ClinVar Miner

Variants with conflicting interpretations "affects" and "likely benign"

Submission 1 (affects) minimum review status: Submission 1 (affects) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
ClinVar version:

Total variants with conflicting interpretations: 7

HGVS dbSNP
NM_000121.3(EPOR):c.1460A>G (p.Asn487Ser) rs62638745
NM_000275.2(OCA2):c.1256G>A (p.Arg419Gln) rs1800407
NM_000275.2(OCA2):c.913C>T (p.Arg305Trp) rs1800401
NM_002386.3(MC1R):c.451C>T (p.Arg151Cys) rs1805007
NM_002386.3(MC1R):c.478C>T (p.Arg160Trp) rs1805008
NM_003465.2(CHIT1):c.304G>A (p.Gly102Ser) rs2297950
UGT1A1*6 rs4148323

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.