ClinVar Miner

List of variants in gene PRRT2 reported as pathogenic by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP
NM_145239.3(PRRT2):c.291del (p.Asn98fs) rs730882073
NM_145239.3(PRRT2):c.487C>T (p.Gln163Ter) rs387907127
NM_145239.3(PRRT2):c.514_517del (p.Ser172fs) rs730882065
NM_145239.3(PRRT2):c.516dup (p.Glu173Ter) rs730882068
NM_145239.3(PRRT2):c.562C>T (p.Gln188Ter) rs397514578
NM_145239.3(PRRT2):c.629del (p.Pro210fs) rs730882067
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.650del (p.Arg217fs) rs730882124
NM_145239.3(PRRT2):c.718C>T (p.Arg240Ter) rs387907126
NM_145239.3(PRRT2):c.748C>T (p.Gln250Ter) rs397514579
NM_145239.3(PRRT2):c.796C>T (p.Arg266Trp) rs387907128
NM_145239.3(PRRT2):c.879+5G>A rs1596893185
NM_145239.3(PRRT2):c.950G>A (p.Ser317Asn) rs387907125
NM_145239.3(PRRT2):c.972del (p.Val325fs) rs730882066

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.