ClinVar Miner

List of variants in gene ENO3 studied for carbohydrate metabolism disease

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 279
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.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.774T>G (p.Asp258Glu) rs763327091 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.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=)

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