ClinVar Miner

List of variants in gene PAX2 reported as uncertain significance 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: 11
Download table as spreadsheet
NM_000278.5(PAX2):c.1049G>C (p.Ser350Thr)
NM_000278.5(PAX2):c.148C>T (p.Arg50Trp)
NM_000278.5(PAX2):c.511T>C (p.Ser171Pro) rs781489326
NM_003990.5(PAX2):c.1090+233A>T rs606231415
NM_003990.5(PAX2):c.1160G>A (p.Ser387Asn) rs138490772
NM_003990.5(PAX2):c.1A>G (p.Met1Val) rs767150408
NM_003990.5(PAX2):c.272C>T (p.Ala91Val)
NM_003990.5(PAX2):c.350G>C (p.Arg117Pro)
NM_003990.5(PAX2):c.460G>A (p.Ala154Thr)
NM_003990.5(PAX2):c.478G>A (p.Ala160Thr) rs201383632
NM_003990.5(PAX2):c.809G>A (p.Arg270His) rs747639879

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.