ClinVar Miner

List of variants in gene PRRT2 reported as pathogenic by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
Download table as spreadsheet
NM_145239.3(PRRT2):c.173del (p.Pro58fs) rs796052940
NM_145239.3(PRRT2):c.191_207dup (p.Glu70fs) rs886041735
NM_145239.3(PRRT2):c.210_211del (p.Glu70fs) rs886041579
NM_145239.3(PRRT2):c.215_216del (p.Thr72fs) rs796052943
NM_145239.3(PRRT2):c.323_324del (p.Thr108fs) rs886041327
NM_145239.3(PRRT2):c.324_325del (p.Ser110fs) rs886042013
NM_145239.3(PRRT2):c.433dup (p.Arg145fs) rs796052944
NM_145239.3(PRRT2):c.604_607del (p.Ser202fs) rs1064793851
NM_145239.3(PRRT2):c.629dup (p.Ala211fs) rs730882067
NM_145239.3(PRRT2):c.649del (p.Arg217fs) rs587778771
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_145239.3(PRRT2):c.718C>T (p.Arg240Ter) rs387907126
NM_145239.3(PRRT2):c.769_778del (p.Glu257fs) rs886041960

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.