ClinVar Miner

List of variants in gene TJP2 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004817.4(TJP2):c.185C>T (p.Thr62Met) rs138241615 0.00168
NM_004817.4(TJP2):c.61-6A>T rs200415824 0.00145
NM_004817.4(TJP2):c.1877C>G (p.Thr626Ser) rs149911553 0.00110
NM_004817.4(TJP2):c.2034C>T (p.Asn678=) rs373160031 0.00007
NM_004817.4(TJP2):c.212C>T (p.Pro71Leu) rs142847960 0.00007
NM_004817.4(TJP2):c.2493G>A (p.Thr831=) rs944668173 0.00003
NM_004817.4(TJP2):c.1884G>A (p.Gly628=) rs1327034450 0.00001
NM_004817.4(TJP2):c.343-4A>G rs779815648 0.00001
NM_004817.4(TJP2):c.2027G>C (p.Arg676Thr)
NM_004817.4(TJP2):c.2450C>G (p.Ser817Cys) rs1554666481
NM_004817.4(TJP2):c.3140G>A (p.Arg1047Gln) rs191327525
NM_004817.4(TJP2):c.3277A>G (p.Arg1093Gly)
NM_004817.4(TJP2):c.599G>T (p.Ser200Ile) rs373944275
NM_004817.4(TJP2):c.716G>A (p.Arg239His)

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.