ClinVar Miner

List of variants in gene POR studied 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: 13
Download table as spreadsheet
NM_000941.3(POR):c.1363del (p.Gln455fs) rs781805159
NM_000941.3(POR):c.1370G>A (p.Arg457His) rs28931608
NM_000941.3(POR):c.1384G>C (p.Ala462Pro) rs72557936
NM_000941.3(POR):c.1571_1619dup (p.Ala541fs) rs1563435458
NM_000941.3(POR):c.1615G>A (p.Gly539Arg) rs121912976
NM_000941.3(POR):c.1660C>T (p.Arg554Ter) rs782336856
NM_000941.3(POR):c.1706G>A (p.Cys569Tyr) rs28931607
NM_000941.3(POR):c.1822G>T (p.Val608Phe) rs72552772
NM_000941.3(POR):c.188+2T>C rs936203749
NM_000941.3(POR):c.214T>C (p.Phe72Leu) rs782107314
NM_000941.3(POR):c.513C>G (p.Phe171Leu) rs372715546
NM_000941.3(POR):c.541T>G (p.Tyr181Asp) rs72552771
NM_000941.3(POR):c.859G>C (p.Ala287Pro) rs121912974

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.