ClinVar Miner

List of variants in gene PAX4 reported by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001366110.1(PAX4):c.986A>C (p.His329Pro) rs712701 0.74681
NM_001366110.1(PAX4):c.543A>G (p.Gln181=) rs327517 0.05634
NM_001366110.1(PAX4):c.474C>T (p.Gly158=) rs77039439 0.04703
NM_001366110.1(PAX4):c.421C>T (p.Arg141Trp) rs2233578 0.02654
NM_001366110.1(PAX4):c.646-7C>T rs11977988 0.00498
NM_001366110.1(PAX4):c.*190C>T rs2233585 0.00426
NM_001366110.1(PAX4):c.599G>A (p.Arg200His) rs2233580 0.00220
NM_001366110.1(PAX4):c.456C>T (p.Val152=) rs61749955 0.00216
NM_001366110.1(PAX4):c.133C>T (p.Arg45Trp) rs35155575 0.00151
NM_001366110.1(PAX4):c.636C>T (p.Asp212=) rs141407429 0.00131
NM_001366110.1(PAX4):c.868T>C (p.Cys290Arg) rs139309837 0.00102
NM_001366110.1(PAX4):c.313C>T (p.Arg105Cys) rs144792551 0.00074
NM_001366110.1(PAX4):c.932C>T (p.Pro311Leu) rs142426878 0.00048
NM_001366110.1(PAX4):c.762C>T (p.Ile254=) rs147670794 0.00024
NM_001366110.1(PAX4):c.1014C>T (p.Ala338=) rs201607054 0.00013
NM_001366110.1(PAX4):c.449C>T (p.Pro150Leu) rs758317971 0.00004
NM_001366110.1(PAX4):c.515G>A (p.Arg172Gln) rs587780414 0.00001
NM_001366110.1(PAX4):c.545C>T (p.Ala182Val) rs1290905638 0.00001
NM_001366110.1(PAX4):c.115C>G (p.Arg39Gly)

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.