ClinVar Miner

List of variants in gene G6PC studied for abdominal and pelvic region disorder

Included ClinVar conditions (913):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 126
Download table as spreadsheet
HGVS dbSNP
NM_000151.4(G6PC):c.*1012C>T rs75063448
NM_000151.4(G6PC):c.*1039G>T rs549474805
NM_000151.4(G6PC):c.*119C>T rs886052957
NM_000151.4(G6PC):c.*120G>A rs150477898
NM_000151.4(G6PC):c.*1210C>G rs144568330
NM_000151.4(G6PC):c.*1227dup rs397735497
NM_000151.4(G6PC):c.*1294C>A rs161620
NM_000151.4(G6PC):c.*1304G>A rs549833149
NM_000151.4(G6PC):c.*1313A>G rs886052962
NM_000151.4(G6PC):c.*1324C>T rs548787621
NM_000151.4(G6PC):c.*1454C>T rs148453821
NM_000151.4(G6PC):c.*1513C>T rs374021788
NM_000151.4(G6PC):c.*1545_*1552TTTTAGAA[1] rs397717945
NM_000151.4(G6PC):c.*1552A>T rs138968865
NM_000151.4(G6PC):c.*1652C>T rs765883953
NM_000151.4(G6PC):c.*1970A>G rs192778595
NM_000151.4(G6PC):c.*1981C>T rs573802724
NM_000151.4(G6PC):c.*1986T>C rs542411157
NM_000151.4(G6PC):c.*2088A>T rs9902963
NM_000151.4(G6PC):c.*2095T>A rs692180
NM_000151.4(G6PC):c.*211T>C rs886052958
NM_000151.4(G6PC):c.*2133C>T rs183542930
NM_000151.4(G6PC):c.*2134G>A rs886052963
NM_000151.4(G6PC):c.*2311C>T rs372226654
NM_000151.4(G6PC):c.*23T>C rs2229611
NM_000151.4(G6PC):c.*24A>C rs377739870
NM_000151.4(G6PC):c.*2501C>G rs886052964
NM_000151.4(G6PC):c.*2519G>T rs886052965
NM_000151.4(G6PC):c.*2532G>A rs76156285
NM_000151.4(G6PC):c.*2611C>T rs186556135
NM_000151.4(G6PC):c.*2687del rs113390675
NM_000151.4(G6PC):c.*2800G>A rs886052967
NM_000151.4(G6PC):c.*2847T>C rs139115520
NM_000151.4(G6PC):c.*286A>G rs886052959
NM_000151.4(G6PC):c.*2981G>T rs886052968
NM_000151.4(G6PC):c.*3G>A rs191399793
NM_000151.4(G6PC):c.*492A>C rs532485841
NM_000151.4(G6PC):c.*556C>T rs533491939
NM_000151.4(G6PC):c.*607G>A rs886052960
NM_000151.4(G6PC):c.*703G>A rs375295552
NM_000151.4(G6PC):c.*714A>G rs886052961
NM_000151.4(G6PC):c.*727T>C rs80193931
NM_000151.4(G6PC):c.*745G>T rs116897758
NM_000151.4(G6PC):c.*877T>C rs72826982
NM_000151.4(G6PC):c.*986A>T rs370935410
NM_000151.4(G6PC):c.-45G>A rs367816430
NM_000151.4(G6PC):c.1012G>T (p.Val338Phe) rs367727229
NM_000151.4(G6PC):c.1018_1027delinsA (p.Val340_Tyr343delinsAsn) rs1555560204
NM_000151.4(G6PC):c.1022T>A (p.Ile341Asn) rs387906505
NM_000151.4(G6PC):c.1039C>T (p.Gln347Ter) rs80356487
NM_000151.4(G6PC):c.1067C>A (p.Ser356Ter) rs1555560217
NM_000151.4(G6PC):c.113A>T (p.Asp38Val) rs104894565
NM_000151.4(G6PC):c.136del (p.Leu46fs) rs1057517227
NM_000151.4(G6PC):c.14T>G (p.Met5Arg) rs1250172816
NM_000151.4(G6PC):c.150_151del (p.Trp50fs) rs1057516674
NM_000151.4(G6PC):c.161A>C (p.Gln54Pro) rs1057517008
NM_000151.4(G6PC):c.189G>A (p.Trp63Ter) rs764920787
NM_000151.4(G6PC):c.193G>C (p.Ala65Pro)
NM_000151.4(G6PC):c.229T>C (p.Trp77Arg) rs104894566
NM_000151.4(G6PC):c.230+1G>C rs863224023
NM_000151.4(G6PC):c.230+4A>G rs587776757
NM_000151.4(G6PC):c.231-1G>A rs1555559279
NM_000151.4(G6PC):c.247C>T (p.Arg83Cys) rs1801175
NM_000151.4(G6PC):c.248G>A (p.Arg83His) rs1801176
NM_000151.4(G6PC):c.255C>A (p.Tyr85Ter) rs748363083
NM_000151.4(G6PC):c.262del (p.Val88fs)
NM_000151.4(G6PC):c.323C>T (p.Thr108Ile)
NM_000151.4(G6PC):c.326G>A (p.Cys109Tyr) rs886052955
NM_000151.4(G6PC):c.328G>A (p.Glu110Lys) rs104894567
NM_000151.4(G6PC):c.340+10C>A rs368450665
NM_000151.4(G6PC):c.340+20C>T rs183285298
NM_000151.4(G6PC):c.341G>A (p.Gly114Glu) rs544563908
NM_000151.4(G6PC):c.361A>G (p.Met121Val) rs1555559733
NM_000151.4(G6PC):c.370G>A (p.Ala124Thr) rs104894568
NM_000151.4(G6PC):c.377_378TA[3] (p.Tyr128fs) rs80356488
NM_000151.4(G6PC):c.381C>A (p.Tyr127Ter) rs1555559741
NM_000151.4(G6PC):c.388_400del (p.Met130fs) rs1567705064
NM_000151.4(G6PC):c.432G>A (p.Pro144=) rs161628
NM_000151.4(G6PC):c.446+1G>C
NM_000151.4(G6PC):c.446+2T>C
NM_000151.4(G6PC):c.447-1G>A rs1411037881
NM_000151.4(G6PC):c.447G>A (p.Arg149=) rs549712764
NM_000151.4(G6PC):c.467G>T (p.Trp156Leu) rs1189630738
NM_000151.4(G6PC):c.47C>G (p.Thr16Arg) rs1555558914
NM_000151.4(G6PC):c.497T>C (p.Val166Ala) rs104894571
NM_000151.4(G6PC):c.497T>G (p.Val166Gly) rs104894571
NM_000151.4(G6PC):c.499dup (p.Cys167fs) rs1057516630
NM_000151.4(G6PC):c.508C>T (p.Arg170Ter) rs373345919
NM_000151.4(G6PC):c.516C>A (p.Tyr172Ter) rs1555559991
NM_000151.4(G6PC):c.518T>C (p.Leu173Pro)
NM_000151.4(G6PC):c.52_67dup (p.Tyr23fs) rs1555558920
NM_000151.4(G6PC):c.551G>A (p.Gly184Glu) rs104894569
NM_000151.4(G6PC):c.551G>T (p.Gly184Val) rs104894569
NM_000151.4(G6PC):c.558G>T (p.Leu186=) rs141376085
NM_000151.4(G6PC):c.560C>G (p.Ser187Ter) rs1485038937
NM_000151.4(G6PC):c.562G>A (p.Gly188Ser) rs80356482
NM_000151.4(G6PC):c.562G>C (p.Gly188Arg) rs80356482
NM_000151.4(G6PC):c.577G>C (p.Glu193Gln) rs886052956
NM_000151.4(G6PC):c.606T>C (p.Tyr202=) rs1555560103
NM_000151.4(G6PC):c.634A>T (p.Ile212Phe) rs756944737
NM_000151.4(G6PC):c.638C>T (p.Thr213Ile) rs201649392
NM_000151.4(G6PC):c.646C>T (p.Leu216=) rs749665480
NM_000151.4(G6PC):c.648G>T (p.Leu216=) rs80356484
NM_000151.4(G6PC):c.674T>C (p.Leu225Pro) rs1555560128
NM_000151.4(G6PC):c.707G>A (p.Trp236Ter) rs1457925404
NM_000151.4(G6PC):c.724C>T (p.Gln242Ter) rs80356485
NM_000151.4(G6PC):c.731G>A (p.Trp244Ter) rs1555560140
NM_000151.4(G6PC):c.781_783CTC[1] (p.Leu262del) rs1305819623
NM_000151.4(G6PC):c.792C>A (p.Asn264Lys) rs1555560149
NM_000151.4(G6PC):c.798del (p.Thr267fs) rs749323139
NM_000151.4(G6PC):c.79C>T (p.Gln27Ter) rs1057516367
NM_000151.4(G6PC):c.79del (p.Gln27fs) rs80356479
NM_000151.4(G6PC):c.809G>T (p.Gly270Val) rs80356483
NM_000151.4(G6PC):c.81G>C (p.Gln27His) rs371611000
NM_000151.4(G6PC):c.858del (p.Lys287fs) rs1057516858
NM_000151.4(G6PC):c.883C>T (p.Arg295Cys) rs104894563
NM_000151.4(G6PC):c.922G>A (p.Val308Ile) rs774448424
NM_000151.4(G6PC):c.943C>G (p.Pro315Ala) rs143321486
NM_000151.4(G6PC):c.952_953insGT (p.Val318fs) rs1555560185
NM_000151.4(G6PC):c.964T>G (p.Phe322Val) rs1567706564
NM_000151.4(G6PC):c.965T>A (p.Phe322Tyr) rs863224022
NM_000151.4(G6PC):c.969C>A (p.Tyr323Ter) rs780226142
NM_000151.4(G6PC):c.980_982del (p.Phe327del) rs80356486
NM_000151.4(G6PC):c.993G>A (p.Ala331=) rs369238258
NM_000151.4(G6PC):c.993G>C (p.Ala331=) rs369238258
NM_001270397.2(G6PC):c.*57G>A rs515726229

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.