ClinVar Miner

List of variants in gene ENO3 reported as likely benign for Glycogen storage disease due to muscle beta-enolase deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 148
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HGVS dbSNP gnomAD frequency
NM_053013.4(ENO3):c.-88G>A rs73343373 0.01987
NM_053013.4(ENO3):c.993C>T (p.Ala331=) rs2230257 0.01604
NM_053013.4(ENO3):c.86-10C>T rs201571802 0.00174
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.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.1208G>A (p.Arg403His) rs561474067 0.00006
NM_053013.4(ENO3):c.182-16C>T rs557068790 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.555C>T (p.Gly185=) rs757606682 0.00002
NM_053013.4(ENO3):c.241-11C>T rs769465776 0.00001
NM_053013.4(ENO3):c.363G>A (p.Ala121=) rs201872558 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.66G>A (p.Val22=) rs373571348 0.00001
NM_053013.4(ENO3):c.1011C>T (p.Cys337=)
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+17C>T
NM_053013.4(ENO3):c.1074A>G (p.Lys358=)
NM_053013.4(ENO3):c.108C>T (p.Pro36=)
NM_053013.4(ENO3):c.1164C>G (p.Leu388=)
NM_053013.4(ENO3):c.1176+10G>A
NM_053013.4(ENO3):c.1176+16C>G
NM_053013.4(ENO3):c.1176+16C>T
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.1185T>C (p.Thr395=)
NM_053013.4(ENO3):c.1188C>T (p.Gly396=)
NM_053013.4(ENO3):c.1203G>A (p.Ser401=)
NM_053013.4(ENO3):c.1215C>T (p.Ala405=)
NM_053013.4(ENO3):c.1235+10G>T
NM_053013.4(ENO3):c.1235+19G>A
NM_053013.4(ENO3):c.1235+8G>A
NM_053013.4(ENO3):c.1236-14T>C
NM_053013.4(ENO3):c.1239C>T (p.Ile413=)
NM_053013.4(ENO3):c.123G>A (p.Thr41=)
NM_053013.4(ENO3):c.1272T>C (p.Ala424=)
NM_053013.4(ENO3):c.1272T>G (p.Ala424=)
NM_053013.4(ENO3):c.132T>C (p.Tyr44=) rs1971587909
NM_053013.4(ENO3):c.135G>A (p.Glu45=)
NM_053013.4(ENO3):c.153C>T (p.Asp51=)
NM_053013.4(ENO3):c.168C>A (p.Arg56=)
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.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.228T>C (p.Ala76=)
NM_053013.4(ENO3):c.228T>G (p.Ala76=)
NM_053013.4(ENO3):c.240+16C>T
NM_053013.4(ENO3):c.240+18C>T
NM_053013.4(ENO3):c.240+20C>A
NM_053013.4(ENO3):c.240+20C>G
NM_053013.4(ENO3):c.240+9G>A
NM_053013.4(ENO3):c.241-9C>T
NM_053013.4(ENO3):c.255G>A (p.Val85=)
NM_053013.4(ENO3):c.300C>G (p.Thr100=)
NM_053013.4(ENO3):c.300C>T (p.Thr100=)
NM_053013.4(ENO3):c.310+11G>C
NM_053013.4(ENO3):c.310+17C>T
NM_053013.4(ENO3):c.310+18G>A
NM_053013.4(ENO3):c.310+7G>A
NM_053013.4(ENO3):c.311-15C>T
NM_053013.4(ENO3):c.311-20T>G
NM_053013.4(ENO3):c.339C>T (p.Gly113=)
NM_053013.4(ENO3):c.345C>T (p.Ser115=)
NM_053013.4(ENO3):c.34T>C (p.Leu12=)
NM_053013.4(ENO3):c.351C>T (p.Ala117=)
NM_053013.4(ENO3):c.354G>C (p.Val118=)
NM_053013.4(ENO3):c.378G>A (p.Lys126=)
NM_053013.4(ENO3):c.381G>T (p.Gly127=)
NM_053013.4(ENO3):c.384C>T (p.Val128=)
NM_053013.4(ENO3):c.39C>T (p.Asp13=)
NM_053013.4(ENO3):c.402C>T (p.Ile134=)
NM_053013.4(ENO3):c.411C>T (p.Leu137=)
NM_053013.4(ENO3):c.444+13A>G
NM_053013.4(ENO3):c.444+14C>T
NM_053013.4(ENO3):c.444+16C>T
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.445-18A>G
NM_053013.4(ENO3):c.445-18dup
NM_053013.4(ENO3):c.453T>C (p.Asn151=)
NM_053013.4(ENO3):c.462C>T (p.Asn154=)
NM_053013.4(ENO3):c.468C>T (p.Gly156=)
NM_053013.4(ENO3):c.501G>A (p.Glu167=)
NM_053013.4(ENO3):c.522A>G (p.Gly174=)
NM_053013.4(ENO3):c.531C>T (p.Ser177=)
NM_053013.4(ENO3):c.540A>G (p.Glu180=)
NM_053013.4(ENO3):c.564C>G (p.Val188=)
NM_053013.4(ENO3):c.570C>T (p.His190=)
NM_053013.4(ENO3):c.615C>T (p.Thr205=)
NM_053013.4(ENO3):c.618T>C (p.Asn206=)
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.667+11del
NM_053013.4(ENO3):c.667+12G>A
NM_053013.4(ENO3):c.667+17C>G
NM_053013.4(ENO3):c.667+19G>C
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.699G>T (p.Ala233=)
NM_053013.4(ENO3):c.6C>T (p.Ala2=)
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.771C>T (p.Tyr257=)
NM_053013.4(ENO3):c.788_789insATC (p.Ser263dup) rs548538086
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.85+14C>T
NM_053013.4(ENO3):c.85+15A>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.87C>A (p.Gly29=) rs771319383
NM_053013.4(ENO3):c.87C>T (p.Gly29=)
NM_053013.4(ENO3):c.915C>G (p.Thr305=)
NM_053013.4(ENO3):c.915C>T (p.Thr305=) rs565982583
NM_053013.4(ENO3):c.930G>A (p.Gly310=)
NM_053013.4(ENO3):c.969C>T (p.Thr323=)
NM_053013.4(ENO3):c.99A>T (p.Ala33=)

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