ClinVar Miner

List of variants in gene combination AXDND1, NPHS2 reported as pathogenic 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: 9
Download table as spreadsheet
NM_144696.6(AXDND1):c.3032-1848G>A rs869312747
NM_144696.6(AXDND1):c.3032-1891_3032-1890del rs749740335
NM_144696.6(AXDND1):c.3032-1904C>T rs200482683
NM_144696.6(AXDND1):c.3032-1907G>A rs74315348
NM_144696.6(AXDND1):c.3032-21A>T rs775006954
NM_144696.6(AXDND1):c.3032-3135del rs775170915

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.