ClinVar Miner

List of variants in gene GBE1 studied for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 296
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HGVS dbSNP
GBE1, 253-BP DEL
NC_000003.11:g.(?_81539548)_(81754774_?)del
NC_000003.11:g.(?_81584336)_(81584486_?)del
NC_000003.11:g.(?_81584336)_(81810678_?)del
NC_000003.11:g.(?_81627056)_(81810688_?)del
NC_000003.11:g.(?_81810516)_(81810678_?)del
NC_000003.12:g.(?_81490387)_(81705633_?)del
NC_000003.12:g.(?_81490387)_(81761537_?)del
NC_000003.12:g.(?_81490397)_(81490473_?)del
NC_000003.12:g.(?_81490397)_(81761527_?)del
NC_000003.12:g.(?_81499090)_(81761537_?)del
NC_000003.12:g.(?_81591027)_(81594033_?)del
NC_000003.12:g.(?_81642771)_(81643000_?)del
NC_000003.12:g.(?_81642771)_(81670963_?)del
NC_000003.12:g.(?_81646382)_(81670963_?)del
NC_000003.12:g.(?_81761375)_(81761517_?)del
NM_000158.3(GBE1):c.-195G>T rs886058904
NM_000158.3(GBE1):c.993-?_1618+?del
NM_000158.4(GBE1):c.*152C>A rs9820089
NM_000158.4(GBE1):c.*176G>A rs846
NM_000158.4(GBE1):c.*226T>C
NM_000158.4(GBE1):c.*308C>T rs141214861
NM_000158.4(GBE1):c.*388T>A
NM_000158.4(GBE1):c.*395A>G rs138608612
NM_000158.4(GBE1):c.*44T>A
NM_000158.4(GBE1):c.*460C>T
NM_000158.4(GBE1):c.*466G>A rs571158601
NM_000158.4(GBE1):c.*468G>A
NM_000158.4(GBE1):c.*494A>C rs145934828
NM_000158.4(GBE1):c.*494A>T
NM_000158.4(GBE1):c.*523T>A
NM_000158.4(GBE1):c.*545G>C
NM_000158.4(GBE1):c.*555G>A rs143820392
NM_000158.4(GBE1):c.*558T>C rs886058899
NM_000158.4(GBE1):c.*598G>C rs886058898
NM_000158.4(GBE1):c.-101C>T rs886058903
NM_000158.4(GBE1):c.-102C>T
NM_000158.4(GBE1):c.-28G>T rs368460254
NM_000158.4(GBE1):c.-57G>A
NM_000158.4(GBE1):c.-6C>G
NM_000158.4(GBE1):c.1000= (p.Ile334=)
NM_000158.4(GBE1):c.1000A>G (p.Ile334Val)
NM_000158.4(GBE1):c.1011C>T (p.Phe337=) rs916259056
NM_000158.4(GBE1):c.1038G>A (p.Leu346=)
NM_000158.4(GBE1):c.105C>T (p.Asp35=)
NM_000158.4(GBE1):c.1070A>G (p.Asp357Gly)
NM_000158.4(GBE1):c.1074T>C (p.Gly358=)
NM_000158.4(GBE1):c.1080G>A (p.Thr360=) rs200645261
NM_000158.4(GBE1):c.108G>A (p.Pro36=) rs775188750
NM_000158.4(GBE1):c.1108+8A>T
NM_000158.4(GBE1):c.1108+8del
NM_000158.4(GBE1):c.1109-6del
NM_000158.4(GBE1):c.1110T>C (p.Gly370=)
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg) rs36099971
NM_000158.4(GBE1):c.1143C>T (p.Phe381=)
NM_000158.4(GBE1):c.114G>A (p.Leu38=)
NM_000158.4(GBE1):c.1167C>T (p.Ala389=)
NM_000158.4(GBE1):c.1173T>G (p.Thr391=)
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr) rs35196441
NM_000158.4(GBE1):c.1200T>C (p.Val400=) rs1464112150
NM_000158.4(GBE1):c.1204A>G (p.Thr402Ala)
NM_000158.4(GBE1):c.1209G>A (p.Leu403=)
NM_000158.4(GBE1):c.1213C>T (p.Pro405Ser)
NM_000158.4(GBE1):c.1215C>T (p.Pro405=)
NM_000158.4(GBE1):c.1216G>A (p.Asp406Asn)
NM_000158.4(GBE1):c.1237-15C>T rs376809475
NM_000158.4(GBE1):c.1239del (p.Asp413fs) rs758504480
NM_000158.4(GBE1):c.1242A>G (p.Val414=)
NM_000158.4(GBE1):c.1245_1258del (p.Gly416fs)
NM_000158.4(GBE1):c.1283G>C (p.Gly428Ala) rs756129254
NM_000158.4(GBE1):c.1284G>A (p.Gly428=)
NM_000158.4(GBE1):c.1286G>C (p.Gly429Ala) rs745594101
NM_000158.4(GBE1):c.12G>A (p.Pro4=)
NM_000158.4(GBE1):c.12G>C (p.Pro4=)
NM_000158.4(GBE1):c.1300C>T (p.Arg434Ter)
NM_000158.4(GBE1):c.1302A>G (p.Arg434=)
NM_000158.4(GBE1):c.1322A>G (p.Asp441Gly)
NM_000158.4(GBE1):c.1335+9C>G rs754084067
NM_000158.4(GBE1):c.1336-1G>A
NM_000158.4(GBE1):c.135C>T (p.Phe45=)
NM_000158.4(GBE1):c.1362C>T (p.Asp454=)
NM_000158.4(GBE1):c.1374C>T (p.Gly458=)
NM_000158.4(GBE1):c.1375G>A (p.Asp459Asn)
NM_000158.4(GBE1):c.1386C>G (p.Tyr462Ter)
NM_000158.4(GBE1):c.1389G>A (p.Thr463=) rs757933285
NM_000158.4(GBE1):c.1392C>T (p.Leu464=) rs563241317
NM_000158.4(GBE1):c.1402C>A (p.Arg468Ser)
NM_000158.4(GBE1):c.1406A>G (p.Tyr469Cys) rs760661724
NM_000158.4(GBE1):c.143+10G>T rs9820490
NM_000158.4(GBE1):c.143+11A>C rs145918282
NM_000158.4(GBE1):c.143+1G>A rs397515343
NM_000158.4(GBE1):c.143+2T>C
NM_000158.4(GBE1):c.143+8C>G rs750447886
NM_000158.4(GBE1):c.143+9G>A rs1267149365
NM_000158.4(GBE1):c.144-7T>C rs886058902
NM_000158.4(GBE1):c.1447-4G>C
NM_000158.4(GBE1):c.1454T>C (p.Val485Ala)
NM_000158.4(GBE1):c.1467G>A (p.Ser489=)
NM_000158.4(GBE1):c.1468del (p.Leu490fs) rs774465102
NM_000158.4(GBE1):c.1470G>A (p.Leu490=)
NM_000158.4(GBE1):c.1471G>A (p.Ala491Thr)
NM_000158.4(GBE1):c.1473A>G (p.Ala491=)
NM_000158.4(GBE1):c.1479G>A (p.Trp493Ter)
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys) rs201758548
NM_000158.4(GBE1):c.1512T>C (p.Ser504=)
NM_000158.4(GBE1):c.1519A>G (p.Thr507Ala) rs2228389
NM_000158.4(GBE1):c.1521T>C (p.Thr507=) rs372821643
NM_000158.4(GBE1):c.1522C>G (p.Pro508Ala)
NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys) rs80338672
NM_000158.4(GBE1):c.1544G>A (p.Arg515His) rs201958741
NM_000158.4(GBE1):c.1561A>T (p.Lys521Ter)
NM_000158.4(GBE1):c.1569T>C (p.Ile523=)
NM_000158.4(GBE1):c.1570C>G (p.Arg524Gly) rs137852888
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter) rs137852888
NM_000158.4(GBE1):c.1571G>A (p.Arg524Gln) rs80338673
NM_000158.4(GBE1):c.1581G>A (p.Thr527=) rs140571802
NM_000158.4(GBE1):c.159C>T (p.Ser53=)
NM_000158.4(GBE1):c.15G>A (p.Met5Ile) rs62267114
NM_000158.4(GBE1):c.1618+1G>A
NM_000158.4(GBE1):c.1618+4A>G
NM_000158.4(GBE1):c.1619-9G>A
NM_000158.4(GBE1):c.1621A>G (p.Asn541Asp)
NM_000158.4(GBE1):c.1634A>G (p.His545Arg) rs137852889
NM_000158.4(GBE1):c.1635T>C (p.His545=) rs780741533
NM_000158.4(GBE1):c.1638T>C (p.Pro546=)
NM_000158.4(GBE1):c.1643G>A (p.Trp548Ter) rs137852894
NM_000158.4(GBE1):c.1647A>C (p.Leu549Phe) rs544404712
NM_000158.4(GBE1):c.1650C>T (p.Asp550=)
NM_000158.4(GBE1):c.1655C>T (p.Pro552Leu) rs777589783
NM_000158.4(GBE1):c.1656A>C (p.Pro552=)
NM_000158.4(GBE1):c.1675_1676dup (p.Ser559fs)
NM_000158.4(GBE1):c.1676G>T (p.Ser559Ile)
NM_000158.4(GBE1):c.1680C>A (p.Tyr560Ter) rs1559637815
NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp) rs552094593
NM_000158.4(GBE1):c.1706del (p.His568_Leu569insTer)
NM_000158.4(GBE1):c.170A>G (p.Lys57Arg) rs544821452
NM_000158.4(GBE1):c.1713C>T (p.Asp571=) rs373148836
NM_000158.4(GBE1):c.1716C>T (p.Asp572=) rs2229520
NM_000158.4(GBE1):c.1719C>T (p.Asp573=)
NM_000158.4(GBE1):c.1722T>C (p.Leu574=) rs367905308
NM_000158.4(GBE1):c.176T>C (p.Ile59Thr) rs28763904
NM_000158.4(GBE1):c.1770G>A (p.Leu590=)
NM_000158.4(GBE1):c.1774G>T (p.Glu592Ter) rs137852890
NM_000158.4(GBE1):c.1781A>G (p.Tyr594Cys) rs370246900
NM_000158.4(GBE1):c.1788G>A (p.Trp596Ter)
NM_000158.4(GBE1):c.1803+1G>A
NM_000158.4(GBE1):c.1803+2T>C rs539203557
NM_000158.4(GBE1):c.1803G>A (p.Gln601=) rs368793136
NM_000158.4(GBE1):c.1804-2A>T
NM_000158.4(GBE1):c.1806C>A (p.Ala602=)
NM_000158.4(GBE1):c.1809C>T (p.Tyr603=)
NM_000158.4(GBE1):c.1810G>A (p.Val604Met)
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys) rs772802187
NM_000158.4(GBE1):c.1842T>A (p.Ile614=)
NM_000158.4(GBE1):c.1860T>C (p.Gly620=)
NM_000158.4(GBE1):c.1861CTT[1] (p.Leu622del) rs1576137368
NM_000158.4(GBE1):c.1874T>G (p.Phe625Cys) rs769567764
NM_000158.4(GBE1):c.1877A>G (p.Asn626Ser) rs185631651
NM_000158.4(GBE1):c.1883A>G (p.His628Arg) rs137852891
NM_000158.4(GBE1):c.1902T>C (p.Thr634=)
NM_000158.4(GBE1):c.1909C>T (p.Arg637Ter) rs766935302
NM_000158.4(GBE1):c.1917A>G (p.Gly639=)
NM_000158.4(GBE1):c.1932G>A (p.Gly644=)
NM_000158.4(GBE1):c.1935-10A>G
NM_000158.4(GBE1):c.1935-7G>T rs1474858058
NM_000158.4(GBE1):c.195T>C (p.Gly65=)
NM_000158.4(GBE1):c.1960G>A (p.Ala654Thr)
NM_000158.4(GBE1):c.1964C>T (p.Ala655Val)
NM_000158.4(GBE1):c.1965G>A (p.Ala655=)
NM_000158.4(GBE1):c.1988T>C (p.Leu663Pro) rs761908536
NM_000158.4(GBE1):c.1989G>A (p.Leu663=)
NM_000158.4(GBE1):c.1995C>T (p.His665=) rs201515305
NM_000158.4(GBE1):c.2001T>A (p.Thr667=)
NM_000158.4(GBE1):c.2004C>T (p.Asp668=)
NM_000158.4(GBE1):c.2016G>A (p.Glu672=) rs571448518
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr) rs193074572
NM_000158.4(GBE1):c.2028T>C (p.His676=)
NM_000158.4(GBE1):c.202_203del (p.Lys68fs)
NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys) rs202158511
NM_000158.4(GBE1):c.203A>T (p.Lys68Met)
NM_000158.4(GBE1):c.2053-3351G>A
NM_000158.4(GBE1):c.2053-3358_2053-3350delinsTGTTTTTTACATGACAGGT rs869320698
NM_000158.4(GBE1):c.2053-4G>C
NM_000158.4(GBE1):c.2058C>T (p.Tyr686=)
NM_000158.4(GBE1):c.2067C>T (p.Ser689=)
NM_000158.4(GBE1):c.2074G>A (p.Ala692Thr) rs192877602
NM_000158.4(GBE1):c.2081T>A (p.Ile694Asn)
NM_000158.4(GBE1):c.2088G>A (p.Gln696=)
NM_000158.4(GBE1):c.2095G>T (p.Asp699Tyr)
NM_000158.4(GBE1):c.2103G>A (p.Pro701=) rs775617188
NM_000158.4(GBE1):c.211A>C (p.Arg71=) rs1576206635
NM_000158.4(GBE1):c.213A>C (p.Arg71Ser)
NM_000158.4(GBE1):c.216del (p.Tyr73fs)
NM_000158.4(GBE1):c.231C>T (p.Gly77=) rs375359843
NM_000158.4(GBE1):c.23C>T (p.Ala8Val)
NM_000158.4(GBE1):c.24G>A (p.Ala8=) rs28763906
NM_000158.4(GBE1):c.259T>C (p.Tyr87His)
NM_000158.4(GBE1):c.270A>G (p.Glu90=)
NM_000158.4(GBE1):c.279G>A (p.Pro93=)
NM_000158.4(GBE1):c.288del (p.Gly97fs) rs1057517315
NM_000158.4(GBE1):c.292G>C (p.Val98Leu) rs762945205
NM_000158.4(GBE1):c.313+15G>A rs184391304
NM_000158.4(GBE1):c.313+8C>G
NM_000158.4(GBE1):c.313+9T>C rs772444966
NM_000158.4(GBE1):c.314-8T>A
NM_000158.4(GBE1):c.333G>A (p.Ser111=) rs374518318
NM_000158.4(GBE1):c.333G>C (p.Ser111=) rs374518318
NM_000158.4(GBE1):c.333G>T (p.Ser111=)
NM_000158.4(GBE1):c.336C>A (p.Tyr112Ter)
NM_000158.4(GBE1):c.33C>G (p.Pro11=) rs773585404
NM_000158.4(GBE1):c.342C>T (p.Tyr114=) rs13320194
NM_000158.4(GBE1):c.346A>G (p.Lys116Glu) rs377305989
NM_000158.4(GBE1):c.350T>C (p.Leu117Pro) rs186942296
NM_000158.4(GBE1):c.351G>T (p.Leu117=) rs749666538
NM_000158.4(GBE1):c.369G>A (p.Glu123=)
NM_000158.4(GBE1):c.405C>T (p.Leu135=) rs139882066
NM_000158.4(GBE1):c.415G>T (p.Gly139Ter) rs1553690406
NM_000158.4(GBE1):c.429+5T>G
NM_000158.4(GBE1):c.432A>G (p.Val144=)
NM_000158.4(GBE1):c.43G>A (p.Glu15Lys)
NM_000158.4(GBE1):c.43G>T (p.Glu15Ter)
NM_000158.4(GBE1):c.450C>T (p.Ser150=)
NM_000158.4(GBE1):c.453A>G (p.Gly151=)
NM_000158.4(GBE1):c.45G>A (p.Glu15=) rs370326965
NM_000158.4(GBE1):c.465T>C (p.Tyr155=)
NM_000158.4(GBE1):c.466C>T (p.Arg156Cys)
NM_000158.4(GBE1):c.477G>A (p.Pro159=)
NM_000158.4(GBE1):c.483A>C (p.Ala161=)
NM_000158.4(GBE1):c.492G>A (p.Val164=)
NM_000158.4(GBE1):c.505del (p.Asp169fs)
NM_000158.4(GBE1):c.552T>C (p.Tyr184=) rs1576185089
NM_000158.4(GBE1):c.555+14del rs573234623
NM_000158.4(GBE1):c.555+1G>T rs759707498
NM_000158.4(GBE1):c.556-4G>A
NM_000158.4(GBE1):c.556-6C>T
NM_000158.4(GBE1):c.556-9A>G
NM_000158.4(GBE1):c.568A>G (p.Arg190Gly) rs2229519
NM_000158.4(GBE1):c.576G>A (p.Lys192=)
NM_000158.4(GBE1):c.579G>A (p.Lys193=) rs17019144
NM_000158.4(GBE1):c.609T>C (p.His203=)
NM_000158.4(GBE1):c.610G>T (p.Val204Leu)
NM_000158.4(GBE1):c.627T>C (p.His209=)
NM_000158.4(GBE1):c.640G>A (p.Ala214Thr) rs201166587
NM_000158.4(GBE1):c.647A>G (p.Tyr216Cys) rs886058901
NM_000158.4(GBE1):c.648T>C (p.Tyr216=) rs1295929595
NM_000158.4(GBE1):c.64C>T (p.Leu22=)
NM_000158.4(GBE1):c.665A>G (p.Asn222Ser)
NM_000158.4(GBE1):c.669A>G (p.Val223=)
NM_000158.4(GBE1):c.671T>C (p.Leu224Pro) rs137852886
NM_000158.4(GBE1):c.691+2T>C rs192044702
NM_000158.4(GBE1):c.691+5G>C rs397515344
NM_000158.4(GBE1):c.692-6A>G
NM_000158.4(GBE1):c.708G>C (p.Gln236His) rs137852892
NM_000158.4(GBE1):c.70del (p.Asp24fs)
NM_000158.4(GBE1):c.718A>G (p.Ile240Val)
NM_000158.4(GBE1):c.721A>G (p.Met241Val) rs747155575
NM_000158.4(GBE1):c.75G>A (p.Val25=)
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala) rs770427750
NM_000158.4(GBE1):c.768C>T (p.Phe256=)
NM_000158.4(GBE1):c.770T>C (p.Phe257Ser) rs1576183537
NM_000158.4(GBE1):c.771T>A (p.Phe257Leu) rs137852887
NM_000158.4(GBE1):c.776C>G (p.Ala259Gly) rs1576183525
NM_000158.4(GBE1):c.783-1G>A rs397515342
NM_000158.4(GBE1):c.783C>G (p.Ser261Arg) rs1559673607
NM_000158.4(GBE1):c.784C>T (p.Arg262Cys) rs137852893
NM_000158.4(GBE1):c.785G>A (p.Arg262His) rs369574719
NM_000158.4(GBE1):c.789T>C (p.Tyr263=)
NM_000158.4(GBE1):c.78C>G (p.Pro26=) rs1575782131
NM_000158.4(GBE1):c.791G>A (p.Gly264Glu)
NM_000158.4(GBE1):c.792A>G (p.Gly264=)
NM_000158.4(GBE1):c.807A>G (p.Leu269=) rs760271506
NM_000158.4(GBE1):c.808C>T (p.Gln270Ter)
NM_000158.4(GBE1):c.822C>T (p.Asp274=)
NM_000158.4(GBE1):c.825A>T (p.Thr275=)
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp) rs28763902
NM_000158.4(GBE1):c.846A>C (p.Ile282=)
NM_000158.4(GBE1):c.84G>A (p.Leu28=)
NM_000158.4(GBE1):c.859G>C (p.Val287Leu) rs116899644
NM_000158.4(GBE1):c.905T>C (p.Met302Thr) rs1189654498
NM_000158.4(GBE1):c.906G>A (p.Met302Ile)
NM_000158.4(GBE1):c.909_912del (p.Phe303fs)
NM_000158.4(GBE1):c.91C>T (p.Leu31Phe)
NM_000158.4(GBE1):c.924C>T (p.Ser308=) rs765783805
NM_000158.4(GBE1):c.942A>G (p.Gly314=)
NM_000158.4(GBE1):c.956A>G (p.His319Arg)
NM_000158.4(GBE1):c.969T>C (p.Asp323=) rs555689284
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser) rs80338671
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671
NM_000158.4(GBE1):c.987C>T (p.Tyr329=) rs573055138
NM_000158.4(GBE1):c.990C>T (p.Ser330=) rs371194644
NM_000158.4(GBE1):c.992+2T>G
NM_000158.4(GBE1):c.992+8C>T
NM_000158.4(GBE1):c.993-1G>T rs763016962
NM_000158.4(GBE1):c.993-9A>T
NM_000158.4(GBE1):c.998A>G (p.Glu333Gly)
NM_000158.4(GBE1):c.998A>T (p.Glu333Val) rs1553684545

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