ClinVar Miner

List of variants in gene IDS reported as likely pathogenic for carbohydrate metabolism disease

Included ClinVar conditions (302):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 174
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HGVS dbSNP gnomAD frequency
NM_000202.8(IDS):c.418+12T>C rs470986 0.00178
NM_000202.8(IDS):c.301C>T (p.Arg101Cys) rs782738754 0.00004
NM_000202.8(IDS):c.1478G>A (p.Arg493His) rs782347729 0.00002
NM_000202.8(IDS):c.1477C>T (p.Arg493Cys) rs782190885 0.00001
NM_000202.8(IDS):c.103G>C (p.Asp35His) rs2089514224
NM_000202.8(IDS):c.104-1_104delinsT rs2089505743
NM_000202.8(IDS):c.104-2A>G rs2089505773
NM_000202.8(IDS):c.104-3T>G
NM_000202.8(IDS):c.111_112insGA (p.Asn38fs)
NM_000202.8(IDS):c.117TCT[1] (p.Leu41del) rs2089505317
NM_000202.8(IDS):c.1181-15C>A
NM_000202.8(IDS):c.1181-1G>A rs864622777
NM_000202.8(IDS):c.1181-5_1186del
NM_000202.8(IDS):c.1181_1192del (p.Gly394_Met398delinsVal)
NM_000202.8(IDS):c.1197_1250dup (p.Leu416_Gln417insHisLeuValGluLeuValSerLeuPheProThrLeuAlaGlyLeuAlaGlyLeu)
NM_000202.8(IDS):c.1202_1203del (p.Val401fs)
NM_000202.8(IDS):c.1204G>A (p.Glu402Lys)
NM_000202.8(IDS):c.1208T>G (p.Leu403Arg)
NM_000202.8(IDS):c.1212_1215dup (p.Leu406fs)
NM_000202.8(IDS):c.121_123del (p.Leu41del) rs2124066296
NM_000202.8(IDS):c.1222delinsTA (p.Pro408fs)
NM_000202.8(IDS):c.1224_1225insGGG (p.Pro408_Thr409insGly)
NM_000202.8(IDS):c.1226C>G (p.Thr409Arg)
NM_000202.8(IDS):c.1229T>C (p.Leu410Pro)
NM_000202.8(IDS):c.1229del (p.Leu410fs)
NM_000202.8(IDS):c.122T>C (p.Leu41Pro)
NM_000202.8(IDS):c.1234_1460del (p.Gly412fs)
NM_000202.8(IDS):c.1249C>T (p.Gln417Ter) rs2123994961
NM_000202.8(IDS):c.1254del (p.Pro419fs) rs2123994946
NM_000202.8(IDS):c.1259del (p.Pro420fs) rs2089307675
NM_000202.8(IDS):c.1264T>C (p.Cys422Arg) rs199422229
NM_000202.8(IDS):c.1264T>G (p.Cys422Gly) rs199422229
NM_000202.8(IDS):c.1265G>A (p.Cys422Tyr) rs886044835
NM_000202.8(IDS):c.1265G>T (p.Cys422Phe) rs886044835
NM_000202.8(IDS):c.1267C>T (p.Pro423Ser)
NM_000202.8(IDS):c.1268_1269dup (p.Val424fs)
NM_000202.8(IDS):c.1269del (p.Val424fs)
NM_000202.8(IDS):c.1270_1271del (p.Val424fs)
NM_000202.8(IDS):c.1272del (p.Pro425fs) rs2123994828
NM_000202.8(IDS):c.1294_1295dup (p.Arg433fs)
NM_000202.8(IDS):c.1298_1306del (p.Arg433_Gly435del)
NM_000202.8(IDS):c.1300G>A (p.Glu434Lys)
NM_000202.8(IDS):c.1300_1306dup (p.Lys436fs)
NM_000202.8(IDS):c.1316del (p.Leu439fs) rs2123994709
NM_000202.8(IDS):c.1326dup (p.Arg443fs)
NM_000202.8(IDS):c.133G>C (p.Asp45His) rs869025301
NM_000202.8(IDS):c.1341G>T (p.Leu447Phe)
NM_000202.8(IDS):c.1345_1349del (p.Glu449fs)
NM_000202.8(IDS):c.1349_1364del (p.Asp450fs)
NM_000202.8(IDS):c.134A>G (p.Asp45Gly)
NM_000202.8(IDS):c.134A>T (p.Asp45Val)
NM_000202.8(IDS):c.136G>T (p.Asp46Tyr) rs2089504816
NM_000202.8(IDS):c.1375G>T (p.Glu459Ter) rs2123994508
NM_000202.8(IDS):c.1390_1398del (p.Ser464_Tyr466del)
NM_000202.8(IDS):c.1392C>G (p.Ser464Arg)
NM_000202.8(IDS):c.1394A>C (p.Gln465Pro)
NM_000202.8(IDS):c.1394A>T (p.Gln465Leu) rs113993951
NM_000202.8(IDS):c.1400C>G (p.Pro467Arg) rs1602725808
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp) rs199422231
NM_000202.8(IDS):c.1402del (p.Arg468fs) rs2123994397
NM_000202.8(IDS):c.1406C>A (p.Pro469His)
NM_000202.8(IDS):c.1406C>G (p.Pro469Arg)
NM_000202.8(IDS):c.1406C>T (p.Pro469Leu) rs2123994360
NM_000202.8(IDS):c.1409_1410del (p.Pro469_Ser470insTer)
NM_000202.8(IDS):c.140T>C (p.Leu47Pro)
NM_000202.8(IDS):c.1411G>C (p.Asp471His) rs2089305507
NM_000202.8(IDS):c.1418C>T (p.Pro473Leu) rs2089305403
NM_000202.8(IDS):c.1425G>A (p.Trp475Ter) rs199422230
NM_000202.8(IDS):c.1426_1437del (p.Asn476_Lys479del) rs2089305217
NM_000202.8(IDS):c.142C>T (p.Arg48Cys)
NM_000202.8(IDS):c.1432G>A (p.Asp478Asn)
NM_000202.8(IDS):c.1432G>C (p.Asp478His)
NM_000202.8(IDS):c.1432G>T (p.Asp478Tyr)
NM_000202.8(IDS):c.1433A>G (p.Asp478Gly) rs864622773
NM_000202.8(IDS):c.1436_1457dup (p.Ile487fs) rs2123994213
NM_000202.8(IDS):c.1439C>T (p.Pro480Leu) rs2123994251
NM_000202.8(IDS):c.143G>C (p.Arg48Pro) rs1569560528
NM_000202.8(IDS):c.1442delinsTC (p.Ser481fs) rs2123994237
NM_000202.8(IDS):c.1453dup (p.Ile485fs)
NM_000202.8(IDS):c.1454T>A (p.Ile485Lys) rs782430567
NM_000202.8(IDS):c.1463T>G (p.Met488Arg)
NM_000202.8(IDS):c.1464G>T (p.Met488Ile) rs104894862
NM_000202.8(IDS):c.1469A>C (p.Tyr490Ser)
NM_000202.8(IDS):c.1470T>G (p.Tyr490Ter) rs2123994176
NM_000202.8(IDS):c.1472C>A (p.Ser491Tyr)
NM_000202.8(IDS):c.1472C>T (p.Ser491Phe)
NM_000202.8(IDS):c.1480_1481insTATTCCATATACTATATGGAATACTATATAGGTATT (p.Thr494delinsIlePheHisIleLeuTyrGlyIleLeuTyrArgTyrSer)
NM_000202.8(IDS):c.1484_1485insTA (p.Asp496fs)
NM_000202.8(IDS):c.1493G>C (p.Arg498Thr)
NM_000202.8(IDS):c.1494del (p.Arg498fs)
NM_000202.8(IDS):c.1497T>G (p.Tyr499Ter) rs2089304408
NM_000202.8(IDS):c.1504T>G (p.Trp502Gly) rs2089304297
NM_000202.8(IDS):c.1505G>A (p.Trp502Ter) rs199422228
NM_000202.8(IDS):c.1506G>T (p.Trp502Cys) rs2124648374
NM_000202.8(IDS):c.1508T>A (p.Val503Asp) rs398123248
NM_000202.8(IDS):c.1561G>A (p.Glu521Lys) rs2124648301
NM_000202.8(IDS):c.1562A>T (p.Glu521Val)
NM_000202.8(IDS):c.1563A>T (p.Glu521Asp) rs1602725543
NM_000202.8(IDS):c.1565T>C (p.Leu522Pro)
NM_000202.8(IDS):c.1568A>G (p.Tyr523Cys) rs2089303696
NM_000202.8(IDS):c.1585C>T (p.Pro529Ser)
NM_000202.8(IDS):c.1591C>T (p.Gln531Ter) rs886044837
NM_000202.8(IDS):c.1600A>C (p.Asn534His)
NM_000202.8(IDS):c.1601A>T (p.Asn534Ile)
NM_000202.8(IDS):c.1608T>A (p.Tyr536Ter)
NM_000202.8(IDS):c.160T>G (p.Tyr54Asp)
NM_000202.8(IDS):c.181T>C (p.Ser61Pro) rs113993955
NM_000202.8(IDS):c.182C>A (p.Ser61Tyr)
NM_000202.8(IDS):c.182C>T (p.Ser61Phe) rs2124065955
NM_000202.8(IDS):c.187A>G (p.Asn63Asp) rs193302909
NM_000202.8(IDS):c.200T>C (p.Leu67Pro)
NM_000202.8(IDS):c.200T>G (p.Leu67Arg)
NM_000202.8(IDS):c.203C>A (p.Ala68Glu)
NM_000202.8(IDS):c.205_206insAAACTGGCAT (p.Ser69Ter) rs2124065847
NM_000202.8(IDS):c.212G>A (p.Ser71Asn) rs113993954
NM_000202.8(IDS):c.212G>T (p.Ser71Ile) rs113993954
NM_000202.8(IDS):c.213C>A (p.Ser71Arg)
NM_000202.8(IDS):c.213C>G (p.Ser71Arg)
NM_000202.8(IDS):c.214CTC[1] (p.Leu73del)
NM_000202.8(IDS):c.215T>C (p.Leu72Pro)
NM_000202.8(IDS):c.236C>A (p.Ala79Glu)
NM_000202.8(IDS):c.238C>A (p.Gln80Lys)
NM_000202.8(IDS):c.239A>G (p.Gln80Arg)
NM_000202.8(IDS):c.240+2_240+3insTCCCAGA
NM_000202.8(IDS):c.241-10T>G
NM_000202.8(IDS):c.241-3C>G rs2124063783
NM_000202.8(IDS):c.241-9C>G rs2089497858
NM_000202.8(IDS):c.245C>A (p.Ala82Glu)
NM_000202.8(IDS):c.248T>G (p.Val83Gly) rs1569560525
NM_000202.8(IDS):c.251G>A (p.Cys84Tyr)
NM_000202.8(IDS):c.252C>G (p.Cys84Trp) rs1557340286
NM_000202.8(IDS):c.253G>A (p.Ala85Thr) rs113993949
NM_000202.8(IDS):c.254C>T (p.Ala85Val)
NM_000202.8(IDS):c.260G>A (p.Ser87Asn)
NM_000202.8(IDS):c.263G>A (p.Arg88His) rs2089497431
NM_000202.8(IDS):c.265G>T (p.Val89Phe)
NM_000202.8(IDS):c.268T>C (p.Ser90Pro)
NM_000202.8(IDS):c.275T>C (p.Leu92Pro) rs2089497300
NM_000202.8(IDS):c.275T>G (p.Leu92Arg)
NM_000202.8(IDS):c.281G>A (p.Gly94Asp)
NM_000202.8(IDS):c.285_287del (p.Arg96del)
NM_000202.8(IDS):c.290C>G (p.Pro97Arg)
NM_000202.8(IDS):c.292del (p.Asp98fs)
NM_000202.8(IDS):c.305T>C (p.Leu102Pro) rs1557340261
NM_000202.8(IDS):c.305T>G (p.Leu102Arg)
NM_000202.8(IDS):c.307T>G (p.Tyr103Asp) rs2089496667
NM_000202.8(IDS):c.322T>G (p.Tyr108Asp)
NM_000202.8(IDS):c.323A>C (p.Tyr108Ser)
NM_000202.8(IDS):c.323A>G (p.Tyr108Cys)
NM_000202.8(IDS):c.325T>C (p.Trp109Arg)
NM_000202.8(IDS):c.325T>G (p.Trp109Gly)
NM_000202.8(IDS):c.327G>T (p.Trp109Cys)
NM_000202.8(IDS):c.328A>G (p.Arg110Gly) rs2124063287
NM_000202.8(IDS):c.341del (p.Gly114fs)
NM_000202.8(IDS):c.350C>A (p.Ser117Tyr)
NM_000202.8(IDS):c.350CCA[1] (p.Thr118del)
NM_000202.8(IDS):c.353C>T (p.Thr118Ile)
NM_000202.8(IDS):c.356del (p.Ile119fs) rs2124063133
NM_000202.8(IDS):c.359C>A (p.Pro120His) rs193302911
NM_000202.8(IDS):c.361C>A (p.Gln121Lys)
NM_000202.8(IDS):c.362A>G (p.Gln121Arg)
NM_000202.8(IDS):c.363G>C (p.Gln121His)
NM_000202.8(IDS):c.369_372del (p.Phe123fs)
NM_000202.8(IDS):c.374A>T (p.Glu125Val)
NM_000202.8(IDS):c.389C>T (p.Thr130Ile) rs1557340233
NM_000202.8(IDS):c.395C>G (p.Ser132Trp)
NM_000202.8(IDS):c.400G>A (p.Gly134Arg)
NM_000202.8(IDS):c.400G>C (p.Gly134Arg)
NM_000202.8(IDS):c.401G>A (p.Gly134Glu) rs193302910
NM_000202.8(IDS):c.401G>T (p.Gly134Val)
NM_000202.8(IDS):c.404A>G (p.Lys135Arg) rs104894861
NM_000202.8(IDS):c.412C>T (p.His138Tyr)
NM_000202.8(IDS):c.418+3A>T
NM_000202.8:c.1123_1182del

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