ClinVar Miner

List of variants in gene NFKB1 studied for Immunodeficiency, common variable, 12

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 52
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003998.4(NFKB1):c.1143T>C (p.Ala381=) rs1609993 0.94257
NM_003998.4(NFKB1):c.1755G>A (p.Thr585=) rs4648093 0.02322
NM_003998.4(NFKB1):c.1519A>G (p.Met507Val) rs4648072 0.01884
NM_003998.4(NFKB1):c.1050C>T (p.Tyr350=) rs4648039 0.01547
NM_003998.4(NFKB1):c.1845G>T (p.Leu615Phe) rs149211506 0.00208
NM_003998.4(NFKB1):c.1601G>A (p.Arg534His) rs150281816 0.00046
NM_003998.4(NFKB1):c.1004G>A (p.Arg335Gln) rs143817570 0.00015
NM_003998.4(NFKB1):c.1126G>A (p.Gly376Ser) rs150233754 0.00011
NM_003998.4(NFKB1):c.1948G>A (p.Gly650Arg) rs375088091 0.00007
NM_003998.4(NFKB1):c.482C>T (p.Ala161Val) rs1354534120 0.00001
NM_003998.4(NFKB1):c.671G>A (p.Ser224Asn) rs778125529 0.00001
NM_003998.4(NFKB1):c.1012del (p.Ser338fs) rs2149192665
NM_003998.4(NFKB1):c.1075G>T (p.Glu359Ter)
NM_003998.4(NFKB1):c.1210+16T>C rs4648050
NM_003998.4(NFKB1):c.1210+1G>A rs2149203552
NM_003998.4(NFKB1):c.139del (p.Ile47fs) rs2149123423
NM_003998.4(NFKB1):c.1539_1543del (p.His513fs) rs1578811073
NM_003998.4(NFKB1):c.159+1G>A rs1741461840
NM_003998.4(NFKB1):c.169C>T (p.Arg57Cys) rs1040399901
NM_003998.4(NFKB1):c.1753-1G>T
NM_003998.4(NFKB1):c.1870G>A (p.Ala624Thr)
NM_003998.4(NFKB1):c.1976C>T (p.Ala659Val) rs969568429
NM_003998.4(NFKB1):c.2027C>T (p.Ala676Val) rs1727845506
NM_003998.4(NFKB1):c.2227+18C>T rs375361337
NM_003998.4(NFKB1):c.2227+1G>A rs2149222635
NM_003998.4(NFKB1):c.2240del (p.Leu747fs)
NM_003998.4(NFKB1):c.2279C>G (p.Ser760Cys) rs2149227862
NM_003998.4(NFKB1):c.2353-1G>A
NM_003998.4(NFKB1):c.2394T>G (p.Phe798Leu)
NM_003998.4(NFKB1):c.2460G>C (p.Leu820=) rs4648109
NM_003998.4(NFKB1):c.2588A>G (p.Tyr863Cys)
NM_003998.4(NFKB1):c.2593-22C>G rs3817685
NM_003998.4(NFKB1):c.260T>G (p.Ile87Ser) rs1578771120
NM_003998.4(NFKB1):c.2671del (p.Ala891fs) rs1728635624
NM_003998.4(NFKB1):c.2745A>G (p.Gln915=) rs2149232815
NM_003998.4(NFKB1):c.2818A>C (p.Thr940Pro)
NM_003998.4(NFKB1):c.317dup (p.Asn106fs) rs1560679469
NM_003998.4(NFKB1):c.407+1G>A rs1723945421
NM_003998.4(NFKB1):c.407+2T>G rs2149168346
NM_003998.4(NFKB1):c.418_427del (p.Leu140fs) rs1724867456
NM_003998.4(NFKB1):c.465dup (p.Ala156fs) rs869320754
NM_003998.4(NFKB1):c.469C>T (p.Arg157Ter) rs2149181831
NM_003998.4(NFKB1):c.522_525dup (p.Leu176Ter) rs1724875502
NM_003998.4(NFKB1):c.724G>C (p.Asp242His) rs2149184850
NM_003998.4(NFKB1):c.730+4A>G rs869320688
NM_003998.4(NFKB1):c.731A>G (p.Lys244Arg) rs2149187183
NM_003998.4(NFKB1):c.835+2T>G rs869320689
NM_003998.4(NFKB1):c.850C>T (p.Arg284Ter) rs1578793312
NM_003998.4(NFKB1):c.904dup (p.Ser302fs) rs773694113
NM_003998.4(NFKB1):c.927+2T>C
NM_003998.4(NFKB1):c.988G>A (p.Val330Met) rs2149192634
NM_003998.4:c.(927+1_928-1)_(1066+1_1067-1)del

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.