ClinVar Miner

List of variants reported as likely pathogenic for carbohydrate metabolism disease by Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000202.8(IDS):c.1001A>G (p.Asp334Gly)
NM_000202.8(IDS):c.1122C>T (p.Gly374=) rs113993948
NM_000202.8(IDS):c.117TCT[1] (p.Leu41del)
NM_000202.8(IDS):c.1568A>G (p.Tyr523Cys)
NM_000202.8(IDS):c.187A>G (p.Asn63Asp) rs193302909
NM_000202.8(IDS):c.275T>C (p.Leu92Pro)
NM_000202.8(IDS):c.692C>G (p.Pro231Arg)
NM_000340.2(SLC2A2):c.1246G>A (p.Gly416Ser) rs1553785033

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