ClinVar Miner

List of variants in gene GLUD1 studied for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 79
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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.*1282G>C rs181931207
NM_005271.5(GLUD1):c.*1379C>T
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.*355T>G rs569595849
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.*852A>G rs150260124
NM_005271.5(GLUD1):c.*868A>C
NM_005271.5(GLUD1):c.*908T>C rs140942830
NM_005271.5(GLUD1):c.*970A>G rs760207211
NM_005271.5(GLUD1):c.*972G>A rs12980
NM_005271.5(GLUD1):c.*998C>T
NM_005271.5(GLUD1):c.1046A>C (p.Glu349Ala) rs121909735
NM_005271.5(GLUD1):c.1060-10T>A rs17096421
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.1344T>C (p.His448=)
NM_005271.5(GLUD1):c.1402+10G>A rs202067232
NM_005271.5(GLUD1):c.1403-11T>C rs886047374
NM_005271.5(GLUD1):c.1403-11dup rs550609501
NM_005271.5(GLUD1):c.1442A>T (p.His481Leu) rs1169592069
NM_005271.5(GLUD1):c.1470G>A (p.Thr490=) rs141844887
NM_005271.5(GLUD1):c.1493C>T (p.Ser498Leu) rs121909731
NM_005271.5(GLUD1):c.1494G>A (p.Ser498=)
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.1498G>A (p.Ala500Thr) rs797045597
NM_005271.5(GLUD1):c.1500A>G (p.Ala500=)
NM_005271.5(GLUD1):c.1501T>C (p.Ser501Pro) rs121909732
NM_005271.5(GLUD1):c.1507A>G (p.Lys503Glu)
NM_005271.5(GLUD1):c.1515C>T (p.Ile505=) rs774771496
NM_005271.5(GLUD1):c.1519C>T (p.His507Tyr) rs121909730
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.342T>C (p.His114=) rs142544510
NM_005271.5(GLUD1):c.376G>A (p.Asp126Asn) rs139579928
NM_005271.5(GLUD1):c.406C>A (p.Arg136=) rs1405119017
NM_005271.5(GLUD1):c.446-7CCA[4] rs753723749
NM_005271.5(GLUD1):c.446-9C>T
NM_005271.5(GLUD1):c.452G>C (p.Arg151Pro)
NM_005271.5(GLUD1):c.456C>T (p.Tyr152=)
NM_005271.5(GLUD1):c.546T>C (p.Ala182=) rs886047378
NM_005271.5(GLUD1):c.585T>C (p.Asp195=) rs756647962
NM_005271.5(GLUD1):c.630A>G (p.Ala210=) rs368203417
NM_005271.5(GLUD1):c.635A>G (p.Lys212Arg)
NM_005271.5(GLUD1):c.646+16_646+17del rs201141455
NM_005271.5(GLUD1):c.647-5C>G rs201611802
NM_005271.5(GLUD1):c.677T>G (p.Met226Arg) rs886047377
NM_005271.5(GLUD1):c.739T>C (p.Tyr247His)
NM_005271.5(GLUD1):c.771T>G (p.Gly257=) rs144831842
NM_005271.5(GLUD1):c.820C>T (p.Arg274Cys) rs56275071
NM_005271.5(GLUD1):c.839T>C (p.Ile280Thr)
NM_005271.5(GLUD1):c.909A>C (p.Thr303=) rs113997422
NM_005271.5(GLUD1):c.919C>T (p.Gln307Ter) rs886047375
NM_005271.5(GLUD1):c.942A>G (p.Leu314=) rs9421572
NM_005271.5(GLUD1):c.953G>A (p.Arg318Lys) rs121909736
NM_005271.5(GLUD1):c.965G>A (p.Arg322His) rs121909737

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