ClinVar Miner

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

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 18
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002769.5(PRSS1):c.738T>C (p.Asn246=) rs6667 0.53816
NM_002769.5(PRSS1):c.592-11C>T rs183791770 0.00131
NM_002769.5(PRSS1):c.592-8C>T rs200381474 0.00131
NM_002769.5(PRSS1):c.40+10A>G rs199613498 0.00066
NM_002769.5(PRSS1):c.121C>T (p.Leu41=) rs369646357 0.00034
NM_002769.5(PRSS1):c.417C>T (p.Cys139=) rs141847266 0.00032
NM_002769.5(PRSS1):c.410C>T (p.Thr137Met) rs117497341 0.00024
NM_002769.5(PRSS1):c.40+13C>T rs368872847 0.00016
NM_002769.5(PRSS1):c.390C>T (p.Thr130=) rs561097415 0.00012
NM_002769.5(PRSS1):c.508A>G (p.Lys170Glu) rs201550522 0.00006
NM_002769.4(PRSS1):c.-30_-28delTCC rs386134264
NM_002769.5(PRSS1):c.161A>G (p.Asn54Ser) rs144422014
NM_002769.5(PRSS1):c.200+17C>T rs200688125
NM_002769.5(PRSS1):c.40C>G (p.Leu14Val) rs747228052
NM_002769.5(PRSS1):c.468C>T (p.Asp156=) rs146076691
NM_002769.5(PRSS1):c.486T>C (p.Asp162=) rs6666
NM_002769.5(PRSS1):c.49C>T (p.Pro17Ser) rs770782578
NM_002769.5(PRSS1):c.651T>C (p.Gly217=) rs562372415

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.