ClinVar Miner

List of variants in gene IDUA studied for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 516
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HGVS dbSNP
IDUA, 1-BP DEL, 1702G
NC_000004.11:g.(?_996510)_(998355_?)del
NM_000203.3(IDUA):c.[1225G>C;1962A>T]
NM_000203.4(IDUA):c.1960T>G (p.Ter654Gly) rs387906504
NM_000203.5(IDUA):c.*100A>G
NM_000203.5(IDUA):c.1002G>A (p.Leu334=) rs370582480
NM_000203.5(IDUA):c.1011C>T (p.Thr337=)
NM_000203.5(IDUA):c.1014C>T (p.Thr338=)
NM_000203.5(IDUA):c.1029C>A (p.Tyr343Ter) rs764196171
NM_000203.5(IDUA):c.1029C>G (p.Tyr343Ter) rs764196171
NM_000203.5(IDUA):c.1029C>T (p.Tyr343=)
NM_000203.5(IDUA):c.1030G>C (p.Ala344Pro)
NM_000203.5(IDUA):c.1031C>G (p.Ala344Gly) rs202191662
NM_000203.5(IDUA):c.1032G>A (p.Ala344=)
NM_000203.5(IDUA):c.1035C>G (p.Leu345=) rs374216702
NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg) rs121965033
NM_000203.5(IDUA):c.1039A>C (p.Ser347Arg)
NM_000203.5(IDUA):c.1041C>T (p.Ser347=)
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.1046A>G (p.Asp349Gly)
NM_000203.5(IDUA):c.1049A>G (p.Asn350Ser) rs1577541140
NM_000203.5(IDUA):c.1050T>C (p.Asn350=)
NM_000203.5(IDUA):c.1051G>A (p.Ala351Thr)
NM_000203.5(IDUA):c.1052C>T (p.Ala351Val)
NM_000203.5(IDUA):c.1053C>G (p.Ala351=)
NM_000203.5(IDUA):c.1053C>T (p.Ala351=)
NM_000203.5(IDUA):c.1056C>T (p.Phe352=) rs776110061
NM_000203.5(IDUA):c.1068C>T (p.His356=) rs1577541175
NM_000203.5(IDUA):c.1073_1093del (p.His358_Thr364del) rs1214495121
NM_000203.5(IDUA):c.1081G>A (p.Ala361Thr) rs6831280
NM_000203.5(IDUA):c.1083G>A (p.Ala361=) rs1553917295
NM_000203.5(IDUA):c.1087C>T (p.Arg363Cys) rs750496798
NM_000203.5(IDUA):c.1091C>T (p.Thr364Met) rs121965032
NM_000203.5(IDUA):c.1093C>G (p.Leu365Val) rs527336882
NM_000203.5(IDUA):c.1096A>C (p.Thr366Pro) rs121965024
NM_000203.5(IDUA):c.1096_1099del (p.Thr366fs)
NM_000203.5(IDUA):c.1101G>T (p.Ala367=)
NM_000203.5(IDUA):c.1105T>C (p.Phe369Leu)
NM_000203.5(IDUA):c.1108C>T (p.Gln370Ter)
NM_000203.5(IDUA):c.1113C>A (p.Val371=)
NM_000203.5(IDUA):c.1115A>G (p.Asn372Ser) rs1553917304
NM_000203.5(IDUA):c.1115ACA[1] (p.Asn373del)
NM_000203.5(IDUA):c.1118A>C (p.Asn373Thr) rs140564189
NM_000203.5(IDUA):c.1127C>T (p.Pro376Leu)
NM_000203.5(IDUA):c.1128G>A (p.Pro376=)
NM_000203.5(IDUA):c.1139A>G (p.Gln380Arg) rs762903007
NM_000203.5(IDUA):c.1143G>A (p.Leu381=)
NM_000203.5(IDUA):c.1144T>C (p.Leu382=)
NM_000203.5(IDUA):c.1148G>A (p.Arg383His) rs754949360
NM_000203.5(IDUA):c.1149C>T (p.Arg383=)
NM_000203.5(IDUA):c.1152G>A (p.Lys384=)
NM_000203.5(IDUA):c.1154C>G (p.Pro385Arg) rs1553917309
NM_000203.5(IDUA):c.1160T>C (p.Leu387Pro) rs1553917310
NM_000203.5(IDUA):c.1161C>T (p.Leu387=) rs1553917312
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.1163C>T (p.Thr388Met) rs794727896
NM_000203.5(IDUA):c.1163del (p.Thr388fs) rs1577541504
NM_000203.5(IDUA):c.1164G>A (p.Thr388=) rs6836258
NM_000203.5(IDUA):c.1164G>C (p.Thr388=) rs6836258
NM_000203.5(IDUA):c.1164G>T (p.Thr388=)
NM_000203.5(IDUA):c.1167C>T (p.Ala389=)
NM_000203.5(IDUA):c.1168A>G (p.Met390Val)
NM_000203.5(IDUA):c.1174C>T (p.Leu392=) rs201682298
NM_000203.5(IDUA):c.1185G>A (p.Leu395=) rs1355543480
NM_000203.5(IDUA):c.1186C>T (p.Leu396=) rs1011474273
NM_000203.5(IDUA):c.1189+5G>A rs1553917318
NM_000203.5(IDUA):c.1189+7C>T
NM_000203.5(IDUA):c.1190-10C>A
NM_000203.5(IDUA):c.1190-10C>T
NM_000203.5(IDUA):c.1190-10_*10del
NM_000203.5(IDUA):c.1190-10del rs150523349
NM_000203.5(IDUA):c.1190-10dup rs150523349
NM_000203.5(IDUA):c.1190-17_1190-16insA rs201559436
NM_000203.5(IDUA):c.1190-19G>C
NM_000203.5(IDUA):c.1190-2A>T rs994902207
NM_000203.5(IDUA):c.1190-4G>A
NM_000203.5(IDUA):c.1190-7C>T
NM_000203.5(IDUA):c.1191T>G (p.Asp397Glu)
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) rs121965019
NM_000203.5(IDUA):c.1206G>A (p.Trp402Ter) rs991612107
NM_000203.5(IDUA):c.1207G>A (p.Ala403Thr)
NM_000203.5(IDUA):c.1209C>G (p.Ala403=)
NM_000203.5(IDUA):c.1210G>T (p.Glu404Ter) rs1340421020
NM_000203.5(IDUA):c.1218G>A (p.Ser406=)
NM_000203.5(IDUA):c.1219C>T (p.Gln407Ter)
NM_000203.5(IDUA):c.1224C>T (p.Ala408=) rs774488302
NM_000203.5(IDUA):c.1225G>A (p.Gly409Arg)
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801
NM_000203.5(IDUA):c.1226G>A (p.Gly409Glu) rs1465083754
NM_000203.5(IDUA):c.1227dup (p.Thr410fs)
NM_000203.5(IDUA):c.1230C>A (p.Thr410=) rs115790973
NM_000203.5(IDUA):c.1230C>G (p.Thr410=) rs115790973
NM_000203.5(IDUA):c.1230C>T (p.Thr410=)
NM_000203.5(IDUA):c.1230_1257delinsG (p.Asp413_Leu421del) rs1553917376
NM_000203.5(IDUA):c.1236G>C (p.Leu412=)
NM_000203.5(IDUA):c.1247A>C (p.His416Pro) rs1419725967
NM_000203.5(IDUA):c.1249_1275del (p.Thr417_His425del) rs1450080299
NM_000203.5(IDUA):c.1250C>A (p.Thr417Lys) rs1464048268
NM_000203.5(IDUA):c.1260C>T (p.Val420=)
NM_000203.5(IDUA):c.1264G>C (p.Ala422Pro)
NM_000203.5(IDUA):c.1269C>A (p.Ser423Arg)
NM_000203.5(IDUA):c.1269C>T (p.Ser423=)
NM_000203.5(IDUA):c.1270G>A (p.Ala424Thr)
NM_000203.5(IDUA):c.1276_1282dup (p.Gln428fs) rs1445719596
NM_000203.5(IDUA):c.1278C>T (p.Arg426=) rs890691785
NM_000203.5(IDUA):c.1293C>A (p.Ala431=)
NM_000203.5(IDUA):c.1293C>G (p.Ala431=)
NM_000203.5(IDUA):c.1293C>T (p.Ala431=) rs559676638
NM_000203.5(IDUA):c.1303C>G (p.Arg435Gly)
NM_000203.5(IDUA):c.1305C>A (p.Arg435=)
NM_000203.5(IDUA):c.1311G>C (p.Ala437=)
NM_000203.5(IDUA):c.1323C>T (p.Tyr441=) rs1463087550
NM_000203.5(IDUA):c.1326G>A (p.Ala442=)
NM_000203.5(IDUA):c.1330GAC[1] (p.Asp445del)
NM_000203.5(IDUA):c.1332C>T (p.Asp444=) rs545473192
NM_000203.5(IDUA):c.1339C>T (p.Arg447Cys)
NM_000203.5(IDUA):c.1343C>A (p.Ala448Asp)
NM_000203.5(IDUA):c.1345C>A (p.His449Asn) rs532731688
NM_000203.5(IDUA):c.1349C>A (p.Pro450His) rs895626490
NM_000203.5(IDUA):c.1349C>G (p.Pro450Arg) rs895626490
NM_000203.5(IDUA):c.1360G>A (p.Val454Ile) rs73066479
NM_000203.5(IDUA):c.1362C>A (p.Val454=)
NM_000203.5(IDUA):c.1362C>G (p.Val454=)
NM_000203.5(IDUA):c.1365G>C (p.Ala455=)
NM_000203.5(IDUA):c.1366_1389del (p.Val456_Val463del) rs1553917418
NM_000203.5(IDUA):c.1367T>G (p.Val456Gly)
NM_000203.5(IDUA):c.1368G>A (p.Val456=)
NM_000203.5(IDUA):c.1371C>T (p.Thr457=)
NM_000203.5(IDUA):c.1386G>A (p.Gly462=)
NM_000203.5(IDUA):c.1389G>A (p.Val463=)
NM_000203.5(IDUA):c.1395C>T (p.Pro465=)
NM_000203.5(IDUA):c.1395del (p.Gly466fs)
NM_000203.5(IDUA):c.1395dup (p.Gly466fs)
NM_000203.5(IDUA):c.1398C>T (p.Gly466=)
NM_000203.5(IDUA):c.1402+1G>A rs398123254
NM_000203.5(IDUA):c.1402+2T>G rs1553917428
NM_000203.5(IDUA):c.1402+8G>A
NM_000203.5(IDUA):c.1402+9G>T
NM_000203.5(IDUA):c.1403-11A>G
NM_000203.5(IDUA):c.1403-14G>T rs368368416
NM_000203.5(IDUA):c.1403-1G>T rs4690223
NM_000203.5(IDUA):c.1422_1423dup (p.Tyr475fs) rs761793564
NM_000203.5(IDUA):c.1424_1426del (p.Tyr475del) rs1553917455
NM_000203.5(IDUA):c.1425C>T (p.Tyr475=) rs370257928
NM_000203.5(IDUA):c.1437G>A (p.Gly479=)
NM_000203.5(IDUA):c.1437G>T (p.Gly479=)
NM_000203.5(IDUA):c.1440C>G (p.Leu480=)
NM_000203.5(IDUA):c.1440C>T (p.Leu480=)
NM_000203.5(IDUA):c.1449C>T (p.Pro483=)
NM_000203.5(IDUA):c.1452C>A (p.Asp484Glu)
NM_000203.5(IDUA):c.1452C>T (p.Asp484=)
NM_000203.5(IDUA):c.1456G>T (p.Glu486Ter) rs1356329915
NM_000203.5(IDUA):c.1460G>T (p.Trp487Leu)
NM_000203.5(IDUA):c.1461G>A (p.Trp487Ter)
NM_000203.5(IDUA):c.1462C>A (p.Arg488=)
NM_000203.5(IDUA):c.1467C>G (p.Arg489=)
NM_000203.5(IDUA):c.1467C>T (p.Arg489=) rs115929690
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.1477C>A (p.Pro493Thr)
NM_000203.5(IDUA):c.1478C>G (p.Pro493Arg)
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.1482C>G (p.Val494=) rs999890083
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.1491G>A (p.Thr497=)
NM_000203.5(IDUA):c.1491G>C (p.Thr497=)
NM_000203.5(IDUA):c.1491G>T (p.Thr497=) rs374102243
NM_000203.5(IDUA):c.1501T>C (p.Phe501Leu) rs776590488
NM_000203.5(IDUA):c.1518G>C (p.Ala506=)
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.1525-38T>C rs1131853
NM_000203.5(IDUA):c.1525-3dup rs762593235
NM_000203.5(IDUA):c.1525-4C>G
NM_000203.5(IDUA):c.1525-5C>T
NM_000203.5(IDUA):c.1525-6G>C
NM_000203.5(IDUA):c.1529C>T (p.Pro510Leu)
NM_000203.5(IDUA):c.1536C>T (p.Ala512=) rs1392263774
NM_000203.5(IDUA):c.1551C>G (p.Pro517=)
NM_000203.5(IDUA):c.1551C>T (p.Pro517=)
NM_000203.5(IDUA):c.1561_1570del (p.Ala520_Gly521insTer)
NM_000203.5(IDUA):c.1563C>T (p.Gly521=)
NM_000203.5(IDUA):c.1566C>T (p.Gly522=)
NM_000203.5(IDUA):c.1570C>T (p.Leu524=) rs1022872293
NM_000203.5(IDUA):c.1575C>T (p.Thr525=)
NM_000203.5(IDUA):c.1577T>C (p.Leu526Pro) rs781136336
NM_000203.5(IDUA):c.1582C>G (p.Pro528Ala) rs199722340
NM_000203.5(IDUA):c.1584C>T (p.Pro528=) rs1553917553
NM_000203.5(IDUA):c.1587G>T (p.Ala529=) rs773184536
NM_000203.5(IDUA):c.1588C>A (p.Leu530Met)
NM_000203.5(IDUA):c.1588C>T (p.Leu530=)
NM_000203.5(IDUA):c.1591del (p.Arg531fs) rs1553917558
NM_000203.5(IDUA):c.1596G>A (p.Leu532=)
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) rs121965021
NM_000203.5(IDUA):c.1598C>T (p.Pro533Leu) rs121965021
NM_000203.5(IDUA):c.1599G>A (p.Pro533=)
NM_000203.5(IDUA):c.1602del (p.Leu535fs) rs1553917566
NM_000203.5(IDUA):c.1603C>T (p.Leu535Phe) rs1577543849
NM_000203.5(IDUA):c.1609C>T (p.Leu537=)
NM_000203.5(IDUA):c.1614del (p.His539fs) rs727503967
NM_000203.5(IDUA):c.1617C>T (p.His539=) rs774854847
NM_000203.5(IDUA):c.1632C>G (p.Pro544=)
NM_000203.5(IDUA):c.1633G>A (p.Glu545Lys)
NM_000203.5(IDUA):c.1641G>A (p.Pro547=)
NM_000203.5(IDUA):c.1641G>T (p.Pro547=)
NM_000203.5(IDUA):c.1647G>A (p.Gly549=)
NM_000203.5(IDUA):c.1650+10A>G
NM_000203.5(IDUA):c.1650+12T>C
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.1650+8G>A
NM_000203.5(IDUA):c.1651-10C>T rs548878643
NM_000203.5(IDUA):c.1651-2A>G
NM_000203.5(IDUA):c.1651-6C>T
NM_000203.5(IDUA):c.1651-7C>A
NM_000203.5(IDUA):c.1651-7C>T
NM_000203.5(IDUA):c.1651-7_1651-3dup
NM_000203.5(IDUA):c.1651-9C>T
NM_000203.5(IDUA):c.1665C>T (p.Arg555=)
NM_000203.5(IDUA):c.1674C>A (p.Pro558=)
NM_000203.5(IDUA):c.1675C>T (p.Leu559=)
NM_000203.5(IDUA):c.1679C>A (p.Thr560Asn)
NM_000203.5(IDUA):c.1681C>T (p.Gln561Ter)
NM_000203.5(IDUA):c.1686G>C (p.Gly562=)
NM_000203.5(IDUA):c.1692G>C (p.Leu564=)
NM_000203.5(IDUA):c.1695T>C (p.Val565=) rs1577544372
NM_000203.5(IDUA):c.1695_1705del (p.Leu566fs)
NM_000203.5(IDUA):c.1696C>T (p.Leu566=)
NM_000203.5(IDUA):c.1708G>C (p.Asp570His) rs1553917627
NM_000203.5(IDUA):c.1717G>T (p.Val573Leu)
NM_000203.5(IDUA):c.1722C>T (p.Gly574=)
NM_000203.5(IDUA):c.1727+1G>A rs1577544451
NM_000203.5(IDUA):c.1727+4C>T rs1202966289
NM_000203.5(IDUA):c.1727+7G>A
NM_000203.5(IDUA):c.1727+9G>A
NM_000203.5(IDUA):c.1727+9G>T
NM_000203.5(IDUA):c.1728-1G>A rs1249951282
NM_000203.5(IDUA):c.1728-1G>C rs1249951282
NM_000203.5(IDUA):c.1728-2A>G rs1553917699
NM_000203.5(IDUA):c.1728-3dup
NM_000203.5(IDUA):c.1728-8C>T
NM_000203.5(IDUA):c.1728-9C>T rs374775605
NM_000203.5(IDUA):c.1734G>C (p.Leu578=)
NM_000203.5(IDUA):c.1740A>T (p.Thr580=) rs1577545150
NM_000203.5(IDUA):c.1743C>G (p.Tyr581Ter) rs776787370
NM_000203.5(IDUA):c.1750C>T (p.Gln584Ter)
NM_000203.5(IDUA):c.1757C>T (p.Ser586Phe) rs187833337
NM_000203.5(IDUA):c.1758T>C (p.Ser586=)
NM_000203.5(IDUA):c.1761G>A (p.Gln587=)
NM_000203.5(IDUA):c.1764C>T (p.Asp588=)
NM_000203.5(IDUA):c.1765G>A (p.Gly589Ser)
NM_000203.5(IDUA):c.1766del (p.Gly589fs)
NM_000203.5(IDUA):c.1767T>A (p.Gly589=)
NM_000203.5(IDUA):c.1770G>A (p.Lys590=)
NM_000203.5(IDUA):c.1773G>A (p.Ala591=) rs148894462
NM_000203.5(IDUA):c.1776C>T (p.Tyr592=)
NM_000203.5(IDUA):c.1782G>A (p.Pro594=)
NM_000203.5(IDUA):c.1785C>T (p.Val595=) rs748579220
NM_000203.5(IDUA):c.1799C>A (p.Ser600Ter)
NM_000203.5(IDUA):c.1799del (p.Pro599_Ser600insTer) rs398123258
NM_000203.5(IDUA):c.1800G>A (p.Ser600=) rs763047621
NM_000203.5(IDUA):c.1802C>T (p.Thr601Ile)
NM_000203.5(IDUA):c.1821C>T (p.Phe607=)
NM_000203.5(IDUA):c.1828+10C>G
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.1829-4C>G
NM_000203.5(IDUA):c.1829-6C>T
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.1848C>T (p.Gly616=)
NM_000203.5(IDUA):c.1854C>A (p.Tyr618Ter) rs746936485
NM_000203.5(IDUA):c.1855C>G (p.Arg619Gly) rs121965031
NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter) rs121965031
NM_000203.5(IDUA):c.1856G>A (p.Arg619Gln) rs372137794
NM_000203.5(IDUA):c.1858G>T (p.Val620Phe)
NM_000203.5(IDUA):c.1861C>G (p.Arg621Gly) rs121965025
NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter) rs121965025
NM_000203.5(IDUA):c.1862G>C (p.Arg621Pro)
NM_000203.5(IDUA):c.1863A>C (p.Arg621=)
NM_000203.5(IDUA):c.1867del (p.Leu623fs) rs1553917747
NM_000203.5(IDUA):c.1868_1892del (p.Leu623fs) rs1553917746
NM_000203.5(IDUA):c.1872C>T (p.Asp624=)
NM_000203.5(IDUA):c.1873T>C (p.Tyr625His)
NM_000203.5(IDUA):c.1874A>G (p.Tyr625Cys) rs587779401
NM_000203.5(IDUA):c.1877G>A (p.Trp626Ter)
NM_000203.5(IDUA):c.1882C>T (p.Arg628Ter) rs756572099
NM_000203.5(IDUA):c.1883G>C (p.Arg628Pro) rs200448421
NM_000203.5(IDUA):c.1888G>A (p.Gly630Ser) rs1553917753
NM_000203.5(IDUA):c.1893del (p.Phe632fs) rs1553917754
NM_000203.5(IDUA):c.1897del (p.Ser633fs) rs1553917756
NM_000203.5(IDUA):c.1898C>A (p.Ser633Ter)
NM_000203.5(IDUA):c.1898C>G (p.Ser633Trp) rs886043347
NM_000203.5(IDUA):c.1898C>T (p.Ser633Leu) rs886043347
NM_000203.5(IDUA):c.1907_1917del (p.Val636fs)
NM_000203.5(IDUA):c.1910C>T (p.Pro637Leu)
NM_000203.5(IDUA):c.1911G>A (p.Pro637=) rs780005721
NM_000203.5(IDUA):c.1914C>G (p.Tyr638Ter) rs768467230
NM_000203.5(IDUA):c.1914C>T (p.Tyr638=)
NM_000203.5(IDUA):c.1918G>T (p.Glu640Ter) rs1553917764
NM_000203.5(IDUA):c.1923C>G (p.Val641=)
NM_000203.5(IDUA):c.1929G>A (p.Val643=)
NM_000203.5(IDUA):c.1950G>T (p.Pro650=) rs112884255
NM_000203.5(IDUA):c.1959A>T (p.Pro653=) rs1264323702
NM_000203.5(IDUA):c.1960T>C (p.Ter654Arg)
NM_000203.5(IDUA):c.300-1G>A rs1553916890
NM_000203.5(IDUA):c.300-3C>G rs1226056948
NM_000203.5(IDUA):c.300-4G>A
NM_000203.5(IDUA):c.300-5T>C
NM_000203.5(IDUA):c.306C>T (p.Ser102=)
NM_000203.5(IDUA):c.306del (p.Thr103fs)
NM_000203.5(IDUA):c.312A>C (p.Gly104=)
NM_000203.5(IDUA):c.314G>A (p.Arg105Gln) rs3755955
NM_000203.5(IDUA):c.322A>T (p.Ser108Cys)
NM_000203.5(IDUA):c.324C>T (p.Ser108=)
NM_000203.5(IDUA):c.330C>T (p.Asn110=)
NM_000203.5(IDUA):c.345C>T (p.Asp115=)
NM_000203.5(IDUA):c.346G>A (p.Gly116Arg) rs148946496
NM_000203.5(IDUA):c.346G>C (p.Gly116Arg)
NM_000203.5(IDUA):c.348G>A (p.Gly116=)
NM_000203.5(IDUA):c.352C>T (p.Leu118=) rs3755954
NM_000203.5(IDUA):c.354G>C (p.Leu118=)
NM_000203.5(IDUA):c.357C>T (p.Asp119=) rs1262464994
NM_000203.5(IDUA):c.365G>A (p.Arg122Lys) rs200237798
NM_000203.5(IDUA):c.366G>A (p.Arg122=)
NM_000203.5(IDUA):c.367G>A (p.Glu123Lys) rs577729544
NM_000203.5(IDUA):c.369G>A (p.Glu123=)
NM_000203.5(IDUA):c.385+1G>C rs780615798
NM_000203.5(IDUA):c.385+8G>A
NM_000203.5(IDUA):c.386-2A>G rs777295041
NM_000203.5(IDUA):c.386-7G>A
NM_000203.5(IDUA):c.386-8T>C
NM_000203.5(IDUA):c.390del (p.Phe130fs) rs1560545883
NM_000203.5(IDUA):c.394C>T (p.Leu132=)
NM_000203.5(IDUA):c.398_403del (p.Met133_Gly134del) rs774605197
NM_000203.5(IDUA):c.399G>C (p.Met133Ile) rs558683362
NM_000203.5(IDUA):c.405C>T (p.Ser135=) rs201326626
NM_000203.5(IDUA):c.406G>A (p.Ala136Thr)
NM_000203.5(IDUA):c.408C>G (p.Ala136=)
NM_000203.5(IDUA):c.408C>T (p.Ala136=) rs138195998
NM_000203.5(IDUA):c.411G>A (p.Ser137=)
NM_000203.5(IDUA):c.413G>A (p.Gly138Asp)
NM_000203.5(IDUA):c.439C>T (p.Gln147Ter)
NM_000203.5(IDUA):c.441G>A (p.Gln147=)
NM_000203.5(IDUA):c.457A>T (p.Lys153Ter)
NM_000203.5(IDUA):c.468C>G (p.Val156=)
NM_000203.5(IDUA):c.475C>T (p.Leu159=)
NM_000203.5(IDUA):c.485G>A (p.Arg162Lys) rs1553916949
NM_000203.5(IDUA):c.488dup (p.Tyr163Ter) rs1553916950
NM_000203.5(IDUA):c.489C>T (p.Tyr163=)
NM_000203.5(IDUA):c.493+10C>T rs200000194
NM_000203.5(IDUA):c.493+1G>A rs1553916957
NM_000203.5(IDUA):c.493+6C>G
NM_000203.5(IDUA):c.493+6C>T
NM_000203.5(IDUA):c.493+7G>A rs200509712
NM_000203.5(IDUA):c.494-1G>A rs794727701
NM_000203.5(IDUA):c.494-9C>T
NM_000203.5(IDUA):c.494G>A (p.Gly165Asp)
NM_000203.5(IDUA):c.505C>T (p.Leu169=)
NM_000203.5(IDUA):c.510G>A (p.Ala170=) rs754039388
NM_000203.5(IDUA):c.512_513del (p.His171fs)
NM_000203.5(IDUA):c.516T>C (p.Val172=)
NM_000203.5(IDUA):c.523T>C (p.Trp175Arg) rs875989946
NM_000203.5(IDUA):c.525G>A (p.Trp175Ter)
NM_000203.5(IDUA):c.528C>T (p.Asn176=)
NM_000203.5(IDUA):c.531C>T (p.Phe177=)
NM_000203.5(IDUA):c.534G>A (p.Glu178=) rs762533612
NM_000203.5(IDUA):c.536C>G (p.Thr179Arg) rs776098539
NM_000203.5(IDUA):c.537G>T (p.Thr179=)
NM_000203.5(IDUA):c.539G>A (p.Trp180Ter)
NM_000203.5(IDUA):c.539G>C (p.Trp180Ser)
NM_000203.5(IDUA):c.542dup (p.Asn181fs) rs1553917044
NM_000203.5(IDUA):c.543T>C (p.Asn181=) rs6815946
NM_000203.5(IDUA):c.548C>G (p.Pro183Arg) rs1238128027
NM_000203.5(IDUA):c.552C>T (p.Asp184=)
NM_000203.5(IDUA):c.557A>G (p.His186Arg)
NM_000203.5(IDUA):c.558C>T (p.His186=) rs1164118339
NM_000203.5(IDUA):c.573C>T (p.Val191=) rs1560546652
NM_000203.5(IDUA):c.585dup (p.Gln196fs)
NM_000203.5(IDUA):c.589+10G>A
NM_000203.5(IDUA):c.589+1G>A rs1293215555
NM_000203.5(IDUA):c.589+8C>T
NM_000203.5(IDUA):c.589+8_590-51dup
NM_000203.5(IDUA):c.590-10C>T
NM_000203.5(IDUA):c.590-2A>G
NM_000203.5(IDUA):c.590-4C>T
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.590G>A (p.Gly197Asp) rs770087890
NM_000203.5(IDUA):c.597G>T (p.Leu199=)
NM_000203.5(IDUA):c.601TAC[3] (p.Tyr202dup) rs1553917091
NM_000203.5(IDUA):c.606C>A (p.Tyr202Ter) rs1033313360
NM_000203.5(IDUA):c.606C>G (p.Tyr202Ter)
NM_000203.5(IDUA):c.606C>T (p.Tyr202=)
NM_000203.5(IDUA):c.612C>T (p.Ala204=)
NM_000203.5(IDUA):c.612_615dup (p.Ser206fs) rs875989947
NM_000203.5(IDUA):c.613_617dup (p.Glu207fs) rs786200915
NM_000203.5(IDUA):c.615C>A (p.Cys205Ter)
NM_000203.5(IDUA):c.618G>A (p.Ser206=)
NM_000203.5(IDUA):c.618G>T (p.Ser206=)
NM_000203.5(IDUA):c.623G>A (p.Gly208Asp) rs1430681871
NM_000203.5(IDUA):c.625C>T (p.Leu209=)
NM_000203.5(IDUA):c.627G>A (p.Leu209=)
NM_000203.5(IDUA):c.630C>T (p.Arg210=) rs376012666
NM_000203.5(IDUA):c.637_645dup (p.Ser213_Ala215dup) rs760582777
NM_000203.5(IDUA):c.639C>T (p.Ser213=)
NM_000203.5(IDUA):c.640_642dup (p.Pro214dup) rs764105238
NM_000203.5(IDUA):c.649C>T (p.Arg217Trp)
NM_000203.5(IDUA):c.653T>C (p.Leu218Pro) rs869025584
NM_000203.5(IDUA):c.663C>G (p.Pro221=) rs368553582
NM_000203.5(IDUA):c.663C>T (p.Pro221=)
NM_000203.5(IDUA):c.666C>T (p.Gly222=) rs200411359
NM_000203.5(IDUA):c.667G>A (p.Asp223Asn) rs183347428
NM_000203.5(IDUA):c.675C>T (p.Phe225=) rs767436466
NM_000203.5(IDUA):c.682C>T (p.Pro228Ser)
NM_000203.5(IDUA):c.687G>A (p.Pro229=)
NM_000203.5(IDUA):c.693C>A (p.Ser231=)
NM_000203.5(IDUA):c.693C>T (p.Ser231=) rs529773032
NM_000203.5(IDUA):c.696G>A (p.Pro232=)
NM_000203.5(IDUA):c.701G>C (p.Ser234Thr) rs201826605
NM_000203.5(IDUA):c.708C>A (p.Gly236=)
NM_000203.5(IDUA):c.709C>T (p.Leu237Phe) rs74385837
NM_000203.5(IDUA):c.711C>T (p.Leu237=)
NM_000203.5(IDUA):c.713T>A (p.Leu238Gln) rs148789453
NM_000203.5(IDUA):c.714G>T (p.Leu238=)
NM_000203.5(IDUA):c.715C>A (p.Arg239Ser)
NM_000203.5(IDUA):c.719A>G (p.His240Arg)
NM_000203.5(IDUA):c.720C>G (p.His240Gln)
NM_000203.5(IDUA):c.739TTC[1] (p.Phe248del) rs764800004
NM_000203.5(IDUA):c.744C>T (p.Phe248=)
NM_000203.5(IDUA):c.756G>A (p.Ala252=)
NM_000203.5(IDUA):c.757G>T (p.Gly253Cys) rs546933529
NM_000203.5(IDUA):c.765G>C (p.Arg255=) rs965929339
NM_000203.5(IDUA):c.770A>G (p.Asp257Gly)
NM_000203.5(IDUA):c.784C>T (p.His262Tyr)
NM_000203.5(IDUA):c.784del (p.His262fs)
NM_000203.5(IDUA):c.787A>T (p.Arg263Trp) rs201268637
NM_000203.5(IDUA):c.789G>A (p.Arg263=)
NM_000203.5(IDUA):c.792+7C>A rs1577539934
NM_000203.5(IDUA):c.793-10C>G rs886059754
NM_000203.5(IDUA):c.793-1G>A rs762779421
NM_000203.5(IDUA):c.793-4G>T rs773734796
NM_000203.5(IDUA):c.793-5C>T
NM_000203.5(IDUA):c.793-8G>A
NM_000203.5(IDUA):c.793-9C>T rs375798875
NM_000203.5(IDUA):c.793G>C (p.Gly265Arg) rs369090960
NM_000203.5(IDUA):c.798G>A (p.Ala266=)
NM_000203.5(IDUA):c.801C>T (p.Arg267=)
NM_000203.5(IDUA):c.804C>T (p.Ser268=)
NM_000203.5(IDUA):c.806C>G (p.Ser269Cys)
NM_000203.5(IDUA):c.812C>T (p.Ser271Phe) rs766950553
NM_000203.5(IDUA):c.814A>C (p.Ile272Leu) rs536381533
NM_000203.5(IDUA):c.820G>T (p.Glu274Ter) rs1553917192
NM_000203.5(IDUA):c.822G>A (p.Glu274=) rs1160519179
NM_000203.5(IDUA):c.834C>A (p.Val278=)
NM_000203.5(IDUA):c.837C>T (p.Val279=)
NM_000203.5(IDUA):c.846G>A (p.Gln282=)
NM_000203.5(IDUA):c.850C>A (p.Arg284=)
NM_000203.5(IDUA):c.850C>T (p.Arg284Trp)
NM_000203.5(IDUA):c.852G>C (p.Arg284=)
NM_000203.5(IDUA):c.853del (p.Gln285fs)
NM_000203.5(IDUA):c.858C>T (p.Leu286=) rs1577540331
NM_000203.5(IDUA):c.860T>G (p.Phe287Cys)
NM_000203.5(IDUA):c.861C>T (p.Phe287=)
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.879C>A (p.Thr293=)
NM_000203.5(IDUA):c.882C>T (p.Pro294=)
NM_000203.5(IDUA):c.882dup (p.Ile295fs)
NM_000203.5(IDUA):c.886_894dup (p.Tyr296_Asp298dup) rs1553917216
NM_000203.5(IDUA):c.888C>T (p.Tyr296=) rs1463865220
NM_000203.5(IDUA):c.891C>T (p.Asn297=) rs114806891
NM_000203.5(IDUA):c.894C>T (p.Asp298=)
NM_000203.5(IDUA):c.895G>T (p.Glu299Ter)
NM_000203.5(IDUA):c.898G>A (p.Ala300Thr) rs121965030
NM_000203.5(IDUA):c.900G>A (p.Ala300=)
NM_000203.5(IDUA):c.903C>T (p.Asp301=) rs759390416
NM_000203.5(IDUA):c.904C>A (p.Pro302Thr)
NM_000203.5(IDUA):c.905del (p.Pro302fs)
NM_000203.5(IDUA):c.910del (p.Val304fs)
NM_000203.5(IDUA):c.915C>G (p.Gly305=)
NM_000203.5(IDUA):c.923T>C (p.Leu308Pro) rs752337969
NM_000203.5(IDUA):c.928C>T (p.Gln310Ter) rs121965023
NM_000203.5(IDUA):c.932C>T (p.Pro311Leu) rs377684568
NM_000203.5(IDUA):c.933G>A (p.Pro311=)
NM_000203.5(IDUA):c.936G>A (p.Trp312Ter)
NM_000203.5(IDUA):c.939G>A (p.Arg313=) rs540430727
NM_000203.5(IDUA):c.942G>A (p.Ala314=)
NM_000203.5(IDUA):c.942G>C (p.Ala314=) rs6830825
NM_000203.5(IDUA):c.945C>T (p.Asp315=)
NM_000203.5(IDUA):c.946G>A (p.Val316Met) rs755445369
NM_000203.5(IDUA):c.948G>T (p.Val316=)
NM_000203.5(IDUA):c.951C>T (p.Thr317=) rs1577540556
NM_000203.5(IDUA):c.957G>C (p.Ala319=) rs748350723
NM_000203.5(IDUA):c.964G>T (p.Val322Leu)
NM_000203.5(IDUA):c.965T>A (p.Val322Glu) rs76722191
NM_000203.5(IDUA):c.969G>A (p.Val323=)
NM_000203.5(IDUA):c.972+7C>A
NM_000203.5(IDUA):c.972+8G>A
NM_000203.5(IDUA):c.973-4G>A rs745832717
NM_000203.5(IDUA):c.975C>A (p.Val325=)
NM_000203.5(IDUA):c.975_980del (p.Ile326_Ala327del) rs1553917253
NM_000203.5(IDUA):c.977T>C (p.Ile326Thr) rs1461992821
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) rs199801029
NM_000203.5(IDUA):c.981G>T (p.Ala327=) rs372379342
NM_000203.5(IDUA):c.995T>C (p.Leu332Pro)

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.