ClinVar Miner

Variants with conflicting interpretations "association" and "risk factor"

Submission 1 (association) minimum review status: Submission 1 (association) method:
Submission 2 (risk factor) minimum review status: Submission 2 (risk factor) method:
ClinVar version:

Total variants with conflicting interpretations: 8

HGVS dbSNP gnomAD frequency
NM_000777.5(CYP3A5):c.219-237A>G rs776746 0.72319
NM_000446.7(PON1):c.575A>G (p.Gln192Arg) rs662 0.42215
NM_000236.2(LIPC):c.-293G>A rs2070895 0.33491
NM_000446.7(PON1):c.163T>A (p.Leu55Met) rs854560 0.29107
NM_002386.4(MC1R):c.478C>T (p.Arg160Trp) rs1805008 0.04851
NM_002386.4(MC1R):c.451C>T (p.Arg151Cys) rs1805007 0.04832
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116

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.