ClinVar Miner

List of variants in gene RFX5 reported as likely pathogenic for MHC class II deficiency

Included ClinVar conditions (2):
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_001025603.2(RFX5):c.117-1G>T
NM_001025603.2(RFX5):c.137dup (p.Glu47fs)
NM_001025603.2(RFX5):c.1706dup (p.Ser571fs) rs763938154
NM_001025603.2(RFX5):c.233+1G>T
NM_001025603.2(RFX5):c.353+2T>G rs1183832067
NM_001025603.2(RFX5):c.473+2T>C
NM_001025603.2(RFX5):c.474-2A>G rs2102065180
NM_001025603.2(RFX5):c.555+1G>C rs367771361
NM_001025603.2(RFX5):c.556-2A>G rs1571260171
NM_001025603.2(RFX5):c.757+1G>A
NM_001025603.2(RFX5):c.859-2A>G

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.