ClinVar Miner

List of variants in gene POU3F4 reported as uncertain significance for X-linked disease

Included ClinVar conditions (274):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000307.5(POU3F4):c.*192T>C rs775863791 0.00075
NM_000307.5(POU3F4):c.585A>G (p.Glu195=) rs202020213 0.00011
NM_000307.5(POU3F4):c.530C>T (p.Ser177Leu) rs770657036 0.00003
NM_000307.5(POU3F4):c.*297T>C rs1297004201 0.00002
NM_000307.5(POU3F4):c.442G>C (p.Gly148Arg) rs773169987 0.00002
NM_000307.5(POU3F4):c.914C>T (p.Ala305Val) rs1354177998 0.00001
NM_000307.5(POU3F4):c.*141T>C rs368408951
NM_000307.5(POU3F4):c.*41C>A rs1057516008
NM_000307.5(POU3F4):c.391C>T (p.Leu131Phe) rs1178113212
NM_000307.5(POU3F4):c.845G>A (p.Arg282Gln)
NM_000307.5(POU3F4):c.854T>C (p.Ile285Thr)

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.