List of variants studied for TFRC-related combined immunodeficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001128148.3(TFRC):c.687+9A>G	rs480760	0.89339
NM_001128148.3(TFRC):c.1468+25G>T	rs507131	0.79828
NM_001128148.3(TFRC):c.1468+39A>G	rs2239641	0.48268
NM_001128148.3(TFRC):c.424G>A (p.Gly142Ser)	rs3817672	0.42627
NM_001128148.3(TFRC):c.1678-5T>C	rs366268	0.31431
NM_001128148.3(TFRC):c.1678-12G>A	rs419059	0.31409
NM_001128148.3(TFRC):c.1678-4G>A	rs419068	0.31401
NM_001128148.3(TFRC):c.1136A>G (p.Asn379Ser)	rs539830157	0.00017
NM_001128148.3(TFRC):c.2186C>T (p.Thr729Met)	rs202242239	0.00013
NM_001128148.3(TFRC):c.310A>G (p.Thr104Ala)	rs201408488	0.00008
NM_001128148.3(TFRC):c.1181A>G (p.Lys394Arg)	rs1717655314
NM_001128148.3(TFRC):c.1198+1G>T	rs1341988492
NM_001128148.3(TFRC):c.1404+17C>A	rs2239640
NM_001128148.3(TFRC):c.1678-3C>T	rs769019945
NM_001128148.3(TFRC):c.464G>C (p.Arg155Pro)	rs775554571
NM_001128148.3(TFRC):c.58T>C (p.Tyr20His)	rs863225436

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.