ClinVar Miner

Variants in gene TPP1 with conflicting interpretations "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: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000391.4(TPP1):c.840G>C (p.Leu280=) rs140349036 0.00257
NM_000391.4(TPP1):c.293C>T (p.Thr98Met) rs140726254 0.00209
NM_000391.3(TPP1):c.-40T>C rs200184958 0.00053
NM_000391.4(TPP1):c.796C>T (p.Arg266Trp) rs200138397 0.00018
NM_000391.4(TPP1):c.228C>T (p.Tyr76=) rs373318861 0.00004
NM_000391.4(TPP1):c.1552-9C>T rs369699167 0.00002
NM_000391.4(TPP1):c.65G>T (p.Ser22Ile) rs202025584
NM_000391.4(TPP1):c.687+20C>T rs569432039
NM_000391.4(TPP1):c.887-6del rs35039601

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.