ClinVar Miner

List of variants in gene GLUD1, SHLD2 studied for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_005271.5(GLUD1):c.-44C>T rs886047379
NM_005271.5(GLUD1):c.102G>C (p.Arg34=)
NM_005271.5(GLUD1):c.104G>A (p.Gly35Glu) rs552066337
NM_005271.5(GLUD1):c.133C>T (p.Leu45=)
NM_005271.5(GLUD1):c.136G>A (p.Ala46Thr)
NM_005271.5(GLUD1):c.154C>A (p.His52Asn) rs750420022
NM_005271.5(GLUD1):c.226C>T (p.Arg76Cys)
NM_005271.5(GLUD1):c.3G>A (p.Met1Ile)
NM_005271.5(GLUD1):c.48C>G (p.Pro16=)
NM_005271.5(GLUD1):c.55C>T (p.Leu19=)

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