ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Pars Genome Lab

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 86
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000925.4(PDHB):c.435A>G (p.Arg145=) rs4264746 0.98352
NM_000158.4(GBE1):c.1000A>G (p.Ile334Val) rs2172397 0.97909
NM_000404.4(GLB1):c.1561T>C (p.Cys521Arg) rs4302331 0.93112
NM_000352.6(ABCC8):c.2390+219T>C rs4148632 0.89524
NM_000352.6(ABCC8):c.2256-50T>C rs4148626 0.89459
NM_000404.4(GLB1):c.34T>C (p.Leu12=) rs7614776 0.88431
NM_000289.6(PFKM):c.1880+27A>G rs4075913 0.78311
NM_000404.4(GLB1):c.955+60A>G rs12632196 0.75289
NM_000925.4(PDHB):c.701-64G>T rs2070662 0.72970
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser) rs757110 0.71935
NM_000352.6(ABCC8):c.4608+54G>C rs4148646 0.71546
NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile) rs5215 0.71351
NM_000352.6(ABCC8):c.2390+123C>T rs4148631 0.70926
NM_000352.6(ABCC8):c.2390+93C>T rs4148630 0.70902
NM_002076.4(GNS):c.198G>A (p.Pro66=) rs1147096 0.70681
NM_002076.4(GNS):c.793-68G>C rs1690277 0.68800
NM_000352.6(ABCC8):c.2820+17A>G rs2106865 0.62022
NM_000404.4(GLB1):c.29C>T (p.Pro10Leu) rs7637099 0.48281
NM_000352.6(ABCC8):c.207T>C (p.Pro69=) rs1048099 0.47531
NM_000352.6(ABCC8):c.579+14C>T rs2301703 0.46493
NM_000352.6(ABCC8):c.4120-27T>C rs739689 0.45032
NM_000352.6(ABCC8):c.1686C>T (p.His562=) rs1799857 0.44260
NM_000352.6(ABCC8):c.3819G>A (p.Arg1273=) rs1799859 0.39734
NM_000158.4(GBE1):c.-57G>A rs2290081 0.38912
NM_000352.6(ABCC8):c.2117-3C>T rs1799854 0.36733
NM_000352.6(ABCC8):c.4609-40A>G rs1109591 0.36421
NM_000046.5(ARSB):c.1143-27A>C rs25415 0.35324
NM_000046.5(ARSB):c.1072G>A (p.Val358Met) rs1065757 0.34419
NM_000046.5(ARSB):c.313-26T>C rs3733895 0.30072
NM_000925.4(PDHB):c.267+42G>A rs62259772 0.30062
NM_000925.4(PDHB):c.438G>A (p.Gly146=) rs1126551 0.30058
NM_000289.6(PFKM):c.428-39G>A rs2269933 0.29774
NM_000158.4(GBE1):c.568A>G (p.Arg190Gly) rs2229519 0.29724
NM_138413.4(HOGA1):c.912C>A (p.Ala304=) rs12261752 0.29673
NM_000289.6(PFKM):c.2334T>G (p.Ala778=) rs8716 0.28514
NM_000046.5(ARSB):c.1191G>A (p.Pro397=) rs25413 0.27041
NM_000925.4(PDHB):c.793-41G>A rs62259769 0.22293
NM_001166686.2(PFKM):c.5A>T (p.His2Leu) rs11609399 0.21767
NM_000352.6(ABCC8):c.4119+93G>T rs4148644 0.21307
NM_000404.4(GLB1):c.1233+8T>C rs13093698 0.21250
NM_000289.6(PFKM):c.639-85T>C rs2286020 0.19143
NM_000289.6(PFKM):c.516C>T (p.Thr172=) rs1049392 0.18973
NM_000203.5(IDUA):c.1081G>A (p.Ala361Thr) rs6831280 0.16782
NM_000289.6(PFKM):c.2093-14A>G rs11168427 0.16418
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln) rs2228500 0.16379
NM_000289.6(PFKM):c.-8-86G>T rs2269935 0.16268
NM_000352.6(ABCC8):c.1947G>A (p.Lys649=) rs1799858 0.16150
NM_000352.6(ABCC8):c.2485C>T (p.Leu829=) rs1805036 0.14682
NM_000046.5(ARSB):c.691-22T>C rs6870443 0.13972
NM_000925.4(PDHB):c.935-146G>C rs6445980 0.13601
NM_000158.4(GBE1):c.-102C>T rs78982329 0.12619
NM_000158.4(GBE1):c.143+10G>T rs9820490 0.12510
NM_000046.5(ARSB):c.1126G>A (p.Val376Met) rs1071598 0.12316
NM_000404.4(GLB1):c.76-4426C>T rs9865342 0.11155
NM_000404.4(GLB1):c.458-11T>C rs34204221 0.10591
NM_002076.4(GNS):c.363G>A (p.Lys121=) rs2230291 0.09139
NM_000404.4(GLB1):c.734-112T>C rs80059915 0.07289
NM_000925.4(PDHB):c.701-41G>A rs4585221 0.06991
NM_000289.6(PFKM):c.427+52G>A rs41291961 0.06210
NM_000289.6(PFKM):c.1880+32G>C rs4075914 0.06152
NM_000404.4(GLB1):c.734-80G>A rs75639377 0.05351
NM_000404.4(GLB1):c.1594A>G (p.Ser532Gly) rs73826339 0.05158
NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile) rs8192690 0.05059
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) rs1800467 0.03859
NM_000289.6(PFKM):c.237+73G>T rs78042191 0.01997
NM_000289.6(PFKM):c.1342-14G>T rs56117548 0.01990
NM_000289.6(PFKM):c.306C>T (p.Ala102=) rs11552507 0.01954
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=) rs5216 0.01521
NM_000404.4(GLB1):c.1824G>C (p.Leu608=) rs77226678 0.01441
NM_000352.6(ABCC8):c.4120-19C>T rs1800853 0.01325
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361 0.01187
NM_000525.4(KCNJ11):c.1154C>G (p.Ser385Cys) rs41282930 0.00987
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val) rs139570786 0.00232
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669 0.00072
NM_000158.4(GBE1):c.45G>A (p.Glu15=) rs370326965 0.00014
NM_001352514.2(HLCS):c.951C>T (p.Ser317=) rs185480832 0.00011
NM_000152.5(GAA):c.318C>T (p.Arg106=) rs762542246 0.00006
NM_000152.5(GAA):c.2092G>A (p.Ala698Thr) rs367632754 0.00005
NM_000151.4(G6PC1):c.592_593del (p.Ile198fs) rs2151932243
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000162.5(GCK):c.1A>T (p.Met1Leu)
NM_000289.6(PFKM):c.638+161C>T rs2286021
NM_000404.4(GLB1):c.1233+91G>C rs2125474421
NM_000404.4(GLB1):c.733+78A>G rs77452319
NM_000404.4(GLB1):c.734-99G>T rs72856120
NM_000404.4(GLB1):c.792+10G>T rs79518579

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.