ClinVar Miner

List of variants studied for Glycogen storage disease due to muscle beta-enolase deficiency by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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_053013.3(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.86-10C>T rs201571802 0.00174
NM_053013.4(ENO3):c.417G>A (p.Gly139=) rs142390642 0.00133
NM_053013.4(ENO3):c.226G>C (p.Ala76Pro) rs143945974 0.00076
NM_053013.4(ENO3):c.249C>T (p.Ser83=) rs145859308 0.00016
NM_053013.4(ENO3):c.1235+7C>T rs759839410 0.00007
NM_053013.4(ENO3):c.1208G>A (p.Arg403His) rs561474067 0.00006
NM_053013.4(ENO3):c.11A>C (p.Gln4Pro) rs138211167 0.00004
NM_053013.4(ENO3):c.1047G>A (p.Ser349=) rs527864393 0.00003
NM_053013.4(ENO3):c.774T>G (p.Asp258Glu) rs763327091 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.363G>A (p.Ala121=) rs201872558 0.00001
NM_053013.4(ENO3):c.785A>G (p.Lys262Arg) rs886053166 0.00001
NM_053013.4(ENO3):c.1097G>A (p.Gly366Glu) rs1971740543
NM_053013.4(ENO3):c.326A>G (p.Asn109Ser) rs143749502
NM_053013.4(ENO3):c.452A>G (p.Asn151Ser) rs560867570
NM_053013.4(ENO3):c.77C>A (p.Thr26Lys) 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.834del (p.Glu278fs) rs779920188
NM_053013.4(ENO3):c.86-3del rs151153333

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.