List of variants in gene LOC130004599, NFKB2 studied for Immunodeficiency, common variable, 10

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 85

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001322934.2(NFKB2):c.1269A>G (p.Pro423=)	rs4919633	0.98899
NM_001322934.2(NFKB2):c.1269= (p.Pro423=)	rs4919633	0.01101
NM_001322934.2(NFKB2):c.1212G>T (p.Gly404=)	rs55847683	0.00399
NM_001322934.2(NFKB2):c.1288C>T (p.Pro430Ser)	rs202001697	0.00125
NM_001322934.2(NFKB2):c.1296C>T (p.Cys432=)	rs192635220	0.00052
NM_001322934.2(NFKB2):c.1327+10C>A	rs1424353029	0.00006
NM_001322934.2(NFKB2):c.1327+11C>G	rs1166784114	0.00006
NM_001322934.2(NFKB2):c.1258G>A (p.Ala420Thr)	rs1288456438	0.00004
NM_001322934.2(NFKB2):c.1327+15G>A	rs776988623	0.00004
NM_001322934.2(NFKB2):c.1340A>G (p.Asn447Ser)	rs1209220432	0.00004
NM_001322934.2(NFKB2):c.1137C>T (p.Phe379=)	rs920445238	0.00003
NM_001322934.2(NFKB2):c.1184T>C (p.Met395Thr)	rs749068539	0.00002
NM_001322934.2(NFKB2):c.1262C>T (p.Ala421Val)	rs780831146	0.00002
NM_001322934.2(NFKB2):c.1327+18C>T	rs896927010	0.00002
NM_001322934.2(NFKB2):c.1134C>T (p.Phe378=)	rs11574847	0.00001
NM_001322934.2(NFKB2):c.1242G>A (p.Arg414=)	rs555513845	0.00001
NM_001322934.2(NFKB2):c.1248C>T (p.Ser416=)	rs755308165	0.00001
NM_001322934.2(NFKB2):c.1266G>A (p.Glu422=)	rs1210800591	0.00001
NM_001322934.2(NFKB2):c.1286C>T (p.Thr429Ile)	rs1458287262	0.00001
NM_001322934.2(NFKB2):c.1301C>T (p.Pro434Leu)	rs1024428958	0.00001
NM_001322934.2(NFKB2):c.1311G>A (p.Pro437=)	rs760745461	0.00001
NM_001322934.2(NFKB2):c.1323G>T (p.Gln441His)	rs1175561541	0.00001
NM_001322934.2(NFKB2):c.1328-14T>C	rs545097074	0.00001
NM_001322934.2(NFKB2):c.1120G>A (p.Gly374Ser)	rs2135434538
NM_001322934.2(NFKB2):c.1137C>A (p.Phe379Leu)	rs920445238
NM_001322934.2(NFKB2):c.1138C>T (p.Pro380Ser)	rs1430785222
NM_001322934.2(NFKB2):c.1154A>G (p.Tyr385Cys)	rs2135434659
NM_001322934.2(NFKB2):c.1161C>T (p.Pro387=)
NM_001322934.2(NFKB2):c.1163A>G (p.Tyr388Cys)	rs758025082
NM_001322934.2(NFKB2):c.1167G>C (p.Gln389His)
NM_001322934.2(NFKB2):c.1170C>A (p.Ser390=)	rs1200632324
NM_001322934.2(NFKB2):c.1170C>T (p.Ser390=)
NM_001322934.2(NFKB2):c.1179C>G (p.Gly393=)	rs1450555490
NM_001322934.2(NFKB2):c.1182C>A (p.Pro394=)
NM_001322934.2(NFKB2):c.1183A>C (p.Met395Leu)	rs1461691110
NM_001322934.2(NFKB2):c.1183A>T (p.Met395Leu)
NM_001322934.2(NFKB2):c.1192T>C (p.Tyr398His)
NM_001322934.2(NFKB2):c.1196C>T (p.Pro399Leu)
NM_001322934.2(NFKB2):c.1202G>A (p.Gly401Asp)
NM_001322934.2(NFKB2):c.1210G>A (p.Gly404Arg)	rs1257376973
NM_001322934.2(NFKB2):c.1214C>A (p.Ala405Glu)	rs773329863
NM_001322934.2(NFKB2):c.1214C>T (p.Ala405Val)	rs773329863
NM_001322934.2(NFKB2):c.1218G>A (p.Gln406=)
NM_001322934.2(NFKB2):c.1219A>G (p.Met407Val)
NM_001322934.2(NFKB2):c.1225G>C (p.Ala409Pro)
NM_001322934.2(NFKB2):c.1225G>T (p.Ala409Ser)
NM_001322934.2(NFKB2):c.1229C>T (p.Thr410Met)	rs1175800328
NM_001322934.2(NFKB2):c.1230G>A (p.Thr410=)	rs2135434966
NM_001322934.2(NFKB2):c.1239C>G (p.Ser413Arg)
NM_001322934.2(NFKB2):c.1241G>A (p.Arg414Lys)
NM_001322934.2(NFKB2):c.1242G>C (p.Arg414Ser)	rs555513845
NM_001322934.2(NFKB2):c.1251G>A (p.Gly417=)
NM_001322934.2(NFKB2):c.1267C>T (p.Pro423Ser)	rs756080515
NM_001322934.2(NFKB2):c.1283G>A (p.Arg428Lys)
NM_001322934.2(NFKB2):c.1285A>G (p.Thr429Ala)
NM_001322934.2(NFKB2):c.1285A>T (p.Thr429Ser)	rs1405716353
NM_001322934.2(NFKB2):c.1286C>A (p.Thr429Asn)
NM_001322934.2(NFKB2):c.1287C>T (p.Thr429=)
NM_001322934.2(NFKB2):c.1289C>T (p.Pro430Leu)
NM_001322934.2(NFKB2):c.1297G>C (p.Glu433Gln)	rs2061182778
NM_001322934.2(NFKB2):c.1303C>A (p.Gln435Lys)
NM_001322934.2(NFKB2):c.1305G>A (p.Gln435=)	rs1267627355
NM_001322934.2(NFKB2):c.1306G>A (p.Ala436Thr)
NM_001322934.2(NFKB2):c.1306G>T (p.Ala436Ser)	rs2135435274
NM_001322934.2(NFKB2):c.1308C>T (p.Ala436=)
NM_001322934.2(NFKB2):c.1310C>T (p.Pro437Leu)	rs2061183432
NM_001322934.2(NFKB2):c.1318C>T (p.Leu440=)
NM_001322934.2(NFKB2):c.1325G>A (p.Arg442Gln)
NM_001322934.2(NFKB2):c.1327+10C>T	rs1424353029
NM_001322934.2(NFKB2):c.1327+11C>T
NM_001322934.2(NFKB2):c.1327+1G>A
NM_001322934.2(NFKB2):c.1327+20G>A
NM_001322934.2(NFKB2):c.1327+4T>C	rs2135435340
NM_001322934.2(NFKB2):c.1328-11G>A
NM_001322934.2(NFKB2):c.1328-12T>C
NM_001322934.2(NFKB2):c.1328-13C>T
NM_001322934.2(NFKB2):c.1328-13_1328-12del
NM_001322934.2(NFKB2):c.1328-4G>T
NM_001322934.2(NFKB2):c.1328-5dup	rs2135435592
NM_001322934.2(NFKB2):c.1328-7C>T
NM_001322934.2(NFKB2):c.1331G>A (p.Arg444Gln)	rs1312906894
NM_001322934.2(NFKB2):c.1341C>G (p.Asn447Lys)
NM_001322934.2(NFKB2):c.1343C>T (p.Ala448Val)
NM_001322934.2(NFKB2):c.1345C>G (p.Arg449Gly)
NM_001322934.2(NFKB2):c.1348C>T (p.Leu450=)

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.