ClinVar Miner

List of variants in gene TJP2 reported as likely pathogenic for Progressive familial intrahepatic cholestasis 4

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
NM_004817.4(TJP2):c.1210G>A (p.Asp404Asn) rs1060499649
NM_004817.4(TJP2):c.1574T>C (p.Leu525Ser) rs1588117076
NM_004817.4(TJP2):c.2180-5T>G rs1588135086
NM_004817.4(TJP2):c.2327del (p.Arg775_Leu776insTer)
NM_004817.4(TJP2):c.236T>G (p.Leu79Arg) rs1588081022
NM_004817.4(TJP2):c.570_574dup (p.Ser192fs) rs886041948

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.