fs) rs1330366594 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.664G>A (p.Gly222Ser) rs1367413817 0.00001
NM_000203.5(IDUA):c.757G>T (p.Gly253Cys) rs546933529 0.00001
NM_000203.5(IDUA):c.782T>A (p.Leu261His) rs1656615837 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.794G>A (p.Gly265Asp) rs931510421 0.00001
NM_000203.5(IDUA):c.848T>C (p.Ile283Thr) rs555091763 0.00001
NM_000203.5(IDUA):c.859T>C (p.Phe287Leu) rs1301982320 0.00001
NM_000203.5(IDUA):c.876del (p.Asp292fs) rs1553917209 0.00001
NM_000203.5(IDUA):c.898G>A (p.Ala300Thr) rs121965030 0.00001
NM_000203.5(IDUA):c.920C>T (p.Ser307Phe) rs113373271 0.00001
NM_000203.5(IDUA):c.925C>A (p.Pro309Thr) rs750893089 0.00001
NM_000203.5(IDUA):c.962T>C (p.Met321Thr) rs777732506 0.00001
NM_000203.5(IDUA):c.993C>G (p.Asn331Lys) rs1318917960 0.00001
NM_000203.5(IDUA):c.1023_1026del (p.Pro342fs) rs2534089112
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>C (p.Ser347Thr) rs780106243
NM_000203.5(IDUA):c.1042_1062dup (p.Ser354_Tyr355insAsnAspAsnAlaPheLeuSer) rs1378699648
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) rs747827435
NM_000203.5(IDUA):c.1054T>C (p.Phe352Leu) rs772448566
NM_000203.5(IDUA):c.1073_1093del (p.His358_Thr364del) rs1214495121
NM_000203.5(IDUA):c.1080C>A (p.Phe360Leu) rs1715144134
NM_000203.5(IDUA):c.1081G>C (p.Ala361Pro) rs6831280
NM_000203.5(IDUA):c.1084C>T (p.Gln362Ter) rs1715144653
NM_000203.5(IDUA):c.1086_1096del (p.Gln362fs) rs2534089588
NM_000203.5(IDUA):c.1088G>T (p.Arg363Leu) rs1416427527
NM_000203.5(IDUA):c.1091C>T (p.Thr364Met) rs121965032
NM_000203.5(IDUA):c.1099_1100delinsTT (p.Ala367Leu) rs2534089715
NM_000203.5(IDUA):c.1103G>A (p.Arg368His) rs781149866
NM_000203.5(IDUA):c.1112T>A (p.Val371Asp) rs1475290359
NM_000203.5(IDUA):c.1121C>T (p.Thr374Ile) rs2534089920
NM_000203.5(IDUA):c.1135G>A (p.Val379Met) rs1271868719
NM_000203.5(IDUA):c.1135G>T (p.Val379Leu) rs1271868719
NM_000203.5(IDUA):c.1140G>C (p.Gln380His) rs1280484403
NM_000203.5(IDUA):c.1147C>G (p.Arg383Gly) rs751396984
NM_000203.5(IDUA):c.1162A>C (p.Thr388Pro) rs2534090235
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.1220_1236del (p.Gln407fs) rs2534092430
NM_000203.5(IDUA):c.1225G>A (p.Gly409Arg) rs11934801
NM_000203.5(IDUA):c.1227dup (p.Thr410fs) rs1715179164
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) rs2534092636
NM_000203.5(IDUA):c.1258G>A (p.Val420Ile) rs1029767148
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) rs1294331782
NM_000203.5(IDUA):c.1275C>G (p.His425Gln) rs1338561459
NM_000203.5(IDUA):c.1294G>A (p.Asp432Asn) rs1485492553
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) rs1188900288
NM_000203.5(IDUA):c.1319T>C (p.Ile440Thr) rs2534093181
NM_000203.5(IDUA):c.1328G>A (p.Ser443Asn) rs753372256
NM_000203.5(IDUA):c.1330G>A (p.Asp444Asn) rs571833399
NM_000203.5(IDUA):c.1331_1342dup (p.Arg447_Ala448insAspAspThrArg) rs1434999845
NM_000203.5(IDUA):c.1334A>G (p.Asp445Gly) rs1715189170
NM_000203.5(IDUA):c.1337C>A (p.Thr446Asn) rs1295530132
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) rs1031256595
NM_000203.5(IDUA):c.1382G>A (p.Arg461His) rs2534093752
NM_000203.5(IDUA):c.1395del (p.Gly466fs) rs1386109118
NM_000203.5(IDUA):c.1402+1G>C rs398123254
NM_000203.5(IDUA):c.1412A>G (p.Tyr471Cys) rs1715204964
NM_000203.5(IDUA):c.1434C>A (p.Asn478Lys) rs779159727
NM_000203.5(IDUA):c.1444A>G (p.Ser482Gly) rs776480687
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) rs2534095371
NM_000203.5(IDUA):c.1486C>T (p.Pro496Ser) rs2534095408
NM_000203.5(IDUA):c.1491G>T (p.Thr497=) rs374102243
NM_000203.5(IDUA):c.1505G>A (p.Arg502Gln) rs769566506
NM_000203.5(IDUA):c.1505G>C (p.Arg502Pro) rs769566506
NM_000203.5(IDUA):c.1509C>T (p.Arg503=) rs2534095551
NM_000203.5(IDUA):c.1509_1511del (p.Met504del) rs2534095558
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) rs1715235369
NM_000203.5(IDUA):c.1561G>A (p.Gly521Ser) rs1358581212
NM_000203.5(IDUA):c.1568G>A (p.Arg523His) rs1018687587
NM_000203.5(IDUA):c.1589T>G (p.Leu530Arg) rs2534097702
NM_000203.5(IDUA):c.1598C>T (p.Pro533Leu) rs121965021
NM_000203.5(IDUA):c.1613T>G (p.Val538Gly) rs2534097946
NM_000203.5(IDUA):c.1621T>C (p.Cys541Arg) rs2534098043
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) rs2153022950
NM_000203.5(IDUA):c.1650+1G>T rs1434521185
NM_000203.5(IDUA):c.1650+5G>A rs398123256
NM_000203.5(IDUA):c.1666G>C (p.Ala556Pro) rs771540729
NM_000203.5(IDUA):c.1674C>T (p.Pro558=) rs767943753
NM_000203.5(IDUA):c.1676T>G (p.Leu559Arg) rs2534099489
NM_000203.5(IDUA):c.1728-2A>G rs1553917699
NM_000203.5(IDUA):c.1745A>C (p.Glu582Ala) rs2534102302
NM_000203.5(IDUA):c.1765G>T (p.Gly589Cys) rs144941693
NM_000203.5(IDUA):c.1766del (p.Gly589fs) rs1715293163
NM_000203.5(IDUA):c.1782G>A (p.Pro594=) rs781543137
NM_000203.5(IDUA):c.1799del (p.Pro599_Ser600insTer) rs398123258
NM_000203.5(IDUA):c.1809C>A (p.Asn603Lys) rs2153023208
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.1870G>T (p.Asp624Tyr) rs1715311906
NM_000203.5(IDUA):c.1874A>G (p.Tyr625Cys) rs587779401
NM_000203.5(IDUA):c.1882C>G (p.Arg628Gly) rs756572099
NM_000203.5(IDUA):c.1883G>T (p.Arg628Leu) rs200448421
NM_000203.5(IDUA):c.1898C>G (p.Ser633Trp) rs886043347
NM_000203.5(IDUA):c.1911_1931del (p.Tyr638_Pro644del) rs2534104525
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.355G>T (p.Asp119Tyr) rs765255638
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 rs376679458
NM_000203.5(IDUA):c.416A>C (p.His139Pro) rs2153021706
NM_000203.5(IDUA):c.463T>G (p.Leu155Val) rs1459786307
NM_000203.5(IDUA):c.493G>A (p.Gly165Ser) rs748326989
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.514G>A (p.Val172Ile) rs139155899
NM_000203.5(IDUA):c.523T>C (p.Trp175Arg) rs875989946
NM_000203.5(IDUA):c.531C>G (p.Phe177Leu) rs769331894
NM_000203.5(IDUA):c.532G>A (p.Glu178Lys) rs992336192
NM_000203.5(IDUA):c.532G>C (p.Glu178Gln) rs992336192
NM_000203.5(IDUA):c.534G>T (p.Glu178Asp) rs762533612
NM_000203.5(IDUA):c.535A>T (p.Thr179Ser) rs766030255
NM_000203.5(IDUA):c.540G>A (p.Trp180Ter) rs2153021904
NM_000203.5(IDUA):c.542A>G (p.Asn181Ser) rs1715072314
NM_000203.5(IDUA):c.542dup (p.Asn181fs) rs1553917044
NM_000203.5(IDUA):c.547C>G (p.Pro183Ala) rs757706461
NM_000203.5(IDUA):c.550G>T (p.Asp184Tyr) rs1715073200
NM_000203.5(IDUA):c.551A>G (p.Asp184Gly) rs2534083036
NM_000203.5(IDUA):c.554A>C (p.His185Pro) rs1064796754
NM_000203.5(IDUA):c.568_581del (p.Asn190fs) rs759639526
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.590-8C>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.625C>T (p.Leu209=) rs2153021997
NM_000203.5(IDUA):c.628C>G (p.Arg210Gly) rs992408218
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) rs2534084817
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.718C>G (p.His240Asp) rs1374359136
NM_000203.5(IDUA):c.720C>G (p.His240Gln) rs1715096917
NM_000203.5(IDUA):c.726C>A (p.His242Gln) rs2534085348
NM_000203.5(IDUA):c.739TTC[1] (p.Phe248del) rs764800004
NM_000203.5(IDUA):c.746C>T (p.Thr249Ile) rs760812013
NM_000203.5(IDUA):c.749G>T (p.Gly250Val) rs2534085614
NM_000203.5(IDUA):c.758G>A (p.Gly253Asp) rs1167839388
NM_000203.5(IDUA):c.773A>G (p.Tyr258Cys) rs1230294335
NM_000203.5(IDUA):c.775A>C (p.Ile259Leu) rs2153022099
NM_000203.5(IDUA):c.784del (p.His262fs) rs757928590
NM_000203.5(IDUA):c.785A>G (p.His262Arg) rs1031451164
NM_000203.5(IDUA):c.792+38_793-24del rs2534086499
NM_000203.5(IDUA):c.792G>T (p.Lys264Asn) rs2534086164
NM_000203.5(IDUA):c.793-9C>A rs375798875
NM_000203.5(IDUA):c.793G>A (p.Gly265Ser) rs369090960
NM_000203.5(IDUA):c.806C>A (p.Ser269Tyr) rs202051939
NM_000203.5(IDUA):c.814A>T (p.Ile272Phe) rs536381533
NM_000203.5(IDUA):c.828G>C (p.Glu276Asp) rs779448832
NM_000203.5(IDUA):c.845A>T (p.Gln282Leu) rs886042832
NM_000203.5(IDUA):c.880C>A (p.Pro294Thr) rs1473703840
NM_000203.5(IDUA):c.894C>A (p.Asp298Glu) rs1031564096
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) rs1715120993
NM_000203.5(IDUA):c.932C>G (p.Pro311Arg) rs377684568
NM_000203.5(IDUA):c.952T>C (p.Tyr318His) rs2534088071
NM_000203.5(IDUA):c.956C>T (p.Ala319Val) rs781534097
NM_000203.5(IDUA):c.961A>G (p.Met321Val) rs756173284
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.995T>C (p.Leu332Pro) rs1222686614

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.