ClinVar Miner

List of variants in gene IDUA reported as likely benign for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 242
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HGVS dbSNP
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>T (p.Tyr343=)
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.1041C>T (p.Ser347=)
NM_000203.5(IDUA):c.1050T>C (p.Asn350=)
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.1083G>A (p.Ala361=) rs1553917295
NM_000203.5(IDUA):c.1093C>G (p.Leu365Val) rs527336882
NM_000203.5(IDUA):c.1101G>T (p.Ala367=)
NM_000203.5(IDUA):c.1113C>A (p.Val371=)
NM_000203.5(IDUA):c.1118A>C (p.Asn373Thr) rs140564189
NM_000203.5(IDUA):c.1128G>A (p.Pro376=)
NM_000203.5(IDUA):c.1143G>A (p.Leu381=)
NM_000203.5(IDUA):c.1144T>C (p.Leu382=)
NM_000203.5(IDUA):c.1152G>A (p.Lys384=)
NM_000203.5(IDUA):c.1161C>T (p.Leu387=) rs1553917312
NM_000203.5(IDUA):c.1164G>A (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.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+7C>T
NM_000203.5(IDUA):c.1190-10C>T
NM_000203.5(IDUA):c.1190-4G>A
NM_000203.5(IDUA):c.1190-7C>T
NM_000203.5(IDUA):c.1209C>G (p.Ala403=)
NM_000203.5(IDUA):c.1218G>A (p.Ser406=)
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.1230C>A (p.Thr410=) rs115790973
NM_000203.5(IDUA):c.1230C>T (p.Thr410=)
NM_000203.5(IDUA):c.1236G>C (p.Leu412=)
NM_000203.5(IDUA):c.1260C>T (p.Val420=)
NM_000203.5(IDUA):c.1269C>T (p.Ser423=)
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.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.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.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.1402+8G>A
NM_000203.5(IDUA):c.1402+9G>T
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>T (p.Asp484=)
NM_000203.5(IDUA):c.1462C>A (p.Arg488=)
NM_000203.5(IDUA):c.1467C>G (p.Arg489=)
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.1491G>C (p.Thr497=)
NM_000203.5(IDUA):c.1491G>T (p.Thr497=) rs374102243
NM_000203.5(IDUA):c.1518G>C (p.Ala506=)
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.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.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.1584C>T (p.Pro528=) rs1553917553
NM_000203.5(IDUA):c.1587G>T (p.Ala529=) rs773184536
NM_000203.5(IDUA):c.1588C>T (p.Leu530=)
NM_000203.5(IDUA):c.1596G>A (p.Leu532=)
NM_000203.5(IDUA):c.1599G>A (p.Pro533=)
NM_000203.5(IDUA):c.1609C>T (p.Leu537=)
NM_000203.5(IDUA):c.1617C>T (p.His539=) rs774854847
NM_000203.5(IDUA):c.1632C>G (p.Pro544=)
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+8G>A
NM_000203.5(IDUA):c.1651-6C>T
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.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.1696C>T (p.Leu566=)
NM_000203.5(IDUA):c.1722C>T (p.Gly574=)
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.1728-3dup
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.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.1767T>A (p.Gly589=)
NM_000203.5(IDUA):c.1770G>A (p.Lys590=)
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.1800G>A (p.Ser600=) rs763047621
NM_000203.5(IDUA):c.1821C>T (p.Phe607=)
NM_000203.5(IDUA):c.1828+10C>G
NM_000203.5(IDUA):c.1829-4C>G
NM_000203.5(IDUA):c.1829-6C>T
NM_000203.5(IDUA):c.1848C>T (p.Gly616=)
NM_000203.5(IDUA):c.1856G>A (p.Arg619Gln) rs372137794
NM_000203.5(IDUA):c.1863A>C (p.Arg621=)
NM_000203.5(IDUA):c.1872C>T (p.Asp624=)
NM_000203.5(IDUA):c.1911G>A (p.Pro637=) rs780005721
NM_000203.5(IDUA):c.1914C>T (p.Tyr638=)
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.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.312A>C (p.Gly104=)
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>C (p.Gly116Arg)
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.369G>A (p.Glu123=)
NM_000203.5(IDUA):c.385+8G>A
NM_000203.5(IDUA):c.386-7G>A
NM_000203.5(IDUA):c.386-8T>C
NM_000203.5(IDUA):c.394C>T (p.Leu132=)
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.441G>A (p.Gln147=)
NM_000203.5(IDUA):c.468C>G (p.Val156=)
NM_000203.5(IDUA):c.475C>T (p.Leu159=)
NM_000203.5(IDUA):c.489C>T (p.Tyr163=)
NM_000203.5(IDUA):c.493+7G>A rs200509712
NM_000203.5(IDUA):c.494-9C>T
NM_000203.5(IDUA):c.505C>T (p.Leu169=)
NM_000203.5(IDUA):c.510G>A (p.Ala170=) rs754039388
NM_000203.5(IDUA):c.516T>C (p.Val172=)
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.537G>T (p.Thr179=)
NM_000203.5(IDUA):c.552C>T (p.Asp184=)
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.589+10G>A
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.590-4C>T
NM_000203.5(IDUA):c.590-8C>G rs6848974
NM_000203.5(IDUA):c.597G>T (p.Leu199=)
NM_000203.5(IDUA):c.606C>T (p.Tyr202=)
NM_000203.5(IDUA):c.612C>T (p.Ala204=)
NM_000203.5(IDUA):c.618G>T (p.Ser206=)
NM_000203.5(IDUA):c.625C>T (p.Leu209=)
NM_000203.5(IDUA):c.627G>A (p.Leu209=)
NM_000203.5(IDUA):c.639C>T (p.Ser213=)
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.675C>T (p.Phe225=) rs767436466
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.711C>T (p.Leu237=)
NM_000203.5(IDUA):c.714G>T (p.Leu238=)
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.789G>A (p.Arg263=)
NM_000203.5(IDUA):c.792+7C>A rs1577539934
NM_000203.5(IDUA):c.793-4G>T rs773734796
NM_000203.5(IDUA):c.793-8G>A
NM_000203.5(IDUA):c.793-9C>T rs375798875
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.822G>A (p.Glu274=) rs1160519179
NM_000203.5(IDUA):c.834C>A (p.Val278=)
NM_000203.5(IDUA):c.846G>A (p.Gln282=)
NM_000203.5(IDUA):c.850C>A (p.Arg284=)
NM_000203.5(IDUA):c.852G>C (p.Arg284=)
NM_000203.5(IDUA):c.858C>T (p.Leu286=) rs1577540331
NM_000203.5(IDUA):c.861C>T (p.Phe287=)
NM_000203.5(IDUA):c.879C>A (p.Thr293=)
NM_000203.5(IDUA):c.882C>T (p.Pro294=)
NM_000203.5(IDUA):c.888C>T (p.Tyr296=) rs1463865220
NM_000203.5(IDUA):c.894C>T (p.Asp298=)
NM_000203.5(IDUA):c.900G>A (p.Ala300=)
NM_000203.5(IDUA):c.903C>T (p.Asp301=) rs759390416
NM_000203.5(IDUA):c.915C>G (p.Gly305=)
NM_000203.5(IDUA):c.933G>A (p.Pro311=)
NM_000203.5(IDUA):c.939G>A (p.Arg313=) rs540430727
NM_000203.5(IDUA):c.942G>A (p.Ala314=)
NM_000203.5(IDUA):c.945C>T (p.Asp315=)
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.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.975C>A (p.Val325=)
NM_000203.5(IDUA):c.981G>T (p.Ala327=) rs372379342

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