List of variants in gene PRKAG2 reported as uncertain significance by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 33

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_016203.4(PRKAG2):c.250C>T (p.Arg84Trp)	rs61746358	0.00056
NM_016203.4(PRKAG2):c.946+3A>G	rs376173303	0.00041
NM_016203.4(PRKAG2):c.251G>A (p.Arg84Gln)	rs201953758	0.00036
NM_016203.4(PRKAG2):c.325T>G (p.Ser109Ala)	rs139579816	0.00025
NM_016203.4(PRKAG2):c.521C>T (p.Thr174Met)	rs148056866	0.00021
NM_016203.4(PRKAG2):c.313G>A (p.Val105Met)	rs397517269	0.00020
NM_016203.4(PRKAG2):c.1267C>A (p.Gln423Lys)	rs147349145	0.00012
NM_016203.4(PRKAG2):c.425C>T (p.Thr142Ile)	rs397517270	0.00010
NM_016203.4(PRKAG2):c.130G>A (p.Ala44Thr)	rs144857453	0.00006
NM_016203.4(PRKAG2):c.206C>T (p.Pro69Leu)	rs182750960	0.00006
NM_016203.4(PRKAG2):c.166G>A (p.Gly56Arg)	rs397517266	0.00004
NM_016203.4(PRKAG2):c.346C>T (p.Arg116Cys)	rs730880989	0.00004
NM_016203.4(PRKAG2):c.488C>T (p.Pro163Leu)	rs876657963	0.00004
NM_016203.4(PRKAG2):c.554A>T (p.Glu185Val)	rs397517274	0.00003
NM_016203.4(PRKAG2):c.356G>A (p.Arg119Gln)	rs142808871	0.00002
NM_016203.4(PRKAG2):c.431C>T (p.Pro144Leu)	rs150140412	0.00002
NM_016203.4(PRKAG2):c.1315A>G (p.Ile439Val)	rs370257703	0.00001
NM_016203.4(PRKAG2):c.137C>T (p.Pro46Leu)	rs373477232	0.00001
NM_016203.4(PRKAG2):c.1390G>A (p.Asp464Asn)	rs397517264	0.00001
NM_016203.4(PRKAG2):c.1508A>G (p.Gln503Arg)	rs727504337	0.00001
NM_016203.4(PRKAG2):c.1687C>T (p.Gln563Ter)	rs397517267	0.00001
NM_016203.4(PRKAG2):c.186G>T (p.Lys62Asn)	rs369687307	0.00001
NM_016203.4(PRKAG2):c.428C>T (p.Ser143Leu)	rs397517271	0.00001
NM_016203.4(PRKAG2):c.1006G>A (p.Val336Ile)	rs727504707
NM_016203.4(PRKAG2):c.1148A>G (p.His383Arg)	rs121908988
NM_016203.4(PRKAG2):c.1152A>T (p.Arg384Ser)	rs397517262
NM_016203.4(PRKAG2):c.1212C>G (p.Ile404Met)	rs876657962
NM_016203.4(PRKAG2):c.467-10T>G	rs727503378
NM_016203.4(PRKAG2):c.532G>A (p.Glu178Lys)	rs397517273
NM_016203.4(PRKAG2):c.593dup (p.Asp199fs)	rs397517275
NM_016203.4(PRKAG2):c.620C>G (p.Ser207Cys)	rs397517277
NM_016203.4(PRKAG2):c.826A>G (p.Thr276Ala)	rs727505340
NM_016203.4(PRKAG2):c.865G>A (p.Val289Ile)	rs397517282

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.