ClinVar Miner

List of variants in gene PRKAG2 reported as benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_016203.4(PRKAG2):c.114+13034A>G rs4726104 0.49619
NM_016203.4(PRKAG2):c.-26C>T rs66628686 0.14343
NM_016203.4(PRKAG2):c.114+12C>T rs77902041 0.04935
NM_016203.4(PRKAG2):c.1623T>C (p.Ile541=) rs28763998 0.03936
NM_016203.4(PRKAG2):c.59G>T (p.Ser20Ile) rs116605521 0.02188
NM_016203.4(PRKAG2):c.207G>A (p.Pro69=) rs144384573 0.00538
NM_016203.4(PRKAG2):c.639C>T (p.Thr213=) rs140001300 0.00493
NM_016203.4(PRKAG2):c.1234-317T>G rs141541040 0.00473
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.1098A>G (p.Pro366=) rs116541276 0.00169
NM_016203.4(PRKAG2):c.1704G>A (p.Thr568=) rs138167675 0.00150
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.1106+9G>C rs200429988 0.00055
NM_016203.4(PRKAG2):c.240C>A (p.Gly80=) rs142482217 0.00010
NM_016203.4(PRKAG2):c.531G>T (p.Leu177=) rs373000537 0.00001
NM_016203.4(PRKAG2):c.56G>A (p.Gly19Glu) rs368522976 0.00001
NM_016203.4(PRKAG2):c.67A>C (p.Lys23Gln) rs780864954 0.00001
NM_016203.4(PRKAG2):c.68A>G (p.Lys23Arg) rs1280299073 0.00001
NM_016203.4(PRKAG2):c.1006-9del rs775574266
NM_016203.4(PRKAG2):c.1006-9dup rs775574266
NM_016203.4(PRKAG2):c.1106+10dup rs374874465
NM_016203.4(PRKAG2):c.1106+19del rs374874465
NM_016203.4(PRKAG2):c.289A>G (p.Thr97Ala)
NM_016203.4(PRKAG2):c.810T>C (p.Cys270=) rs61752000

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.