ClinVar Miner

List of variants reported as benign for combined immunodeficiency due to OX40 deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003327.4(TNFRSF4):c.534G>A (p.Glu178=) rs17568 0.30283
NM_003327.4(TNFRSF4):c.634+25C>T rs2298212 0.07989
NM_003327.4(TNFRSF4):c.370+14C>T rs35033502 0.02612
NM_003327.4(TNFRSF4):c.297C>T (p.Cys99=) rs34160451 0.01619
NM_003327.4(TNFRSF4):c.804C>T (p.Ala268=) rs35160621 0.00571
NM_003327.4(TNFRSF4):c.764-19C>T rs34945898 0.00554
NM_003327.4(TNFRSF4):c.28C>T (p.Arg10Cys) rs35304565 0.00478
NM_003327.4(TNFRSF4):c.438-44C>T rs376947618 0.00106
NM_003327.4(TNFRSF4):c.222C>T (p.Asp74=) rs541791598 0.00029
NM_003327.4(TNFRSF4):c.618C>T (p.Pro206=) rs569162785 0.00019
NM_003327.4(TNFRSF4):c.146-15C>T rs202012354 0.00018
NM_003327.4(TNFRSF4):c.370+17C>T rs369074008 0.00018
NM_003327.4(TNFRSF4):c.471G>A (p.Pro157=) rs61761334 0.00015
NM_003327.4(TNFRSF4):c.447G>A (p.Leu149=) rs572939257 0.00010
NM_003327.4(TNFRSF4):c.42G>A (p.Ala14=) rs556058356 0.00001
NM_003327.4(TNFRSF4):c.269-18del
NM_003327.4(TNFRSF4):c.269-18dup rs750655851
NM_003327.4(TNFRSF4):c.370+18G>C rs531691331
NM_003327.4(TNFRSF4):c.371-16C>G rs34108055
NM_003327.4(TNFRSF4):c.371-16C>T rs34108055

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.