ClinVar Miner

List of variants in gene TJP2 reported as pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004817.4(TJP2):c.1771C>T (p.Arg591Ter) rs764379398 0.00003
NM_004817.4(TJP2):c.2546del (p.Thr849fs) rs1309543056 0.00001
NM_004817.4(TJP2):c.1438_1454del (p.Gln480fs) rs1829487527
NM_004817.4(TJP2):c.1451del (p.Pro484fs) rs1554662952
NM_004817.4(TJP2):c.1697T>A (p.Leu566Ter) rs886042381
NM_004817.4(TJP2):c.1780+1G>T rs1554664852
NM_004817.4(TJP2):c.1880del (p.Arg627fs)
NM_004817.4(TJP2):c.1885dup (p.Glu629fs) rs1830170589
NM_004817.4(TJP2):c.1992-2A>G rs587777521
NM_004817.4(TJP2):c.2353C>T (p.Gln785Ter) rs1563948951
NM_004817.4(TJP2):c.2509C>T (p.Arg837Ter) rs746830415
NM_004817.4(TJP2):c.2524C>T (p.Gln842Ter) rs1830481830
NM_004817.4(TJP2):c.2869C>T (p.Gln957Ter)
NM_004817.4(TJP2):c.2885del (p.Ile962fs)
NM_004817.4(TJP2):c.3325G>T (p.Glu1109Ter) rs1225374015
NM_004817.4(TJP2):c.464_473del (p.Gly154_Tyr155insTer) rs2133270267
NM_004817.4(TJP2):c.498dup (p.Arg167fs) rs781334233
NM_004817.4(TJP2):c.4_11dup (p.Gly5fs)
NM_004817.4(TJP2):c.570_574dup (p.Ser192fs) rs886041948
NM_004817.4(TJP2):c.619C>T (p.Gln207Ter)
NM_004817.4(TJP2):c.637C>T (p.Arg213Ter)
NM_004817.4(TJP2):c.766_769del (p.Ala256fs) rs587777518
NM_004817.4(TJP2):c.766del (p.Ala256fs)
NM_004817.4(TJP2):c.782del (p.Tyr261fs) rs771690686
NM_004817.4(TJP2):c.817del (p.Ala273fs) rs864321697
NM_004817.4(TJP2):c.84dup (p.Trp29fs) rs1563915664

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.