ClinVar Miner

List of variants in gene IDS 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: 50
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HGVS dbSNP
NM_000202.8(IDS):c.103+6G>A
NM_000202.8(IDS):c.104-4G>A
NM_000202.8(IDS):c.104-9C>G
NM_000202.8(IDS):c.108T>G (p.Ala36=)
NM_000202.8(IDS):c.1248G>A (p.Leu416=) rs1306764023
NM_000202.8(IDS):c.1257A>G (p.Pro419=)
NM_000202.8(IDS):c.1284C>T (p.His428=) rs782163574
NM_000202.8(IDS):c.1293G>A (p.Leu431=) rs782203657
NM_000202.8(IDS):c.129C>T (p.Ile43=)
NM_000202.8(IDS):c.1353G>A (p.Pro451=)
NM_000202.8(IDS):c.1353G>C (p.Pro451=)
NM_000202.8(IDS):c.1372C>T (p.Arg458Cys) rs782340858
NM_000202.8(IDS):c.1395G>A (p.Gln465=)
NM_000202.8(IDS):c.1416C>T (p.Ile472=)
NM_000202.8(IDS):c.1422G>A (p.Gln474=)
NM_000202.8(IDS):c.147C>T (p.Pro49=)
NM_000202.8(IDS):c.1482C>T (p.Thr494=)
NM_000202.8(IDS):c.1500T>C (p.Thr500=) rs1602725629
NM_000202.8(IDS):c.151C>T (p.Leu51=)
NM_000202.8(IDS):c.1536T>A (p.Ala512=)
NM_000202.8(IDS):c.1536T>C (p.Ala512=)
NM_000202.8(IDS):c.1560G>A (p.Gly520=)
NM_000202.8(IDS):c.156C>T (p.Gly52=)
NM_000202.8(IDS):c.1584C>T (p.Asp528=)
NM_000202.8(IDS):c.1608T>C (p.Tyr536=)
NM_000202.8(IDS):c.1623T>G (p.Gly541=)
NM_000202.8(IDS):c.162T>C (p.Tyr54=) rs141088021
NM_000202.8(IDS):c.1642T>C (p.Leu548=)
NM_000202.8(IDS):c.183C>T (p.Ser61=)
NM_000202.8(IDS):c.189T>C (p.Asn63=)
NM_000202.8(IDS):c.18C>T (p.Thr6=)
NM_000202.8(IDS):c.231C>T (p.Ala77=) rs1602749217
NM_000202.8(IDS):c.237G>A (p.Ala79=) rs782183418
NM_000202.8(IDS):c.23G>T (p.Arg8Leu) rs782621858
NM_000202.8(IDS):c.240+7C>T
NM_000202.8(IDS):c.241-7C>T
NM_000202.8(IDS):c.246A>G (p.Ala82=)
NM_000202.8(IDS):c.252C>T (p.Cys84=)
NM_000202.8(IDS):c.285G>A (p.Arg95=)
NM_000202.8(IDS):c.300C>T (p.Thr100=)
NM_000202.8(IDS):c.309C>T (p.Tyr103=)
NM_000202.8(IDS):c.315C>T (p.Phe105=)
NM_000202.8(IDS):c.333G>T (p.Val111=)
NM_000202.8(IDS):c.336C>T (p.His112=) rs138687038
NM_000202.8(IDS):c.357C>T (p.Ile119=) rs782362742
NM_000202.8(IDS):c.414C>T (p.His138=) rs1602748259
NM_000202.8(IDS):c.49C>T (p.Leu17=)
NM_000202.8(IDS):c.51G>C (p.Leu17=)
NM_000202.8(IDS):c.69C>T (p.Ala23=) rs1602750461
NM_000202.8(IDS):c.97A>T (p.Thr33Ser) rs782158763

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