ClinVar Miner

List of variants reported as likely benign for disorder of glycolysis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (70):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 204
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HGVS dbSNP gnomAD frequency
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) rs5219 0.72048
NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile) rs5215 0.71351
NM_000525.4(KCNJ11):c.*215C>T rs5210 0.44390
NM_000525.4(KCNJ11):c.570C>T (p.Ala190=) rs5218 0.22765
NM_175914.5(HNF4A):c.50-5C>T rs745975 0.17964
NM_000207.3(INS):c.*9C>T rs3842752 0.16663
NM_003597.5(KLF11):c.185A>G (p.Gln62Arg) rs35927125 0.08880
NM_001366110.1(PAX4):c.*402T>C rs327519 0.07655
NM_000207.3(INS):c.-18+4_-18+5insTTGC rs3842740 0.07357
NM_000289.5(PFKM):c.-171C>A rs41291959 0.06201
NM_001366110.1(PAX4):c.543A>G (p.Gln181=) rs327517 0.05634
NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile) rs8192690 0.05059
NM_001366110.1(PAX4):c.474C>T (p.Gly158=) rs77039439 0.04703
NC_000012.12:g.6867521G>A rs1800201 0.03488
NM_001366110.1(PAX4):c.*492G>A rs405576 0.03297
NM_000352.6(ABCC8):c.2277C>T (p.Thr759=) rs1801261 0.02724
NM_001366110.1(PAX4):c.421C>T (p.Arg141Trp) rs2233578 0.02654
NM_000360.4(TH):c.1401C>T (p.Asp467=) rs3842724 0.02616
NM_175914.5(HNF4A):c.350C>T (p.Thr117Ile) rs1800961 0.02469
NM_000207.3(INS):c.36G>A (p.Ala12=) rs3842744 0.01335
NM_003597.5(KLF11):c.659C>T (p.Thr220Met) rs34336420 0.01310
NM_000352.6(ABCC8):c.3329+6C>T rs113873225 0.01304
NM_000360.4(TH):c.1278G>A (p.Thr426=) rs36097848 0.01234
NM_000352.6(ABCC8):c.4728C>T (p.Phe1576=) rs73419228 0.01181
NM_001366110.1(PAX4):c.*33A>C rs150578361 0.01119
NM_005566.4(LDHA):c.*582C>T rs144317385 0.01099
NM_175914.5(HNF4A):c.*167T>A rs11574744 0.01097
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971 0.01088
NM_001243177.4(ALDOA):c.1200C>T (p.Ser400=) rs77290575 0.01088
NM_000360.4(TH):c.1200+9C>T rs11564717 0.01045
NM_001715.2(BLK):c.-448T>C rs148891021 0.00986
NM_001715.3(BLK):c.177C>G (p.Asp59Glu) rs146083915 0.00891
NM_000207.3(INS):c.-9C>T rs5505 0.00878
NM_000162.5(GCK):c.645C>T (p.Tyr215=) rs144723656 0.00682
NM_001715.2(BLK):c.-530G>A rs115316286 0.00661
NM_000290.4(PGAM2):c.366G>A (p.Pro122=) rs143830182 0.00529
NM_000458.3(HNF1B):c.-178G>A rs148442901 0.00528
NM_000525.4(KCNJ11):c.108G>A (p.Val36=) rs112070496 0.00509
NM_001366110.1(PAX4):c.646-7C>T rs11977988 0.00498
NM_000162.5(GCK):c.339C>T (p.Asp113=) rs149412035 0.00451
NM_002500.5(NEUROD1):c.-60G>A rs189844846 0.00441
NM_000352.6(ABCC8):c.354C>T (p.Val118=) rs137873871 0.00434
NM_000352.4(ABCC8):c.-72G>A rs541244107 0.00426
NM_001366110.1(PAX4):c.*190C>T rs2233585 0.00426
NM_002500.5(NEUROD1):c.*719G>A rs184299700 0.00423
NM_000360.4(TH):c.*277G>A rs3842725 0.00418
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile) rs8177988 0.00414
NM_001715.2(BLK):c.-441C>A rs142686759 0.00409
NM_001366110.1(PAX4):c.*287C>T rs12669223 0.00402
NM_000162.5(GCK):c.618G>A (p.Thr206=) rs142817246 0.00400
NM_000162.5(GCK):c.*92C>A rs557990162 0.00389
NM_175914.5(HNF4A):c.1137C>T (p.Asn379=) rs61737145 0.00384
NM_000290.4(PGAM2):c.375G>A (p.Pro125=) rs145985559 0.00382
NM_000525.4(KCNJ11):c.-498T>C rs529946415 0.00352
NM_002500.5(NEUROD1):c.*78C>T rs41270211 0.00315
NM_001715.2(BLK):c.-304C>G rs151046937 0.00312
NM_000162.5(GCK):c.46-12C>T rs142829768 0.00296
NM_000298.6(PKLR):c.181C>T (p.Leu61=) rs8177962 0.00289
NM_000352.6(ABCC8):c.1926C>G (p.Pro642=) rs75376282 0.00284
NM_000352.6(ABCC8):c.-8G>T rs200091822 0.00270
NM_000207.3(INS):c.188-10G>A rs41275198 0.00262
NM_000162.5(GCK):c.209-8G>A rs144798843 0.00249
NM_000162.5(GCK):c.*356G>A rs146107173 0.00247
NM_000289.6(PFKM):c.1338G>A (p.Gly446=) rs150378513 0.00243
NM_000289.6(PFKM):c.1339C>A (p.Gln447Lys) rs145040928 0.00243
NM_000365.6(TPI1):c.*549A>G rs114310136 0.00243
NM_000545.8(HNF1A):c.*908G>A rs140584786 0.00236
NM_000162.5(GCK):c.333C>T (p.Pro111=) rs61736250 0.00235
NM_175914.5(HNF4A):c.*1078G>A rs573432571 0.00233
NM_000458.4(HNF1B):c.444G>A (p.Ser148=) rs147218489 0.00228
NM_001366110.1(PAX4):c.599G>A (p.Arg200His) rs2233580 0.00220
NM_001366110.1(PAX4):c.456C>T (p.Val152=) rs61749955 0.00216
NM_000289.6(PFKM):c.2199-12A>G rs202008060 0.00204
NM_001366110.1(PAX4):c.14-188del rs533462973 0.00204
NM_003597.5(KLF11):c.86G>A (p.Arg29Gln) rs150096859 0.00188
NM_000289.6(PFKM):c.702A>T (p.Pro234=) rs138022863 0.00185
NM_001715.3(BLK):c.711C>T (p.Pro237=) rs143699141 0.00174
NM_053013.4(ENO3):c.86-10C>T rs201571802 0.00174
NM_000352.6(ABCC8):c.1332+4del rs587783164 0.00128
NM_000162.5(GCK):c.208+11G>A rs77440690 0.00124
NM_000352.6(ABCC8):c.3975C>T (p.Tyr1325=) rs138141427 0.00121
NM_000525.4(KCNJ11):c.1089A>G (p.Ser363=) rs5214 0.00120
NM_000352.6(ABCC8):c.1920G>A (p.Ala640=) rs146156937 0.00103
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met) rs139524121 0.00102
NM_002500.4(NEUROD1):c.*1555C>T rs192155087 0.00099
NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val) rs117874766 0.00097
NM_000162.5(GCK):c.*847G>A rs76374134 0.00096
NM_003597.5(KLF11):c.486A>G (p.Pro162=) rs146462049 0.00093
NM_003597.5(KLF11):c.1205G>A (p.Arg402Gln) rs34762805 0.00088
NM_175914.5(HNF4A):c.84G>A (p.Ala28=) rs41282026 0.00084
NM_000365.6(TPI1):c.-31C>T rs200692430 0.00076
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) rs137853247 0.00076
NM_000162.5(GCK):c.-215A>G rs13306390 0.00065
NM_000352.5(ABCC8):c.*118A>G rs142441893 0.00061
NM_001715.3(BLK):c.1075C>T (p.Arg359Cys) rs146505280 0.00059
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257 0.00057
NM_001715.3(BLK):c.223C>G (p.Arg75Gly) rs149393791 0.00057
NM_001715.3(BLK):c.1302G>A (p.Val434=) rs145686279 0.00054
NM_001366110.1(PAX4):c.116G>A (p.Arg39Gln) rs115887120 0.00051
NM_000162.5(GCK):c.*510C>T rs141645300 0.00050
NM_003597.5(KLF11):c.953T>G (p.Leu318Arg) rs144431930 0.00048
NM_000162.5(GCK):c.*11C>T rs200698755 0.00046
NM_175914.5(HNF4A):c.138G>A (p.Thr46=) rs145845882 0.00043
NM_000298.6(PKLR):c.1686C>T (p.Ser562=) rs140859641 0.00040
NM_003597.5(KLF11):c.1503G>A (p.Pro501=) rs36091043 0.00040
NM_000162.5(GCK):c.*735C>A rs556996030 0.00038
NM_000545.8(HNF1A):c.1539C>T (p.Thr513=) rs193922584 0.00037
NM_000545.8(HNF1A):c.336G>A (p.Pro112=) rs371365341 0.00036
NM_002500.5(NEUROD1):c.777C>T (p.Ser259=) rs115027760 0.00033
NM_175914.5(HNF4A):c.1176C>T (p.Asn392=) rs141448616 0.00033
NM_002500.5(NEUROD1):c.738G>A (p.Pro246=) rs115207271 0.00029
NM_175914.5(HNF4A):c.*764C>T rs537782818 0.00029
NM_000525.4(KCNJ11):c.-154G>T rs539975714 0.00026
NM_175914.5(HNF4A):c.*1395C>T rs568456380 0.00026
NM_175914.5(HNF4A):c.439G>A (p.Val147Ile) rs142204928 0.00025
NM_001715.3(BLK):c.368+13G>A rs199644751 0.00024
NM_001715.3(BLK):c.980A>T (p.Asp327Val) rs138333004 0.00024
NM_000290.4(PGAM2):c.707A>C (p.Glu236Ala) rs140230479 0.00022
NM_005566.4(LDHA):c.777G>A (p.Leu259=) rs137996815 0.00021
NM_000545.8(HNF1A):c.1377G>A (p.Leu459=) rs118028009 0.00020
NM_000352.6(ABCC8):c.1678G>A (p.Val560Met) rs4148619 0.00019
NM_003597.5(KLF11):c.546C>A (p.Ser182Arg) rs142266428 0.00019
NM_000365.6(TPI1):c.*178G>A rs144171030 0.00018
NM_003597.5(KLF11):c.*982G>A rs550807244 0.00017
NM_001715.3(BLK):c.93A>G (p.Gln31=) rs369109733 0.00016
NM_175914.5(HNF4A):c.582+12C>T rs372596032 0.00016
NC_000017.11:g.37745116G>A rs142612536 0.00015
NM_000458.4(HNF1B):c.73G>T (p.Val25Leu) rs139107479 0.00015
NM_000162.5(GCK):c.213C>T (p.Val71=) rs143128547 0.00014
NM_175914.5(HNF4A):c.*1364G>A rs187923731 0.00014
NM_001366110.1(PAX4):c.571C>T (p.Arg191Cys) rs114315130 0.00013
NM_003597.5(KLF11):c.*2274G>A rs149368043 0.00012
NM_000545.8(HNF1A):c.*267T>C rs571084139 0.00011
NM_001715.3(BLK):c.18C>T (p.Ser6=) rs113656715 0.00010
NM_000458.4(HNF1B):c.1578C>G (p.Ser526=) rs751225159 0.00009
NM_175914.5(HNF4A):c.*977C>G rs367907885 0.00009
NM_000365.6(TPI1):c.*519T>C rs377186570 0.00008
NM_003597.5(KLF11):c.1161C>T (p.Asp387=) rs117449189 0.00008
NM_000162.5(GCK):c.363+10G>A rs758495950 0.00006
NM_000352.6(ABCC8):c.1958G>A (p.Arg653Gln) rs146378237 0.00006
NM_000352.6(ABCC8):c.2422C>A (p.Gln808Lys) rs202189540 0.00006
NM_000545.8(HNF1A):c.1405C>T (p.His469Tyr) rs201811844 0.00006
NM_000545.8(HNF1A):c.871C>T (p.Pro291Ser) rs151256267 0.00006
NM_003597.5(KLF11):c.1130C>T (p.Thr377Ile) rs370236540 0.00006
NM_003597.5(KLF11):c.679A>G (p.Asn227Asp) rs200561467 0.00006
NM_053013.4(ENO3):c.1208G>A (p.Arg403His) rs561474067 0.00006
NM_175914.5(HNF4A):c.624C>T (p.Leu208=) rs759084238 0.00006
NM_000290.4(PGAM2):c.596-3T>C rs367994618 0.00005
NM_000352.6(ABCC8):c.2500C>T (p.Arg834Cys) rs140068774 0.00004
NM_000545.8(HNF1A):c.1015G>A (p.Gly339Ser) rs766790596 0.00004
NM_001715.3(BLK):c.*371C>A rs774038408 0.00004
NM_001715.3(BLK):c.465C>G (p.Thr155=) rs375035401 0.00004
NM_002500.5(NEUROD1):c.973C>A (p.Arg325Ser) rs368727469 0.00004
NM_005566.4(LDHA):c.951G>A (p.Lys317=) rs145889467 0.00004
NM_175914.5(HNF4A):c.*1C>A rs201330472 0.00004
NM_175914.5(HNF4A):c.50-4700G>A rs568730599 0.00004
NM_000207.3(INS):c.130G>A (p.Gly44Arg) rs765512575 0.00003
NM_000458.4(HNF1B):c.*88A>G rs762266343 0.00003
NM_000525.4(KCNJ11):c.1034C>T (p.Thr345Met) rs114215135 0.00003
NM_000545.8(HNF1A):c.-6C>T rs779387337 0.00003
NM_002500.5(NEUROD1):c.964G>A (p.Ala322Thr) rs754458532 0.00003
NM_000162.5(GCK):c.-452G>A rs187173652 0.00002
NM_000162.5(GCK):c.435C>G (p.Pro145=) rs773281783 0.00002
NM_000365.6(TPI1):c.116-13A>G rs782238701 0.00002
NM_000525.4(KCNJ11):c.*40C>T rs746850899 0.00002
NM_000525.4(KCNJ11):c.804C>T (p.Tyr268=) rs778225010 0.00002
NM_000545.8(HNF1A):c.264G>A (p.Glu88=) rs201223431 0.00002
NM_002300.8(LDHB):c.472C>T (p.Arg158Cys) rs532712842 0.00002
NM_005566.4(LDHA):c.-24-10C>G rs200267888 0.00002
NM_175914.5(HNF4A):c.1020C>G (p.Gly340=) rs758836138 0.00002
NM_000162.5(GCK):c.*297T>G rs527259972 0.00001
NM_000162.5(GCK):c.1253+12C>T rs768491249 0.00001
NM_000352.6(ABCC8):c.3558-8C>T rs544550330 0.00001
NM_000352.6(ABCC8):c.3989-10C>T rs373737642 0.00001
NM_000458.4(HNF1B):c.1025C>T (p.Ser342Phe) rs780035561 0.00001
NM_000545.8(HNF1A):c.1800C>T (p.Ser600=) rs756416683 0.00001
NM_000207.3(INS):c.153A>G (p.Thr51=) rs773789432
NM_000207.3(INS):c.72C>A (p.Ala24=) rs539284976
NM_000298.6(PKLR):c.375+10G>T rs8177971
NM_000352.6(ABCC8):c.3435C>T (p.Ser1145=) rs371089976
NM_000458.4(HNF1B):c.1474G>A (p.Gly492Ser)
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)
NM_000458.4(HNF1B):c.684C>G (p.Asn228Lys)
NM_000525.4(KCNJ11):c.-559G>C rs547932593
NM_000545.8(HNF1A):c.*589C>T rs55962050
NM_000545.8(HNF1A):c.977C>T (p.Ala326Val) rs369764257
NM_001366110.1(PAX4):c.*488GC[4] rs61297182
NM_001366110.1(PAX4):c.*493_*494insGCAC rs375106423
NM_001366110.1(PAX4):c.*667AT[1] rs59241875
NM_001366110.1(PAX4):c.598C>A (p.Arg200Ser) rs3824004
NM_001715.3(BLK):c.391C>T (p.Arg131Trp) rs73663163
NM_001715.3(BLK):c.473-7C>G rs200091252
NM_001715.3(BLK):c.617C>G (p.Ser206Cys) rs550720173
NM_001715.3(BLK):c.668C>T (p.Pro223Leu) rs202028021
NM_002300.8(LDHB):c.130-3_130-2del rs200371155
NM_003597.5(KLF11):c.*122C>T rs576978858
NM_003597.5(KLF11):c.*227dup rs34206941
NM_003597.5(KLF11):c.870C>T (p.Ile290=) rs149235463
NM_005566.3(LDHA):c.-152dup rs371317664
NM_053013.4(ENO3):c.788_789insATC (p.Ser263dup) rs548538086
NM_053013.4(ENO3):c.86-3del rs151153333
NM_175914.5(HNF4A):c.*1291TCCTCCCT[1] rs3834658
NM_175914.5(HNF4A):c.*3142del rs141563916
NM_178161.3(PTF1A):c.*157GAT[1] rs149560393

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