ClinVar Miner

List of variants in gene ENO3 studied for carbohydrate metabolism disease

Included ClinVar conditions (302):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 280
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_053013.4(ENO3):c.212A>G (p.Asn71Ser) rs238238 0.65415
NM_053013.4(ENO3):c.-3+3C>T rs366577 0.45968
NM_053013.4(ENO3):c.254T>C (p.Val85Ala) rs238239 0.43006
NM_053013.4(ENO3):c.1236-17C>T rs77614413 0.02756
NM_053013.4(ENO3):c.240+17G>A rs75279666 0.02755
NM_053013.3(ENO3):c.-88G>A rs73343373 0.01987
NM_053013.4(ENO3):c.1235+3A>G rs73973669 0.01622
NM_053013.4(ENO3):c.993C>T (p.Ala331=) rs2230257 0.01604
NM_053013.4(ENO3):c.994G>A (p.Val332Ile) rs61735456 0.00983
NM_053013.4(ENO3):c.1041C>T (p.Ile347=) rs114208569 0.00794
NM_053013.4(ENO3):c.1067+18C>T rs191862496 0.00268
NM_053013.4(ENO3):c.828C>T (p.Leu276=) rs35119507 0.00190
NM_053013.4(ENO3):c.86-10C>T rs201571802 0.00174
NM_053013.4(ENO3):c.417G>A (p.Gly139=) rs142390642 0.00133
NM_053013.4(ENO3):c.1176+8T>C rs111926990 0.00128
NM_053013.4(ENO3):c.226G>C (p.Ala76Pro) rs143945974 0.00076
NM_053013.4(ENO3):c.865+3G>A rs147327991 0.00041
NM_053013.4(ENO3):c.154G>A (p.Gly52Arg) rs757769893 0.00022
NM_053013.4(ENO3):c.115G>A (p.Ala39Thr) rs141103742 0.00021
NM_053013.4(ENO3):c.737T>C (p.Val246Ala) rs200479387 0.00020
NM_053013.4(ENO3):c.467G>A (p.Gly156Asp) rs121918403 0.00019
NM_053013.4(ENO3):c.249C>T (p.Ser83=) rs145859308 0.00016
NM_053013.4(ENO3):c.201G>A (p.Glu67=) rs377545954 0.00014
NM_053013.4(ENO3):c.1121G>A (p.Gly374Glu) rs121918404 0.00012
NM_053013.4(ENO3):c.181+5G>A rs200793919 0.00010
NM_053013.4(ENO3):c.444+20C>T rs778632605 0.00010
NM_053013.4(ENO3):c.866-34_866-13del rs1322708822 0.00010
NM_053013.4(ENO3):c.240+8G>A rs768540512 0.00009
NM_053013.4(ENO3):c.934A>C (p.Asn312His) rs145968147 0.00009
NM_053013.4(ENO3):c.1093dup (p.Trp365fs) rs771868807 0.00008
NM_053013.4(ENO3):c.698C>T (p.Ala233Val) rs142982636 0.00008
NM_053013.4(ENO3):c.1235+7C>T rs759839410 0.00007
NM_053013.4(ENO3):c.760A>C (p.Asn254His) rs561878819 0.00007
NM_053013.4(ENO3):c.1208G>A (p.Arg403His) rs561474067 0.00006
NM_053013.4(ENO3):c.166C>T (p.Arg56Cys) rs139073445 0.00006
NM_053013.4(ENO3):c.926_929dup (p.Val311fs) rs751624358 0.00006
NM_053013.4(ENO3):c.832G>A (p.Glu278Lys) rs370822982 0.00005
NM_053013.4(ENO3):c.11A>C (p.Gln4Pro) rs138211167 0.00004
NM_053013.4(ENO3):c.182-16C>T rs557068790 0.00004
NM_053013.4(ENO3):c.548G>A (p.Arg183His) rs756594079 0.00004
NM_053013.4(ENO3):c.64G>A (p.Val22Met) rs148673221 0.00004
NM_053013.4(ENO3):c.774T>G (p.Asp258Glu) rs763327091 0.00004
NM_053013.4(ENO3):c.806G>A (p.Arg269Gln) rs754758809 0.00004
NM_053013.4(ENO3):c.83A>C (p.Lys28Thr) rs751639631 0.00004
NM_053013.4(ENO3):c.1047G>A (p.Ser349=) rs527864393 0.00003
NM_053013.4(ENO3):c.1089T>C (p.Asn363=) rs533687145 0.00003
NM_053013.4(ENO3):c.1176+7G>A rs780236325 0.00003
NM_053013.4(ENO3):c.927G>A (p.Ser309=) rs142501820 0.00003
NM_053013.4(ENO3):c.1160G>A (p.Gly387Glu) rs761121808 0.00002
NM_053013.4(ENO3):c.554G>T (p.Gly185Val) rs200324278 0.00002
NM_053013.4(ENO3):c.555C>T (p.Gly185=) rs757606682 0.00002
NM_053013.4(ENO3):c.1046C>T (p.Ser349Leu) rs777965106 0.00001
NM_053013.4(ENO3):c.1180A>C (p.Lys394Gln) rs1322216100 0.00001
NM_053013.4(ENO3):c.1198C>T (p.Arg400Cys) rs534374372 0.00001
NM_053013.4(ENO3):c.159C>A (p.Asp53Glu) rs746259097 0.00001
NM_053013.4(ENO3):c.182G>A (p.Gly61Glu) rs1971599259 0.00001
NM_053013.4(ENO3):c.241-11C>T rs769465776 0.00001
NM_053013.4(ENO3):c.340G>A (p.Val114Met) rs761323443 0.00001
NM_053013.4(ENO3):c.363G>A (p.Ala121=) rs201872558 0.00001
NM_053013.4(ENO3):c.403G>A (p.Ala135Thr) rs747456400 0.00001
NM_053013.4(ENO3):c.444+17G>A rs757072121 0.00001
NM_053013.4(ENO3):c.444+9A>G rs567523833 0.00001
NM_053013.4(ENO3):c.493A>G (p.Met165Val) rs781694580 0.00001
NM_053013.4(ENO3):c.559G>A (p.Glu187Lys) rs772218199 0.00001
NM_053013.4(ENO3):c.66G>A (p.Val22=) rs373571348 0.00001
NM_053013.4(ENO3):c.716A>G (p.Lys239Arg) rs764872268 0.00001
NM_053013.4(ENO3):c.724A>T (p.Ile242Phe) rs1368067716 0.00001
NM_053013.4(ENO3):c.736G>A (p.Val246Met) rs756256626 0.00001
NM_053013.4(ENO3):c.785A>G (p.Lys262Arg) rs886053166 0.00001
NM_053013.4(ENO3):c.79G>A (p.Ala27Thr) rs766310955 0.00001
NM_053013.4(ENO3):c.866T>C (p.Val289Ala) rs780704553 0.00001
NM_053013.4(ENO3):c.908C>T (p.Thr303Ile) rs772062073 0.00001
NM_053013.4(ENO3):c.1037_1041dup (p.Gly348fs) rs1298530904
NM_053013.4(ENO3):c.103G>A (p.Val35Met) rs1317890147
NM_053013.4(ENO3):c.1047G>C (p.Ser349=)
NM_053013.4(ENO3):c.105G>A (p.Val35=)
NM_053013.4(ENO3):c.1067+16C>T
NM_053013.4(ENO3):c.1067+1G>A
NM_053013.4(ENO3):c.1070G>A (p.Cys357Tyr) rs2151144481
NM_053013.4(ENO3):c.1073A>T (p.Lys358Ile)
NM_053013.4(ENO3):c.108C>T (p.Pro36=)
NM_053013.4(ENO3):c.1095G>A (p.Trp365Ter)
NM_053013.4(ENO3):c.1097G>A (p.Gly366Glu) rs1971740543
NM_053013.4(ENO3):c.1115G>A (p.Arg372His)
NM_053013.4(ENO3):c.1123G>A (p.Glu375Lys) rs770822790
NM_053013.4(ENO3):c.1176+10G>A
NM_053013.4(ENO3):c.1176+16C>T
NM_053013.4(ENO3):c.1176+2T>C
NM_053013.4(ENO3):c.1176G>A (p.Gln392=)
NM_053013.4(ENO3):c.1177-16C>A
NM_053013.4(ENO3):c.1177-16C>T rs372893427
NM_053013.4(ENO3):c.1177-7T>G rs1567674013
NM_053013.4(ENO3):c.1177A>G (p.Ile393Val)
NM_053013.4(ENO3):c.1178T>G (p.Ile393Ser)
NM_053013.4(ENO3):c.1181A>G (p.Lys394Arg)
NM_053013.4(ENO3):c.1185T>C (p.Thr395=)
NM_053013.4(ENO3):c.1194dup (p.Cys399fs) rs757440599
NM_053013.4(ENO3):c.1199G>A (p.Arg400His)
NM_053013.4(ENO3):c.1202C>T (p.Ser401Leu)
NM_053013.4(ENO3):c.1203G>A (p.Ser401=)
NM_053013.4(ENO3):c.1215C>T (p.Ala405=)
NM_053013.4(ENO3):c.1221C>A (p.Tyr407Ter)
NM_053013.4(ENO3):c.1233G>A (p.Met411Ile)
NM_053013.4(ENO3):c.1235+19G>A
NM_053013.4(ENO3):c.1235+5A>G
NM_053013.4(ENO3):c.1236-14T>C
NM_053013.4(ENO3):c.1236G>C (p.Arg412Ser)
NM_053013.4(ENO3):c.1239C>T (p.Ile413=)
NM_053013.4(ENO3):c.1240G>A (p.Glu414Lys)
NM_053013.4(ENO3):c.1257C>A (p.Asp419Glu)
NM_053013.4(ENO3):c.1272T>C (p.Ala424=)
NM_053013.4(ENO3):c.1272T>G (p.Ala424=)
NM_053013.4(ENO3):c.1277G>A (p.Arg426His)
NM_053013.4(ENO3):c.1286G>A (p.Arg429His)
NM_053013.4(ENO3):c.1291C>A (p.Pro431Thr) rs1821447881
NM_053013.4(ENO3):c.1296G>C (p.Lys432Asn)
NM_053013.4(ENO3):c.1303T>C (p.Ter435Arg)
NM_053013.4(ENO3):c.131A>G (p.Tyr44Cys)
NM_053013.4(ENO3):c.132T>C (p.Tyr44=) rs1971587909
NM_053013.4(ENO3):c.135G>A (p.Glu45=)
NM_053013.4(ENO3):c.142G>A (p.Glu48Lys)
NM_053013.4(ENO3):c.151G>T (p.Asp51Tyr)
NM_053013.4(ENO3):c.153C>T (p.Asp51=)
NM_053013.4(ENO3):c.181+16C>T
NM_053013.4(ENO3):c.181+17G>A
NM_053013.4(ENO3):c.181+17G>C
NM_053013.4(ENO3):c.181+6_181+8del
NM_053013.4(ENO3):c.182-18A>G
NM_053013.4(ENO3):c.182-7T>C
NM_053013.4(ENO3):c.186C>T (p.Val62=)
NM_053013.4(ENO3):c.209A>G (p.Asn70Ser)
NM_053013.4(ENO3):c.211_212delinsGG (p.Asn71Gly)
NM_053013.4(ENO3):c.228T>C (p.Ala76=)
NM_053013.4(ENO3):c.228T>G (p.Ala76=)
NM_053013.4(ENO3):c.22G>A (p.Ala8Thr)
NM_053013.4(ENO3):c.235C>T (p.Gln79Ter)
NM_053013.4(ENO3):c.240+13G>T rs1555553596
NM_053013.4(ENO3):c.240+16C>T
NM_053013.4(ENO3):c.240+18C>T
NM_053013.4(ENO3):c.240+20C>G
NM_053013.4(ENO3):c.240+9G>A
NM_053013.4(ENO3):c.240G>A (p.Lys80=) rs980318534
NM_053013.4(ENO3):c.255G>A (p.Val85=)
NM_053013.4(ENO3):c.262G>T (p.Glu88Ter)
NM_053013.4(ENO3):c.296G>A (p.Gly99Glu) rs1597699325
NM_053013.4(ENO3):c.298A>T (p.Thr100Ser)
NM_053013.4(ENO3):c.300C>T (p.Thr100=)
NM_053013.4(ENO3):c.310+11G>C
NM_053013.4(ENO3):c.310+18G>A
NM_053013.4(ENO3):c.310+1G>C rs113298706
NM_053013.4(ENO3):c.310+3G>A
NM_053013.4(ENO3):c.310+7G>A
NM_053013.4(ENO3):c.311-15C>T
NM_053013.4(ENO3):c.326A>G (p.Asn109Ser) rs143749502
NM_053013.4(ENO3):c.339C>T (p.Gly113=)
NM_053013.4(ENO3):c.34T>C (p.Leu12=)
NM_053013.4(ENO3):c.351C>T (p.Ala117=)
NM_053013.4(ENO3):c.352G>A (p.Val118Met)
NM_053013.4(ENO3):c.354G>C (p.Val118=)
NM_053013.4(ENO3):c.360G>C (p.Lys120Asn)
NM_053013.4(ENO3):c.378G>A (p.Lys126=)
NM_053013.4(ENO3):c.378G>C (p.Lys126Asn)
NM_053013.4(ENO3):c.381G>T (p.Gly127=)
NM_053013.4(ENO3):c.382dup (p.Val128fs)
NM_053013.4(ENO3):c.383T>A (p.Val128Asp)
NM_053013.4(ENO3):c.384C>T (p.Val128=)
NM_053013.4(ENO3):c.394C>T (p.Arg132Cys)
NM_053013.4(ENO3):c.39C>T (p.Asp13=)
NM_053013.4(ENO3):c.3G>A (p.Met1Ile)
NM_053013.4(ENO3):c.404C>T (p.Ala135Val)
NM_053013.4(ENO3):c.411C>T (p.Leu137=)
NM_053013.4(ENO3):c.412G>A (p.Ala138Thr) rs202030238
NM_053013.4(ENO3):c.412G>C (p.Ala138Pro)
NM_053013.4(ENO3):c.444+13A>G
NM_053013.4(ENO3):c.444+14C>T
NM_053013.4(ENO3):c.444+1G>T
NM_053013.4(ENO3):c.444+5G>A
NM_053013.4(ENO3):c.444+7G>A
NM_053013.4(ENO3):c.445-11C>T
NM_053013.4(ENO3):c.445-13C>T
NM_053013.4(ENO3):c.445-15C>T
NM_053013.4(ENO3):c.445-18dup
NM_053013.4(ENO3):c.451A>G (p.Asn151Asp)
NM_053013.4(ENO3):c.452A>G (p.Asn151Ser) rs560867570
NM_053013.4(ENO3):c.462C>T (p.Asn154=)
NM_053013.4(ENO3):c.468C>T (p.Gly156=)
NM_053013.4(ENO3):c.469T>G (p.Ser157Ala)
NM_053013.4(ENO3):c.475G>C (p.Ala159Pro) rs1971675855
NM_053013.4(ENO3):c.483C>A (p.Asn161Lys)
NM_053013.4(ENO3):c.496C>G (p.Gln166Glu) rs1179493512
NM_053013.4(ENO3):c.49A>G (p.Asn17Asp) rs1971550702
NM_053013.4(ENO3):c.501G>A (p.Glu167=)
NM_053013.4(ENO3):c.518T>G (p.Val173Gly) rs1597702371
NM_053013.4(ENO3):c.522A>G (p.Gly174=)
NM_053013.4(ENO3):c.524C>T (p.Ala175Val)
NM_053013.4(ENO3):c.531C>T (p.Ser177=)
NM_053013.4(ENO3):c.540A>G (p.Glu180=)
NM_053013.4(ENO3):c.544A>G (p.Met182Val) rs1401088566
NM_053013.4(ENO3):c.547C>T (p.Arg183Cys)
NM_053013.4(ENO3):c.556G>A (p.Ala186Thr)
NM_053013.4(ENO3):c.563T>C (p.Val188Ala)
NM_053013.4(ENO3):c.564C>G (p.Val188=)
NM_053013.4(ENO3):c.56C>T (p.Thr19Met)
NM_053013.4(ENO3):c.570C>T (p.His190=)
NM_053013.4(ENO3):c.573C>A (p.His191Gln)
NM_053013.4(ENO3):c.613A>G (p.Thr205Ala)
NM_053013.4(ENO3):c.615C>T (p.Thr205=)
NM_053013.4(ENO3):c.618T>C (p.Asn206=)
NM_053013.4(ENO3):c.623G>C (p.Gly208Ala)
NM_053013.4(ENO3):c.639C>A (p.Phe213Leu) rs373847361
NM_053013.4(ENO3):c.639C>T (p.Phe213=)
NM_053013.4(ENO3):c.651C>T (p.Ile217=)
NM_053013.4(ENO3):c.657G>A (p.Glu219=)
NM_053013.4(ENO3):c.662A>G (p.Asn221Ser)
NM_053013.4(ENO3):c.667+11del
NM_053013.4(ENO3):c.667+17C>G
NM_053013.4(ENO3):c.667+24dup rs754023017
NM_053013.4(ENO3):c.668-6C>T
NM_053013.4(ENO3):c.675G>A (p.Glu225=)
NM_053013.4(ENO3):c.687G>A (p.Thr229=)
NM_053013.4(ENO3):c.687G>C (p.Thr229=)
NM_053013.4(ENO3):c.692_707dup (p.Asp238fs) rs757486701
NM_053013.4(ENO3):c.699G>T (p.Ala233=)
NM_053013.4(ENO3):c.6C>T (p.Ala2=)
NM_053013.4(ENO3):c.710C>G (p.Pro237Arg)
NM_053013.4(ENO3):c.710del (p.Pro237fs) rs778664924
NM_053013.4(ENO3):c.714C>T (p.Asp238=)
NM_053013.4(ENO3):c.726C>A (p.Ile242=)
NM_053013.4(ENO3):c.726C>T (p.Ile242=)
NM_053013.4(ENO3):c.738G>A (p.Val246=) rs1266761542
NM_053013.4(ENO3):c.744A>G (p.Ala248=)
NM_053013.4(ENO3):c.750G>A (p.Glu250=)
NM_053013.4(ENO3):c.758G>A (p.Arg253His)
NM_053013.4(ENO3):c.771C>G (p.Tyr257Ter)
NM_053013.4(ENO3):c.771C>T (p.Tyr257=)
NM_053013.4(ENO3):c.772G>A (p.Asp258Asn) rs772780015
NM_053013.4(ENO3):c.772G>T (p.Asp258Tyr)
NM_053013.4(ENO3):c.77C>A (p.Thr26Lys) rs199677913
NM_053013.4(ENO3):c.77C>T (p.Thr26Met) rs199677913
NM_053013.4(ENO3):c.788C>T (p.Ser263Leu) rs748865733
NM_053013.4(ENO3):c.788_789insATC (p.Ser263dup) rs548538086
NM_053013.4(ENO3):c.789G>A (p.Ser263=) rs75748087
NM_053013.4(ENO3):c.789G>C (p.Ser263=) rs75748087
NM_053013.4(ENO3):c.789delinsATCC (p.Ser263dup) rs1567672833
NM_053013.4(ENO3):c.78G>A (p.Thr26=) rs758704680
NM_053013.4(ENO3):c.801C>T (p.Pro267=)
NM_053013.4(ENO3):c.802G>A (p.Ala268Thr)
NM_053013.4(ENO3):c.829G>A (p.Gly277Arg)
NM_053013.4(ENO3):c.834del (p.Glu278fs) rs779920188
NM_053013.4(ENO3):c.846C>G (p.Ser282Arg)
NM_053013.4(ENO3):c.85+14C>T
NM_053013.4(ENO3):c.85+15A>T
NM_053013.4(ENO3):c.85+4A>T
NM_053013.4(ENO3):c.86-12C>T
NM_053013.4(ENO3):c.86-18C>T
NM_053013.4(ENO3):c.86-3del rs151153333
NM_053013.4(ENO3):c.865+11C>T
NM_053013.4(ENO3):c.865+12G>A
NM_053013.4(ENO3):c.865+7C>T
NM_053013.4(ENO3):c.865+8G>A
NM_053013.4(ENO3):c.866-13C>T
NM_053013.4(ENO3):c.866-15T>C
NM_053013.4(ENO3):c.866-4C>A
NM_053013.4(ENO3):c.866-8C>A
NM_053013.4(ENO3):c.877G>A (p.Glu293Lys)
NM_053013.4(ENO3):c.87C>A (p.Gly29=) rs771319383
NM_053013.4(ENO3):c.87C>T (p.Gly29=)
NM_053013.4(ENO3):c.88C>T (p.Arg30Ter)
NM_053013.4(ENO3):c.910del (p.Trp304fs)
NM_053013.4(ENO3):c.914C>T (p.Thr305Ile)
NM_053013.4(ENO3):c.915C>G (p.Thr305=)
NM_053013.4(ENO3):c.915C>T (p.Thr305=) rs565982583
NM_053013.4(ENO3):c.926C>T (p.Ser309Leu)
NM_053013.4(ENO3):c.92T>A (p.Phe31Tyr)
NM_053013.4(ENO3):c.931G>T (p.Val311Leu)
NM_053013.4(ENO3):c.94C>T (p.Arg32Ter)
NM_053013.4(ENO3):c.95G>A (p.Arg32Gln)
NM_053013.4(ENO3):c.969C>T (p.Thr323=)
NM_053013.4(ENO3):c.981G>C (p.Arg327Ser)
NM_053013.4(ENO3):c.99A>T (p.Ala33=)

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.