ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP
NM_005271.5(GLUD1):c.*1139T>C
NM_005271.5(GLUD1):c.*1181C>A
NM_005271.5(GLUD1):c.*1211T>C
NM_005271.5(GLUD1):c.*1252T>C rs886047371
NM_005271.5(GLUD1):c.*1270C>T rs886047370
NM_005271.5(GLUD1):c.*1419T>G
NM_005271.5(GLUD1):c.*1436G>A rs886047369
NM_005271.5(GLUD1):c.*1464C>T rs886047368
NM_005271.5(GLUD1):c.*1501G>C
NM_005271.5(GLUD1):c.*1515A>G
NM_005271.5(GLUD1):c.*1545C>T rs886047367
NM_005271.5(GLUD1):c.*1548C>T rs886047366
NM_005271.5(GLUD1):c.*205A>G rs886047373
NM_005271.5(GLUD1):c.*469C>A
NM_005271.5(GLUD1):c.*496G>A rs886047372
NM_005271.5(GLUD1):c.*64T>C rs760101776
NM_005271.5(GLUD1):c.*64T>G rs760101776
NM_005271.5(GLUD1):c.*868A>C
NM_005271.5(GLUD1):c.*970A>G rs760207211
NM_005271.5(GLUD1):c.*998C>T
NM_005271.5(GLUD1):c.1078_1079insAGTCCATTCTGG (p.Gly360_Phe361insGluSerIleLeu)
NM_005271.5(GLUD1):c.1100A>G (p.Tyr367Cys) rs766896575
NM_005271.5(GLUD1):c.1132A>G (p.Ile378Val) rs1589358775
NM_005271.5(GLUD1):c.1181C>T (p.Pro394Leu) rs777564388
NM_005271.5(GLUD1):c.1198-11CT[2]
NM_005271.5(GLUD1):c.1279-3T>C
NM_005271.5(GLUD1):c.1279-6G>A
NM_005271.5(GLUD1):c.1402+10G>A rs202067232
NM_005271.5(GLUD1):c.1403-11T>C rs886047374
NM_005271.5(GLUD1):c.1442A>T (p.His481Leu) rs1169592069
NM_005271.5(GLUD1):c.1494G>A (p.Ser498=)
NM_005271.5(GLUD1):c.1495G>A (p.Gly499Ser) rs121909733
NM_005271.5(GLUD1):c.1500A>G (p.Ala500=)
NM_005271.5(GLUD1):c.1515C>T (p.Ile505=) rs774771496
NM_005271.5(GLUD1):c.1557+12G>A rs201872390
NM_005271.5(GLUD1):c.1568G>A (p.Arg523His)
NM_005271.5(GLUD1):c.1652A>G (p.Asn551Ser) rs373705613
NM_005271.5(GLUD1):c.330G>A (p.Lys110=)
NM_005271.5(GLUD1):c.446-7CCA[4] rs753723749
NM_005271.5(GLUD1):c.452G>C (p.Arg151Pro)
NM_005271.5(GLUD1):c.546T>C (p.Ala182=) rs886047378
NM_005271.5(GLUD1):c.635A>G (p.Lys212Arg)
NM_005271.5(GLUD1):c.677T>G (p.Met226Arg) rs886047377
NM_005271.5(GLUD1):c.839T>C (p.Ile280Thr)
NM_005271.5(GLUD1):c.919C>T (p.Gln307Ter) rs886047375

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