ClinVar Miner

Variants in gene combination PRSS1, TRB with conflicting interpretations reported as "uncertain significance and "benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002769.5(PRSS1):c.592-24C>T rs192452846 0.00354
NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala) rs189270875 0.00024
NM_002769.5(PRSS1):c.508A>G (p.Lys170Glu) rs201550522 0.00006
NM_002769.5(PRSS1):c.166C>T (p.Gln56Ter) rs147366981
NM_002769.5(PRSS1):c.200+1G>A rs143909348
NM_002769.5(PRSS1):c.202C>T (p.Arg68Cys) rs145867820
NM_002769.5(PRSS1):c.40C>G (p.Leu14Val) rs747228052

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.