ClinVar Miner

List of variants in gene PRKAG2 reported as uncertain significance by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_016203.4(PRKAG2):c.1644G>A (p.Ser548=) rs376450705 0.00009
NM_016203.4(PRKAG2):c.1114G>A (p.Asp372Asn) rs760826751 0.00005
NM_016203.4(PRKAG2):c.617C>T (p.Pro206Leu) rs182084936 0.00004
NM_016203.4(PRKAG2):c.1584+8G>A rs762649633 0.00003
NM_016203.4(PRKAG2):c.106C>T (p.His36Tyr) rs377603922 0.00002
NM_016203.4(PRKAG2):c.137C>T (p.Pro46Leu) rs373477232 0.00001
NM_016203.4(PRKAG2):c.659C>T (p.Pro220Leu) rs200181419 0.00001
NM_016203.4(PRKAG2):c.1024G>A (p.Glu342Lys) rs2151024095
NM_016203.4(PRKAG2):c.1106+15T>G rs193922696
NM_016203.4(PRKAG2):c.1399+8T>C rs750475269
NM_016203.4(PRKAG2):c.477CTC[2] (p.Ser162del) rs1002236859
NM_016203.4(PRKAG2):c.819C>G (p.Ile273Met) rs764244463

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.