List of variants in gene NFKBIA reported as likely benign for immune system disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 88

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_020529.3(NFKBIA):c.142_143dup	rs11569610	0.02180
NM_020529.3(NFKBIA):c.548-3C>T	rs2233418	0.00648
NM_020529.3(NFKBIA):c.791G>A (p.Arg264Gln)	rs149917774	0.00120
NM_020529.3(NFKBIA):c.336+16G>C	rs2233414	0.00030
NM_020529.3(NFKBIA):c.156C>A (p.Ile52=)	rs369801548	0.00006
NM_020529.3(NFKBIA):c.186C>T (p.Gly62=)	rs143798499	0.00006
NM_020529.3(NFKBIA):c.501C>T (p.Cys167=)	rs200219960	0.00006
NM_020529.3(NFKBIA):c.547+18C>T	rs373886679	0.00005
NM_020529.3(NFKBIA):c.885_896del (p.Phe295_Thr299delinsLeu)	rs751513869	0.00004
NM_020529.3(NFKBIA):c.888G>A (p.Thr296=)	rs139180460	0.00004
NM_020529.3(NFKBIA):c.547+10C>T	rs201614038	0.00003
NM_020529.3(NFKBIA):c.627C>T (p.Val209=)	rs778172206	0.00003
NM_020529.3(NFKBIA):c.876G>A (p.Glu292=)	rs772607545	0.00003
NM_020529.3(NFKBIA):c.336+19C>T	rs749325392	0.00002
NM_020529.3(NFKBIA):c.465C>T (p.Gly155=)	rs763183892	0.00002
NM_020529.3(NFKBIA):c.549C>T (p.Gly183=)	rs769491611	0.00002
NM_020529.3(NFKBIA):c.636+19C>T	rs759618202	0.00002
NM_020529.3(NFKBIA):c.907-9T>G	rs781071814	0.00002
NM_020529.3(NFKBIA):c.219C>T (p.Asp73=)	rs371348054	0.00001
NM_020529.3(NFKBIA):c.228-15C>T	rs752721097	0.00001
NM_020529.3(NFKBIA):c.228-8C>G	rs774048454	0.00001
NM_020529.3(NFKBIA):c.228-9T>C	rs539761554	0.00001
NM_020529.3(NFKBIA):c.265C>T (p.Leu89=)	rs201058640	0.00001
NM_020529.3(NFKBIA):c.297A>C (p.Gly99=)	rs757465465	0.00001
NM_020529.3(NFKBIA):c.336+11T>G	rs1446919427	0.00001
NM_020529.3(NFKBIA):c.504C>T (p.Thr168=)	rs768764676	0.00001
NM_020529.3(NFKBIA):c.510G>A (p.Pro170=)	rs748972316	0.00001
NM_020529.3(NFKBIA):c.539A>C (p.Asn180Thr)	rs376763952	0.00001
NM_020529.3(NFKBIA):c.753T>C (p.Tyr251=)	rs773665307	0.00001
NM_020529.3(NFKBIA):c.783A>C (p.Pro261=)	rs376370831	0.00001
NM_020529.3(NFKBIA):c.847A>T (p.Ser283Cys)	rs989569540	0.00001
NM_020529.3(NFKBIA):c.894C>T (p.Phe298=)	rs777020702	0.00001
NM_020529.3(NFKBIA):c.906+19T>C	rs1262400830	0.00001
NM_020529.3(NFKBIA):c.936C>T (p.Gly312=)	rs1250939805	0.00001
NM_020529.3(NFKBIA):c.948G>A (p.Thr316=)	rs772630322	0.00001
NM_020529.3(NFKBIA):c.129G>A (p.Glu43=)	rs2052768071
NM_020529.3(NFKBIA):c.145C>T (p.Leu49=)
NM_020529.3(NFKBIA):c.186C>A (p.Gly62=)	rs143798499
NM_020529.3(NFKBIA):c.192G>A (p.Glu64=)
NM_020529.3(NFKBIA):c.216G>A (p.Glu72=)	rs1025896637
NM_020529.3(NFKBIA):c.221G>C (p.Gly74Ala)	rs763076696
NM_020529.3(NFKBIA):c.222G>A (p.Gly74=)
NM_020529.3(NFKBIA):c.228-8C>A
NM_020529.3(NFKBIA):c.240G>A (p.Leu80=)	rs2138832918
NM_020529.3(NFKBIA):c.252T>C (p.His84=)
NM_020529.3(NFKBIA):c.270C>T (p.Thr90=)	rs780297815
NM_020529.3(NFKBIA):c.282C>T (p.Ile94=)
NM_020529.3(NFKBIA):c.328C>T (p.Leu110=)	rs776007975
NM_020529.3(NFKBIA):c.336+12G>T
NM_020529.3(NFKBIA):c.336+18C>T
NM_020529.3(NFKBIA):c.336+7C>T
NM_020529.3(NFKBIA):c.336+9C>T
NM_020529.3(NFKBIA):c.477C>T (p.Ser159=)	rs199877737
NM_020529.3(NFKBIA):c.487C>T (p.Leu163=)	rs2052747548
NM_020529.3(NFKBIA):c.526C>T (p.Leu176=)
NM_020529.3(NFKBIA):c.547+11C>T
NM_020529.3(NFKBIA):c.547+9G>A	rs758955844
NM_020529.3(NFKBIA):c.548-17T>C	rs2138831292
NM_020529.3(NFKBIA):c.548-5T>C	rs2138831281
NM_020529.3(NFKBIA):c.555G>A (p.Thr185=)
NM_020529.3(NFKBIA):c.565T>C (p.Leu189=)
NM_020529.3(NFKBIA):c.570C>T (p.Ala190=)
NM_020529.3(NFKBIA):c.585C>T (p.Tyr195=)	rs1300120545
NM_020529.3(NFKBIA):c.594C>T (p.Ile198=)
NM_020529.3(NFKBIA):c.612C>T (p.Ser204=)
NM_020529.3(NFKBIA):c.636+15C>T
NM_020529.3(NFKBIA):c.636+20G>A	rs368603759
NM_020529.3(NFKBIA):c.637-14C>T
NM_020529.3(NFKBIA):c.660C>T (p.Ala220=)
NM_020529.3(NFKBIA):c.669C>T (p.Leu223=)	rs143869405
NM_020529.3(NFKBIA):c.672A>C (p.Ala224=)
NM_020529.3(NFKBIA):c.685A>G (p.Asn229Asp)
NM_020529.3(NFKBIA):c.705C>T (p.Leu235=)	rs760478586
NM_020529.3(NFKBIA):c.720G>A (p.Gly240=)
NM_020529.3(NFKBIA):c.732C>T (p.Asn244=)
NM_020529.3(NFKBIA):c.741C>G (p.Thr247=)
NM_020529.3(NFKBIA):c.750C>G (p.Gly250=)
NM_020529.3(NFKBIA):c.792G>A (p.Arg264=)	rs2138830550
NM_020529.3(NFKBIA):c.792G>C (p.Arg264=)
NM_020529.3(NFKBIA):c.822A>G (p.Leu274=)
NM_020529.3(NFKBIA):c.861G>A (p.Glu287=)
NM_020529.3(NFKBIA):c.862A>G (p.Ser288Gly)
NM_020529.3(NFKBIA):c.906+16C>A	rs1019323420
NM_020529.3(NFKBIA):c.907-6T>C
NM_020529.3(NFKBIA):c.912C>A (p.Pro304=)
NM_020529.3(NFKBIA):c.912C>G (p.Pro304=)
NM_020529.3(NFKBIA):c.927G>C (p.Val309=)
NM_020529.3(NFKBIA):c.940C>T (p.Arg314Cys)	rs753419932

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.