ClinVar Miner

List of variants reported as 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: 23
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NM_000202.8(IDS):c.1047C>A (p.Ser349Arg)
NM_000202.8(IDS):c.1264T>C (p.Cys422Arg) rs199422229
NM_000202.8(IDS):c.1327C>T (p.Arg443Ter) rs199422227
NM_000202.8(IDS):c.1402C>T (p.Arg468Trp) rs199422231
NM_000202.8(IDS):c.1403G>A (p.Arg468Gln) rs113993946
NM_000202.8(IDS):c.1425G>A (p.Trp475Ter) rs199422230
NM_000202.8(IDS):c.162T>A (p.Tyr54Ter)
NM_000202.8(IDS):c.196C>T (p.Gln66Ter) rs1557340403
NM_000202.8(IDS):c.223C>T (p.Gln75Ter)
NM_000202.8(IDS):c.252C>G (p.Cys84Trp)
NM_000202.8(IDS):c.253G>A (p.Ala85Thr) rs113993949
NM_000202.8(IDS):c.257C>G (p.Pro86Arg)
NM_000202.8(IDS):c.262C>T (p.Arg88Cys) rs398123249
NM_000202.8(IDS):c.263G>A (p.Arg88His)
NM_000202.8(IDS):c.514C>T (p.Arg172Ter) rs104894860
NM_000202.8(IDS):c.683C>T (p.Pro228Leu)
NM_000202.8(IDS):c.998C>T (p.Ser333Leu) rs104894853
NM_001040716.2(PC):c.2668G>T (p.Val890Phe) rs1555014957

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