ClinVar Miner

List of variants in gene PRRT2 reported as likely pathogenic by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
NM_145239.3(PRRT2):c.577dup (p.Glu193fs) rs1131692000
NM_145239.3(PRRT2):c.593_594del (p.Pro198fs) rs1260966131
NM_145239.3(PRRT2):c.823T>C (p.Ser275Pro) rs1064793238
NM_145239.3(PRRT2):c.85G>T (p.Glu29Ter) rs1555502574
NM_145239.3(PRRT2):c.872C>A (p.Ala291Asp) rs796052936
NM_145239.3(PRRT2):c.922C>T (p.Arg308Cys) rs932713001
NM_145239.3(PRRT2):c.971G>C (p.Gly324Ala) rs796052938
NM_145239.3(PRRT2):c.971del (p.Gly324fs) rs796052941

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.