List of variants in gene LOC129999660, PRKAG2 studied for Cardiomyopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 24

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_016203.4(PRKAG2):c.712G>A (p.Ala238Thr)	rs200736454	0.00051
NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly)	rs201240745	0.00015
NM_016203.4(PRKAG2):c.704T>G (p.Leu235Arg)	rs751094298	0.00005
NM_016203.4(PRKAG2):c.750C>T (p.Asp250=)	rs201735117	0.00004
NM_016203.4(PRKAG2):c.685-5C>A	rs779931367	0.00002
NM_016203.4(PRKAG2):c.685-7C>A	rs397517278	0.00001
NM_016203.4(PRKAG2):c.691C>T (p.Leu231=)	rs745772277	0.00001
NM_016203.4(PRKAG2):c.713C>T (p.Ala238Val)	rs1184637689	0.00001
NM_016203.4(PRKAG2):c.732G>A (p.Glu244=)	rs777165701	0.00001
NM_016203.4(PRKAG2):c.685-19TCC[5]	rs1265462032
NM_016203.4(PRKAG2):c.685-6C>T	rs772481251
NM_016203.4(PRKAG2):c.685-7C>T	rs397517278
NM_016203.4(PRKAG2):c.685-9C>T	rs1824696243
NM_016203.4(PRKAG2):c.687G>A (p.Ala229=)	rs1824684465
NM_016203.4(PRKAG2):c.689C>T (p.Ala230Val)	rs1554507908
NM_016203.4(PRKAG2):c.693G>A (p.Leu231=)	rs931540862
NM_016203.4(PRKAG2):c.695C>T (p.Ala232Val)	rs1338523761
NM_016203.4(PRKAG2):c.703C>T (p.Leu235=)	rs1476121151
NM_016203.4(PRKAG2):c.706G>C (p.Gly236Arg)	rs1183522324
NM_016203.4(PRKAG2):c.720C>G (p.Ala240=)	rs752351250
NM_016203.4(PRKAG2):c.725T>A (p.Met242Lys)	rs2536958468
NM_016203.4(PRKAG2):c.727C>G (p.Leu243Val)	rs543247293
NM_016203.4(PRKAG2):c.751G>T (p.Glu251Ter)	rs796699703
NM_016203.4(PRKAG2):c.754+13dup	rs747490039

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.