ClinVar Miner

List of variants reported as likely benign for pyruvate metabolism disorder by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 184
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HGVS dbSNP gnomAD frequency
NM_000207.3(INS):c.187+11T>C rs5506 0.93263
NM_053013.4(ENO3):c.-88G>A rs73343373 0.01987
NM_053013.4(ENO3):c.993C>T (p.Ala331=) rs2230257 0.01604
NM_001715.3(BLK):c.211G>A (p.Ala71Thr) rs55758736 0.01485
NM_001715.3(BLK):c.102C>T (p.Asp34=) rs75383960 0.00743
NM_000207.3(INS):c.188-16C>T rs5507 0.00616
NM_001807.6(CEL):c.1833G>C (p.Gly611=) rs1211933243 0.00547
NM_003477.3(PDHX):c.160+15C>G rs187304189 0.00501
NM_012096.3(APPL1):c.256T>C (p.Leu86=) rs147166062 0.00501
NM_000162.5(GCK):c.339C>T (p.Asp113=) rs149412035 0.00451
NM_175914.5(HNF4A):c.669A>G (p.Leu223=) rs139591750 0.00425
NM_000545.8(HNF1A):c.326+6_326+10dup rs56158114 0.00415
NM_001807.6(CEL):c.402C>G (p.Gly134=) rs150358550 0.00392
NM_175914.5(HNF4A):c.1137C>T (p.Asn379=) rs61737145 0.00384
NM_000162.5(GCK):c.1019+18G>A rs150914617 0.00322
NM_012096.3(APPL1):c.1262C>T (p.Pro421Leu) rs35776173 0.00300
NM_000162.5(GCK):c.954G>C (p.Gly318=) rs145764627 0.00287
NM_001358263.1(HK1):c.53T>C (p.Leu18Pro) rs79002951 0.00265
NM_000207.3(INS):c.188-10G>A rs41275198 0.00262
NM_175914.5(HNF4A):c.744C>T (p.Asp248=) rs6031592 0.00257
NM_000162.5(GCK):c.333C>T (p.Pro111=) rs61736250 0.00235
NM_003597.5(KLF11):c.86G>A (p.Arg29Gln) rs150096859 0.00188
NM_000108.5(DLD):c.826A>T (p.Thr276Ser) rs148873419 0.00175
NM_003597.5(KLF11):c.541G>A (p.Glu181Lys) rs146238335 0.00163
NM_003597.5(KLF11):c.225C>T (p.Val75=) rs144083374 0.00158
NM_001366110.1(PAX4):c.636C>T (p.Asp212=) rs141407429 0.00131
NM_000458.4(HNF1B):c.951C>G (p.Ala317=) rs145750370 0.00127
NM_000545.8(HNF1A):c.1446C>T (p.Ser482=) rs147366495 0.00117
NM_001807.6(CEL):c.1716C>G (p.Pro572=) rs200152972 0.00108
NM_000352.6(ABCC8):c.1924-17C>T rs117189973 0.00105
NM_000291.4(PGK1):c.909G>C (p.Val303=) rs142525614 0.00089
NM_000291.4(PGK1):c.390G>A (p.Gly130=) rs146350576 0.00085
NM_001366110.1(PAX4):c.69T>C (p.Pro23=) rs116124047 0.00085
NM_000545.8(HNF1A):c.1323G>A (p.Thr441=) rs138996307 0.00081
NM_001366110.1(PAX4):c.144+16C>T rs138902071 0.00080
NM_001807.6(CEL):c.1689A>G (p.Thr563=) rs199941432 0.00079
NM_001807.6(CEL):c.1692G>T (p.Gly564=) rs200716123 0.00079
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) rs137853247 0.00076
NM_001715.3(BLK):c.1338C>G (p.Arg446=) rs377160616 0.00073
NM_001807.6(CEL):c.1335C>T (p.Pro445=) rs371892814 0.00073
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669 0.00072
NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr) rs138687850 0.00072
NM_175914.5(HNF4A):c.1032T>A (p.Ile344=) rs145880201 0.00062
NM_001715.3(BLK):c.1075C>T (p.Arg359Cys) rs146505280 0.00059
NM_001366110.1(PAX4):c.116G>A (p.Arg39Gln) rs115887120 0.00051
NM_000162.5(GCK):c.46-5598A>T rs13306393 0.00046
NM_175914.5(HNF4A):c.999C>T (p.Ile333=) rs150247632 0.00045
NM_003477.3(PDHX):c.242-17C>T rs188930453 0.00040
NM_003597.5(KLF11):c.1503G>A (p.Pro501=) rs36091043 0.00040
NM_175914.5(HNF4A):c.921C>T (p.Asp307=) rs151168174 0.00039
NM_000525.4(KCNJ11):c.852C>A (p.Ile284=) rs1800854 0.00038
NM_001807.6(CEL):c.777+7G>A rs200749469 0.00038
NM_000352.6(ABCC8):c.2390+17G>C rs200705248 0.00035
NM_000291.4(PGK1):c.642-20A>C rs201622343 0.00026
NM_000458.4(HNF1B):c.1207-18T>C rs199849203 0.00026
NM_000162.5(GCK):c.208+17G>A rs199822205 0.00024
NM_001366110.1(PAX4):c.762C>T (p.Ile254=) rs147670794 0.00024
NM_001715.3(BLK):c.368+13G>A rs199644751 0.00024
NM_000545.8(HNF1A):c.1386C>T (p.Val462=) rs143015301 0.00021
NM_001715.3(BLK):c.424A>G (p.Ile142Val) rs562247916 0.00021
NM_005566.4(LDHA):c.777G>A (p.Leu259=) rs137996815 0.00021
NM_000545.8(HNF1A):c.1108-4G>A rs372892932 0.00020
NM_000545.8(HNF1A):c.1377G>A (p.Leu459=) rs118028009 0.00020
NM_175914.5(HNF4A):c.576C>T (p.Asp192=) rs759574096 0.00019
NM_001807.6(CEL):c.1677T>C (p.Pro559=) rs527908529 0.00017
NM_005566.4(LDHA):c.594G>C (p.Val198=) rs373534867 0.00017
NM_001366110.1(PAX4):c.563-11G>A rs376403180 0.00015
NM_000458.4(HNF1B):c.1046-12G>A rs201751705 0.00014
NM_001366110.1(PAX4):c.345G>A (p.Gln115=) rs115157546 0.00014
NM_005566.4(LDHA):c.558T>C (p.His186=) rs570034363 0.00014
NM_002500.5(NEUROD1):c.195C>T (p.Asp65=) rs147643871 0.00013
NM_001715.3(BLK):c.772+16C>T rs200129390 0.00011
NM_001807.6(CEL):c.358G>A (p.Val120Ile) rs201336247 0.00011
NM_000291.4(PGK1):c.937-8C>T rs367749559 0.00010
NM_000352.6(ABCC8):c.2304C>T (p.Pro768=) rs199541853 0.00010
NM_000352.6(ABCC8):c.3513C>T (p.Ala1171=) rs778961697 0.00010
NM_000162.5(GCK):c.9C>T (p.Asp3=) rs142553382 0.00009
NM_000352.6(ABCC8):c.4425A>G (p.Thr1475=) rs368134766 0.00009
NM_000458.4(HNF1B):c.1534+11G>A rs373875820 0.00009
NM_001366110.1(PAX4):c.498C>T (p.His166=) rs143156250 0.00009
NM_000291.4(PGK1):c.129T>C (p.Ala43=) rs781822299 0.00008
NM_000352.6(ABCC8):c.1662T>G (p.Ala554=) rs368782953 0.00008
NM_000352.6(ABCC8):c.765C>T (p.Ile255=) rs753335564 0.00008
NM_000458.4(HNF1B):c.660T>C (p.Asp220=) rs779375959 0.00008
NM_000209.4(PDX1):c.498A>G (p.Leu166=) rs780117858 0.00007
NM_000458.4(HNF1B):c.1534+10C>T rs368168569 0.00007
NM_001715.3(BLK):c.859G>A (p.Val287Met) rs1042687 0.00007
NM_005566.4(LDHA):c.127-14T>C rs764597107 0.00007
NM_000545.8(HNF1A):c.1071G>A (p.Glu357=) rs376279459 0.00006
NM_001715.3(BLK):c.675G>A (p.Pro225=) rs761122806 0.00006
NM_001807.6(CEL):c.670-4G>A rs371303105 0.00006
NM_002500.5(NEUROD1):c.1050C>G (p.Leu350=) rs778703927 0.00006
NM_175914.5(HNF4A):c.353G>A (p.Arg118Gln) rs764196059 0.00006
NM_000162.5(GCK):c.270G>A (p.Lys90=) rs571528578 0.00005
NM_000352.6(ABCC8):c.2883G>A (p.Ser961=) rs556416269 0.00005
NM_175914.5(HNF4A):c.670+7C>T rs376544046 0.00005
NM_000162.5(GCK):c.834C>T (p.Asp278=) rs200071687 0.00004
NM_000291.4(PGK1):c.116+8C>T rs369581587 0.00004
NM_000352.6(ABCC8):c.1281G>A (p.Gln427=) rs112488640 0.00004
NM_000352.6(ABCC8):c.4677C>T (p.Phe1559=) rs771106160 0.00004
NM_000352.6(ABCC8):c.480C>T (p.His160=) rs769858502 0.00004
NM_000458.4(HNF1B):c.723G>A (p.Ala241=) rs768490293 0.00004
NM_000545.8(HNF1A):c.1015G>A (p.Gly339Ser) rs766790596 0.00004
NM_000545.8(HNF1A):c.150C>T (p.Cys50=) rs193922583 0.00004
NM_000545.8(HNF1A):c.713+13G>A rs755961371 0.00004
NM_001715.3(BLK):c.465C>G (p.Thr155=) rs375035401 0.00004
NM_005566.4(LDHA):c.951G>A (p.Lys317=) rs145889467 0.00004
NM_175914.5(HNF4A):c.1026C>T (p.Ala342=) rs751892618 0.00004
NM_175914.5(HNF4A):c.468G>A (p.Ala156=) rs758124162 0.00004
NM_000291.4(PGK1):c.736A>G (p.Lys246Glu) rs144399762 0.00003
NM_000352.6(ABCC8):c.603G>A (p.Pro201=) rs765113879 0.00003
NM_000352.6(ABCC8):c.822+7G>A rs765890511 0.00003
NM_175914.5(HNF4A):c.1064-18G>A rs773235761 0.00003
NM_000162.5(GCK):c.10G>A (p.Asp4Asn) rs202091228 0.00002
NM_000291.4(PGK1):c.539A>G (p.Asn180Ser) rs781839243 0.00002
NM_000352.6(ABCC8):c.1800C>T (p.Thr600=) rs371181016 0.00002
NM_000352.6(ABCC8):c.2473C>A (p.Arg825=) rs779736828 0.00002
NM_000352.6(ABCC8):c.2634C>T (p.Asp878=) rs754554936 0.00002
NM_000352.6(ABCC8):c.702C>T (p.Asn234=) rs758289249 0.00002
NM_000458.4(HNF1B):c.314A>G (p.Glu105Gly) rs375625110 0.00002
NM_001715.3(BLK):c.27G>A (p.Pro9=) rs536630306 0.00002
NM_005566.4(LDHA):c.-24-10C>G rs200267888 0.00002
NM_000108.5(DLD):c.1500T>C (p.Ala500=) rs773097788 0.00001
NM_000209.4(PDX1):c.216C>T (p.Pro72=) rs193922353 0.00001
NM_000352.6(ABCC8):c.1068C>T (p.Tyr356=) rs776713811 0.00001
NM_000352.6(ABCC8):c.148+13A>C rs773823246 0.00001
NM_000352.6(ABCC8):c.1581G>A (p.Arg527=) rs750360514 0.00001
NM_000352.6(ABCC8):c.2226T>C (p.Leu742=) rs757507467 0.00001
NM_000352.6(ABCC8):c.2916G>A (p.Glu972=) rs1954592292 0.00001
NM_000352.6(ABCC8):c.3142A>C (p.Arg1048=) rs1387302006 0.00001
NM_000352.6(ABCC8):c.4236G>A (p.Leu1412=) rs965734923 0.00001
NM_000352.6(ABCC8):c.4569G>A (p.Val1523=) rs1953753838 0.00001
NM_000352.6(ABCC8):c.660C>T (p.Pro220=) rs773643362 0.00001
NM_000352.6(ABCC8):c.894C>A (p.Arg298=) rs375094504 0.00001
NM_000458.4(HNF1B):c.66C>A (p.Thr22=) rs906719754 0.00001
NM_000525.4(KCNJ11):c.450C>T (p.Ile150=) rs761588360 0.00001
NM_000545.8(HNF1A):c.153C>T (p.Gly51=) rs761779651 0.00001
NM_000545.8(HNF1A):c.685C>A (p.Arg229=) rs769086289 0.00001
NM_001715.3(BLK):c.1371C>T (p.Pro457=) rs1356289485 0.00001
NM_175914.5(HNF4A):c.-79C>T rs373143621 0.00001
NM_000162.5(GCK):c.579+12C>G rs202001955
NM_000207.3(INS):c.67G>A (p.Ala23Thr) rs13306444
NM_000209.4(PDX1):c.312C>T (p.Ala104=) rs535722487
NM_000209.4(PDX1):c.97C>G (p.Pro33Ala) rs192902098
NM_000291.4(PGK1):c.409G>T (p.Gly137Trp)
NM_000291.4(PGK1):c.545C>T (p.Pro182Leu)
NM_000291.4(PGK1):c.937-17dup rs782576397
NM_000352.6(ABCC8):c.2319G>C (p.Ser773=) rs766321878
NM_000352.6(ABCC8):c.3168C>T (p.Cys1056=) rs1799860
NM_000352.6(ABCC8):c.3414G>A (p.Thr1138=) rs762412267
NM_000352.6(ABCC8):c.3765T>A (p.Gly1255=) rs775699878
NM_000352.6(ABCC8):c.4090G>A (p.Val1364Ile) rs138642224
NM_000352.6(ABCC8):c.413-5G>C rs186946111
NM_000352.6(ABCC8):c.4152G>A (p.Lys1384=) rs1250433233
NM_000352.6(ABCC8):c.4434G>A (p.Gly1478=) rs1953794808
NM_000352.6(ABCC8):c.795G>T (p.Arg265=) rs1386314454
NM_000458.4(HNF1B):c.1006C>A (p.His336Asn) rs138986885
NM_000458.4(HNF1B):c.1474G>A (p.Gly492Ser)
NM_000458.4(HNF1B):c.544+14T>A rs759120365
NM_000458.4(HNF1B):c.657C>T (p.Ser219=) rs148713761
NM_000458.4(HNF1B):c.831G>A (p.Gly277=) rs199797518
NM_000525.4(KCNJ11):c.66_67inv (p.Lys23Glu)
NM_000525.4(KCNJ11):c.99C>T (p.Ala33=) rs1489389760
NM_000545.8(HNF1A):c.-167TGGGGGT[3] rs538476099
NM_000545.8(HNF1A):c.1719_1720inv (p.Ser574Gly)
NM_000545.8(HNF1A):c.498C>T (p.Tyr166=) rs1876675633
NM_001366110.1(PAX4):c.116G>T (p.Arg39Leu) rs115887120
NM_001715.3(BLK):c.269+13G>C rs144839649
NM_001715.3(BLK):c.591G>T (p.Ser197=) rs140834602
NM_001807.6(CEL):c.2184_2216del (p.Gly729_Thr739del)
NM_001807.6(CEL):c.2184_2216dup (p.Thr739_Asp740insGlyAspSerGluAlaAlaProValProProThr)
NM_001807.6(CEL):c.466_479del (p.Val156fs) rs572853045
NM_001807.6(CEL):c.73G>A (p.Ala25Thr)
NM_001807.6(CEL):c.850C>G (p.Arg284Gly) rs369868891
NM_001807.6(CEL):c.99G>C (p.Val33=) rs199971842
NM_002500.5(NEUROD1):c.*1A>G
NM_002500.5(NEUROD1):c.129C>A (p.Leu43=) rs116321775
NM_002500.5(NEUROD1):c.189T>C (p.Asp63=) rs2105595687
NM_003597.5(KLF11):c.1050G>A (p.Pro350=) rs145193520
NM_003597.5(KLF11):c.42+18C>G rs1476684022
NM_003597.5(KLF11):c.870C>T (p.Ile290=) rs149235463
NM_053013.4(ENO3):c.789G>C (p.Ser263=) rs75748087
NM_053013.4(ENO3):c.789delinsATCC (p.Ser263dup) rs1567672833
NM_175914.5(HNF4A):c.912C>A (p.Arg304=) rs760811566

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