ClinVar Miner

List of variants in gene GLUD1 reported as uncertain significance for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_005271.5(GLUD1):c.*1501G>C rs768450394 0.00068
NM_005271.5(GLUD1):c.*1419T>G rs895697576 0.00024
NM_005271.5(GLUD1):c.*970A>G rs760207211 0.00022
NM_005271.5(GLUD1):c.1402+10G>A rs202067232 0.00016
NM_005271.5(GLUD1):c.1403-11T>C rs886047374 0.00015
NM_005271.5(GLUD1):c.*998C>T rs766730554 0.00008
NM_005271.5(GLUD1):c.1279-6G>A rs374548261 0.00006
NM_005271.5(GLUD1):c.1500A>G (p.Ala500=) rs756259685 0.00006
NM_005271.5(GLUD1):c.1652A>G (p.Asn551Ser) rs373705613 0.00006
NM_005271.5(GLUD1):c.*1270C>T rs886047370 0.00003
NM_005271.5(GLUD1):c.*1464C>T rs886047368 0.00003
NM_005271.5(GLUD1):c.*1548C>T rs886047366 0.00003
NM_005271.5(GLUD1):c.1568G>A (p.Arg523His) rs761933718 0.00003
NM_005271.5(GLUD1):c.1100A>G (p.Tyr367Cys) rs766896575 0.00002
NM_005271.5(GLUD1):c.1494G>A (p.Ser498=) rs759865842 0.00002
NM_005271.5(GLUD1):c.330G>A (p.Lys110=) rs199752396 0.00002
NM_005271.5(GLUD1):c.*1181C>A rs542298445 0.00001
NM_005271.5(GLUD1):c.*1436G>A rs886047369 0.00001
NM_005271.5(GLUD1):c.*469C>A rs566474794 0.00001
NM_005271.5(GLUD1):c.*496G>A rs886047372 0.00001
NM_005271.5(GLUD1):c.1181C>T (p.Pro394Leu) rs777564388 0.00001
NM_005271.5(GLUD1):c.1515C>T (p.Ile505=) rs774771496 0.00001
NM_005271.5(GLUD1):c.646+3A>G rs1846331910 0.00001
NC_000010.10:g.(?_88811508)_(88822612_?)dup
NC_000010.10:g.(?_88854062)_(88854526_?)del
NM_005271.5(GLUD1):c.*1139T>C rs1845608491
NM_005271.5(GLUD1):c.*1211T>C rs1845605578
NM_005271.5(GLUD1):c.*1252T>C rs886047371
NM_005271.5(GLUD1):c.*1515A>G rs1845594094
NM_005271.5(GLUD1):c.*1545C>T rs886047367
NM_005271.5(GLUD1):c.*205A>G rs886047373
NM_005271.5(GLUD1):c.*64T>C rs760101776
NM_005271.5(GLUD1):c.*64T>G rs760101776
NM_005271.5(GLUD1):c.*868A>C rs1430742705
NM_005271.5(GLUD1):c.1006A>G (p.Ser336Gly)
NM_005271.5(GLUD1):c.1063C>T (p.His355Tyr)
NM_005271.5(GLUD1):c.1070C>T (p.Ser357Phe)
NM_005271.5(GLUD1):c.1078_1079insAGTCCATTCTGG (p.Leu359_Gly360insGluSerIleLeu) rs1845910499
NM_005271.5(GLUD1):c.1111A>G (p.Ile371Val) rs2133795523
NM_005271.5(GLUD1):c.1132A>G (p.Ile378Val) rs1589358775
NM_005271.5(GLUD1):c.1175A>G (p.Asn392Ser)
NM_005271.5(GLUD1):c.1197+5C>A
NM_005271.5(GLUD1):c.1198-11CT[2] rs753448342
NM_005271.5(GLUD1):c.1225A>G (p.Thr409Ala)
NM_005271.5(GLUD1):c.1249T>A (p.Phe417Ile) rs2133794123
NM_005271.5(GLUD1):c.1279-3T>C rs1845868081
NM_005271.5(GLUD1):c.1358G>A (p.Arg453His)
NM_005271.5(GLUD1):c.1379G>C (p.Arg460Thr) rs2133792215
NM_005271.5(GLUD1):c.1402A>C (p.Met468Leu) rs2133792192
NM_005271.5(GLUD1):c.1442A>T (p.His481Leu) rs1169592069
NM_005271.5(GLUD1):c.1466C>G (p.Pro489Arg)
NM_005271.5(GLUD1):c.1466C>T (p.Pro489Leu) rs2133788907
NM_005271.5(GLUD1):c.1479C>A (p.Phe493Leu) rs2133788865
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.1557+12G>A rs201872390
NM_005271.5(GLUD1):c.1558-5T>A
NM_005271.5(GLUD1):c.1637T>C (p.Val546Ala) rs2133773089
NM_005271.5(GLUD1):c.307C>G (p.Arg103Gly)
NM_005271.5(GLUD1):c.446-5634T>C rs1841280208
NM_005271.5(GLUD1):c.446-7CCA[4] rs753723749
NM_005271.5(GLUD1):c.452G>C (p.Arg151Pro) rs777627931
NM_005271.5(GLUD1):c.546T>C (p.Ala182=) rs886047378
NM_005271.5(GLUD1):c.615C>G (p.Phe205Leu)
NM_005271.5(GLUD1):c.655A>G (p.Ile219Val)
NM_005271.5(GLUD1):c.677T>G (p.Met226Arg) rs886047377
NM_005271.5(GLUD1):c.719A>G (p.Tyr240Cys)
NM_005271.5(GLUD1):c.757G>A (p.Ala253Thr)
NM_005271.5(GLUD1):c.803G>A (p.Arg268His)
NM_005271.5(GLUD1):c.839T>C (p.Ile280Thr) rs1845968579
NM_005271.5(GLUD1):c.919C>T (p.Gln307Ter) rs886047375
NM_005271.5(GLUD1):c.953G>A (p.Arg318Lys) rs121909736
NM_005271.5(GLUD1):c.953G>C (p.Arg318Thr) rs121909736
NM_005271.5(GLUD1):c.955T>A (p.Tyr319Asn)
NM_005271.5(GLUD1):c.962A>G (p.His321Arg)

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