ClinVar Miner

Variants with conflicting interpretations "protective" and "uncertain significance"

Submission 1 (protective) minimum review status: Submission 1 (protective) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
ClinVar version:

Total variants with conflicting interpretations: 5

HGVS dbSNP gnomAD frequency
NM_000129.4(F13A1):c.103G>T (p.Val35Leu) rs5985 0.22002
NM_005912.3(MC4R):c.307G>A (p.Val103Ile) rs2229616 0.01533
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) rs52820871 0.00774
NM_000875.5(IGF1R):c.1532G>A (p.Arg511Gln) rs33958176 0.00176
Single allele

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.