ClinVar Miner

List of variants in gene GLUD1 reported as pathogenic for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_005271.5(GLUD1):c.1046A>C (p.Glu349Ala) rs121909735
NM_005271.5(GLUD1):c.1493C>T (p.Ser498Leu) rs121909731
NM_005271.5(GLUD1):c.1495G>A (p.Gly499Ser) rs121909733
NM_005271.5(GLUD1):c.1496G>A (p.Gly499Asp) rs121909734
NM_005271.5(GLUD1):c.1496G>T (p.Gly499Val) rs121909734
NM_005271.5(GLUD1):c.1501T>C (p.Ser501Pro) rs121909732
NM_005271.5(GLUD1):c.1507A>G (p.Lys503Glu)
NM_005271.5(GLUD1):c.1519C>T (p.His507Tyr) rs121909730
NM_005271.5(GLUD1):c.820C>T (p.Arg274Cys) rs56275071
NM_005271.5(GLUD1):c.953G>A (p.Arg318Lys) rs121909736
NM_005271.5(GLUD1):c.965G>A (p.Arg322His) rs121909737

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