ClinVar Miner

Variants in gene HNF1A with conflicting interpretations "uncertain significance" and "pathogenic"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 5
Download table as spreadsheet
NM_000545.6(HNF1A):c.1135C>G (p.Pro379Ala) rs754729248
NM_000545.6(HNF1A):c.1592G>C (p.Ser531Thr) rs137853246
NM_000545.6(HNF1A):c.1747C>G (p.Arg583Gly) rs137853239
NM_000545.6(HNF1A):c.92G>A (p.Gly31Asp) rs137853247
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) rs137853242

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.