ClinVar Miner

List of variants in gene combination GLUD1, SHLD2 reported as uncertain significance for carbohydrate metabolism disease

Included ClinVar conditions (304):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_005271.5(GLUD1):c.154C>A (p.His52Asn) rs750420022 0.00002
NM_005271.5(GLUD1):c.-44C>T rs886047379
NM_005271.5(GLUD1):c.178C>A (p.Arg60Ser)
NM_005271.5(GLUD1):c.203A>G (p.Lys68Arg)
NM_005271.5(GLUD1):c.212A>C (p.Glu71Ala)
NM_005271.5(GLUD1):c.226C>T (p.Arg76Cys) rs1841666156
NM_005271.5(GLUD1):c.240C>G (p.Ile80Met) rs2133874774
NM_005271.5(GLUD1):c.247G>A (p.Asp83Asn)
NM_005271.5(GLUD1):c.3G>A (p.Met1Ile) rs1294286511

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