ClinVar Miner

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

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 138
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HGVS dbSNP gnomAD frequency
NM_000202.8(IDS):c.126C>T (p.Ile42=) rs146963087 0.00117
NM_000202.8(IDS):c.123C>G (p.Leu41=) rs146904022 0.00115
NM_000202.8(IDS):c.336C>T (p.His112=) rs138687038 0.00073
NM_000202.8(IDS):c.396G>A (p.Ser132=) rs147108245 0.00063
NM_000202.8(IDS):c.104A>G (p.Asp35Gly) rs144081417 0.00019
NM_000202.8(IDS):c.103+7C>T rs369735286 0.00013
NM_000202.8(IDS):c.1227G>A (p.Thr409=) rs201905166 0.00009
NM_000202.8(IDS):c.234T>C (p.Phe78=) rs782290556 0.00009
NM_000202.8(IDS):c.304C>T (p.Leu102=) rs782790524 0.00008
NM_000202.8(IDS):c.357C>T (p.Ile119=) rs782362742 0.00006
NM_000202.8(IDS):c.103+6G>A rs781956472 0.00005
NM_000202.8(IDS):c.1248G>A (p.Leu416=) rs1306764023 0.00005
NM_000202.8(IDS):c.104-9C>G rs371864469 0.00004
NM_000202.8(IDS):c.162T>C (p.Tyr54=) rs141088021 0.00004
NM_000202.8(IDS):c.246A>G (p.Ala82=) rs1447255384 0.00004
NM_000202.8(IDS):c.301C>T (p.Arg101Cys) rs782738754 0.00004
NM_000202.8(IDS):c.1270G>A (p.Val424Ile) rs373820890 0.00003
NM_000202.8(IDS):c.1284C>T (p.His428=) rs782163574 0.00003
NM_000202.8(IDS):c.1372C>T (p.Arg458Cys) rs782340858 0.00003
NM_000202.8(IDS):c.309C>T (p.Tyr103=) rs1174495581 0.00003
NM_000202.8(IDS):c.147C>T (p.Pro49=) rs1557340415 0.00002
NM_000202.8(IDS):c.1560G>A (p.Gly520=) rs782724941 0.00002
NM_000202.8(IDS):c.1642T>C (p.Leu548=) rs1557337560 0.00002
NM_000202.8(IDS):c.189T>C (p.Asn63=) rs782083523 0.00002
NM_000202.8(IDS):c.240+13A>G rs782621152 0.00002
NM_000202.8(IDS):c.264C>T (p.Arg88=) rs375362189 0.00002
NM_000202.8(IDS):c.97A>T (p.Thr33Ser) rs782158763 0.00002
NM_000202.8(IDS):c.103+12G>A rs782156440 0.00001
NM_000202.8(IDS):c.114C>T (p.Asn38=) rs149512799 0.00001
NM_000202.8(IDS):c.1181-19C>G rs1557337665 0.00001
NM_000202.8(IDS):c.1254T>G (p.Val418=) rs1557337653 0.00001
NM_000202.8(IDS):c.1257A>G (p.Pro419=) rs782066597 0.00001
NM_000202.8(IDS):c.1353G>A (p.Pro451=) rs920711197 0.00001
NM_000202.8(IDS):c.1477C>T (p.Arg493Cys) rs782190885 0.00001
NM_000202.8(IDS):c.1536T>A (p.Ala512=) rs782673868 0.00001
NM_000202.8(IDS):c.1623T>G (p.Gly541=) rs1557337565 0.00001
NM_000202.8(IDS):c.198A>G (p.Gln66=) rs1557340398 0.00001
NM_000202.8(IDS):c.237G>A (p.Ala79=) rs782183418 0.00001
NM_000202.8(IDS):c.252C>T (p.Cys84=) rs1557340286 0.00001
NM_000202.8(IDS):c.285G>A (p.Arg95=) rs782779732 0.00001
NM_000202.8(IDS):c.103+11C>T
NM_000202.8(IDS):c.103+13C>G
NM_000202.8(IDS):c.103+14C>T
NM_000202.8(IDS):c.103+19C>T
NM_000202.8(IDS):c.103+9C>T
NM_000202.8(IDS):c.104-10T>A
NM_000202.8(IDS):c.104-16C>G
NM_000202.8(IDS):c.104-16C>T
NM_000202.8(IDS):c.104-17C>T
NM_000202.8(IDS):c.104-19G>A
NM_000202.8(IDS):c.104-4G>A rs2124066481
NM_000202.8(IDS):c.108T>G (p.Ala36=) rs2089505645
NM_000202.8(IDS):c.1188A>G (p.Gln396=) rs2123995158
NM_000202.8(IDS):c.1191C>T (p.Ser397=)
NM_000202.8(IDS):c.1196A>T (p.Asp399Val)
NM_000202.8(IDS):c.1197C>T (p.Asp399=)
NM_000202.8(IDS):c.1203G>A (p.Val401=)
NM_000202.8(IDS):c.1212G>C (p.Val404=) rs2123995105
NM_000202.8(IDS):c.1222C>G (p.Pro408Ala)
NM_000202.8(IDS):c.1222C>T (p.Pro408Ser)
NM_000202.8(IDS):c.1226C>T (p.Thr409Met)
NM_000202.8(IDS):c.1248G>T (p.Leu416=)
NM_000202.8(IDS):c.1275T>A (p.Pro425=)
NM_000202.8(IDS):c.1293G>A (p.Leu431=) rs782203657
NM_000202.8(IDS):c.1297A>G (p.Arg433Gly) rs2089307094
NM_000202.8(IDS):c.129C>T (p.Ile43=) rs2124066238
NM_000202.8(IDS):c.1317G>T (p.Leu439=)
NM_000202.8(IDS):c.1333C>T (p.Arg445Cys)
NM_000202.8(IDS):c.1334G>A (p.Arg445His)
NM_000202.8(IDS):c.1335T>C (p.Arg445=)
NM_000202.8(IDS):c.1338C>T (p.Asp446=)
NM_000202.8(IDS):c.1352C>G (p.Pro451Arg)
NM_000202.8(IDS):c.1353G>C (p.Pro451=) rs920711197
NM_000202.8(IDS):c.1371C>G (p.Pro457=)
NM_000202.8(IDS):c.1378C>T (p.Leu460=)
NM_000202.8(IDS):c.1380G>A (p.Leu460=)
NM_000202.8(IDS):c.1389T>C (p.Tyr463=)
NM_000202.8(IDS):c.1395G>A (p.Gln465=) rs2123994427
NM_000202.8(IDS):c.1416C>T (p.Ile472=) rs2123994324
NM_000202.8(IDS):c.1422G>A (p.Gln474=) rs1569560371
NM_000202.8(IDS):c.1434C>T (p.Asp478=)
NM_000202.8(IDS):c.1440G>A (p.Pro480=)
NM_000202.8(IDS):c.1443T>C (p.Ser481=)
NM_000202.8(IDS):c.1452T>C (p.Asp484=)
NM_000202.8(IDS):c.1479C>T (p.Arg493=)
NM_000202.8(IDS):c.147C>G (p.Pro49=) rs1557340415
NM_000202.8(IDS):c.1482C>T (p.Thr494=) rs2123994147
NM_000202.8(IDS):c.1500T>A (p.Thr500=)
NM_000202.8(IDS):c.1500T>C (p.Thr500=) rs1602725629
NM_000202.8(IDS):c.1503G>C (p.Val501=)
NM_000202.8(IDS):c.151C>T (p.Leu51=) rs1340608360
NM_000202.8(IDS):c.1531C>T (p.Leu511=)
NM_000202.8(IDS):c.1536T>C (p.Ala512=) rs782673868
NM_000202.8(IDS):c.1539C>T (p.Asn513=)
NM_000202.8(IDS):c.1564C>T (p.Leu522=) rs2124648290
NM_000202.8(IDS):c.156C>T (p.Gly52=) rs2089504569
NM_000202.8(IDS):c.1584C>T (p.Asp528=) rs2124648280
NM_000202.8(IDS):c.1587A>G (p.Pro529=)
NM_000202.8(IDS):c.1588T>C (p.Leu530=)
NM_000202.8(IDS):c.1608T>C (p.Tyr536=) rs2089303285
NM_000202.8(IDS):c.1617C>T (p.Ser539=) rs782717602
NM_000202.8(IDS):c.1626A>C (p.Gly542=)
NM_000202.8(IDS):c.1629T>C (p.Asp543=)
NM_000202.8(IDS):c.165G>A (p.Gly55=)
NM_000202.8(IDS):c.171G>A (p.Lys57=)
NM_000202.8(IDS):c.172C>T (p.Leu58=)
NM_000202.8(IDS):c.183C>A (p.Ser61=)
NM_000202.8(IDS):c.183C>T (p.Ser61=) rs2124065941
NM_000202.8(IDS):c.207C>T (p.Ser69=)
NM_000202.8(IDS):c.213C>T (p.Ser71=)
NM_000202.8(IDS):c.222C>T (p.Phe74=)
NM_000202.8(IDS):c.231C>T (p.Ala77=) rs1602749217
NM_000202.8(IDS):c.240+11del
NM_000202.8(IDS):c.240+12A>G
NM_000202.8(IDS):c.240+14C>T
NM_000202.8(IDS):c.240+20G>A
NM_000202.8(IDS):c.240+7C>T rs2124065624
NM_000202.8(IDS):c.241-14C>G
NM_000202.8(IDS):c.241-16T>C
NM_000202.8(IDS):c.241-5A>G
NM_000202.8(IDS):c.241-6T>G
NM_000202.8(IDS):c.241-7C>T rs2124063828
NM_000202.8(IDS):c.258G>A (p.Pro86=)
NM_000202.8(IDS):c.300C>T (p.Thr100=) rs2124063502
NM_000202.8(IDS):c.306G>A (p.Leu102=)
NM_000202.8(IDS):c.312C>T (p.Asp104=) rs2124063377
NM_000202.8(IDS):c.315C>T (p.Phe105=) rs2124063363
NM_000202.8(IDS):c.333G>T (p.Val111=) rs2124063244
NM_000202.8(IDS):c.360C>G (p.Pro120=)
NM_000202.8(IDS):c.378T>C (p.Asn126=) rs2124063034
NM_000202.8(IDS):c.414C>T (p.His138=) rs1602748259
NM_000202.8(IDS):c.418+10C>T
NM_000202.8(IDS):c.418+11A>G
NM_000202.8(IDS):c.418+14T>A
NM_000202.8(IDS):c.418+20G>T
NM_000202.8(IDS):c.418+8T>C
NM_000202.8(IDS):c.418+9C>G
NM_000202.8(IDS):c.92A>G (p.Asn31Ser)

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