ClinVar Miner

Variants with conflicting interpretations "established risk allele" and "benign"

Submission 1 (established risk allele) minimum review status: Submission 1 (established risk allele) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
ClinVar version:

Total variants with conflicting interpretations: 3

HGVS dbSNP gnomAD frequency
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466 0.04126
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs) rs2066847

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.