ClinVar Miner

List of variants in gene PRKAG2 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 33
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_016203.4(PRKAG2):c.1678+121T>A rs117835127 0.00658
NM_016203.4(PRKAG2):c.639C>T (p.Thr213=) rs140001300 0.00493
NM_016203.4(PRKAG2):c.*127C>G rs189787963 0.00397
NM_016203.4(PRKAG2):c.1593G>A (p.Arg531=) rs148197254 0.00374
NM_016203.4(PRKAG2):c.1296G>A (p.Thr432=) rs114079815 0.00280
NM_016203.4(PRKAG2):c.111T>A (p.Ile37=) rs144426409 0.00259
NM_016203.4(PRKAG2):c.*614A>T rs567058170 0.00160
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser) rs79474211 0.00144
NM_016203.4(PRKAG2):c.1584+7C>T rs111627309 0.00086
NM_016203.4(PRKAG2):c.250C>T (p.Arg84Trp) rs61746358 0.00056
NM_016203.4(PRKAG2):c.*135T>C rs184932311 0.00041
NM_016203.4(PRKAG2):c.123C>T (p.Ser41=) rs397517263 0.00019
NM_016203.4(PRKAG2):c.*1030T>G rs867502251 0.00010
NM_016203.4(PRKAG2):c.240C>A (p.Gly80=) rs142482217 0.00010
NM_016203.4(PRKAG2):c.*55C>T rs371637024 0.00006
NM_016203.4(PRKAG2):c.147C>T (p.Asp49=) rs761196275 0.00005
NM_016203.4(PRKAG2):c.1584+8G>A rs762649633 0.00003
NM_016203.4(PRKAG2):c.432C>T (p.Pro144=) rs764742900 0.00002
NM_016203.4(PRKAG2):c.557G>A (p.Arg186Gln) rs145006140 0.00002
NM_016203.4(PRKAG2):c.376A>G (p.Ile126Val) rs1379819489 0.00001
NM_016203.4(PRKAG2):c.393C>T (p.Ser131=) rs1057520352 0.00001
NM_016203.4(PRKAG2):c.418C>T (p.Pro140Ser) rs755782342 0.00001
NM_016203.4(PRKAG2):c.67A>C (p.Lys23Gln) rs780864954 0.00001
NM_016203.4(PRKAG2):c.*399G>A rs112179332
NM_016203.4(PRKAG2):c.*896del rs532079387
NM_016203.4(PRKAG2):c.1052-4A>G rs977597576
NM_016203.4(PRKAG2):c.115-21063C>T
NM_016203.4(PRKAG2):c.1159G>A (p.Val387Ile)
NM_016203.4(PRKAG2):c.471C>T (p.Ser157=) rs141804012
NM_016203.4(PRKAG2):c.536C>A (p.Ser179Tyr)
NM_016203.4(PRKAG2):c.811T>C (p.Tyr271His)
NM_016203.4(PRKAG2):c.912G>A (p.Ala304=) rs145029525
NM_016203.4(PRKAG2):c.912G>T (p.Ala304=) rs145029525

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.