ClinVar Miner

List of variants in gene PRRT2 reported as uncertain significance for Episodic kinesigenic dyskinesia 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP
NC_000016.9:g.(?_29824311)_(29827202_?)dup
NM_145239.3(PRRT2):c.173C>G (p.Pro58Arg) rs1567378768
NM_145239.3(PRRT2):c.293A>G (p.Asn98Ser) rs758787026
NM_145239.3(PRRT2):c.415G>A (p.Ala139Thr) rs763634807
NM_145239.3(PRRT2):c.431C>T (p.Pro144Leu) rs1317648011
NM_145239.3(PRRT2):c.485C>T (p.Thr162Ile) rs755440222
NM_145239.3(PRRT2):c.680G>A (p.Arg227Gln) rs200849527
NM_145239.3(PRRT2):c.841T>C (p.Trp281Arg) rs1567380135
NM_145239.3(PRRT2):c.916G>C (p.Ala306Pro) rs727504111
NM_145239.3(PRRT2):c.967G>T (p.Gly323Trp) rs757940549

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.