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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004817.4(TJP2):c.1056+2T>C	rs1278244243	0.00001
NM_004817.4(TJP2):c.1001del (p.Arg334fs)	rs786205659
NM_004817.4(TJP2):c.1320-1G>A
NM_004817.4(TJP2):c.1444del (p.Asp482fs)	rs727503479
NM_004817.4(TJP2):c.2355+1G>T	rs1830381101
NM_004817.4(TJP2):c.2632C>T (p.Gln878Ter)	rs1554667607
NM_004817.4(TJP2):c.2881-2A>G
NM_004817.4(TJP2):c.952+1_952+732del
NM_004817.4(TJP2):c.953-1G>A

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.