ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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NM_000202.8(IDS):c.117TCT[1] (p.Leu41del)
NM_000202.8(IDS):c.121_123del (p.Leu41del)
NM_000202.8(IDS):c.1249C>T (p.Gln417Ter)
NM_000202.8(IDS):c.1254del (p.Pro419fs)
NM_000202.8(IDS):c.1259del (p.Pro420fs)
NM_000202.8(IDS):c.133G>C (p.Asp45His) rs869025301
NM_000202.8(IDS):c.1375G>T (p.Glu459Ter)
NM_000202.8(IDS):c.1436_1457dup (p.Ile487fs)
NM_000202.8(IDS):c.143G>C (p.Arg48Pro) rs1569560528
NM_000202.8(IDS):c.1442delinsTC (p.Ser481fs)
NM_000202.8(IDS):c.1478G>C (p.Arg493Pro) rs782347729
NM_000202.8(IDS):c.1504T>G (p.Trp502Gly)
NM_000202.8(IDS):c.1563A>T (p.Glu521Asp) rs1602725543
NM_000202.8(IDS):c.1568A>G (p.Tyr523Cys)
NM_000202.8(IDS):c.187A>G (p.Asn63Asp) rs193302909
NM_000202.8(IDS):c.205_206insAAACTGGCAT (p.Ser69Ter)
NM_000202.8(IDS):c.275T>C (p.Leu92Pro)
NM_000202.8(IDS):c.328A>G (p.Arg110Gly)
NM_000202.8(IDS):c.356del (p.Ile119fs)
NM_000202.8(IDS):c.359C>G (p.Pro120Arg) rs193302911

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