ClinVar Miner

List of variants in gene PAX6 reported as likely benign for abdominal and pelvic region disorder

Included ClinVar conditions (956):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
NM_000280.4(PAX6):c.-107C>T rs111270711
NM_000280.4(PAX6):c.-129+9G>A rs56139994
NM_000280.4(PAX6):c.-180A>G rs75563367
NM_000280.4(PAX6):c.-316-8C>G rs566281941
NM_000280.4(PAX6):c.1137A>C (p.Thr379=) rs143477661
NM_000280.4(PAX6):c.327G>A (p.Glu109=) rs114384476
NM_000280.4(PAX6):c.711G>A (p.Val237=) rs145329506
NM_000280.4(PAX6):c.831G>A (p.Gln277=) rs149053004

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.