ClinVar Miner

List of variants reported as likely benign for Immunodeficiency 39

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 224
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001572.5(IRF7):c.660G>A (p.Leu220=) rs76107421 0.00414
NM_001572.5(IRF7):c.610G>A (p.Asp204Asn) rs41313489 0.00321
NM_001572.5(IRF7):c.1258C>T (p.Arg420Trp) rs143070036 0.00056
NM_001572.5(IRF7):c.760A>G (p.Thr254Ala) rs200579991 0.00034
NM_001572.5(IRF7):c.394+10dup rs753489829 0.00027
NM_001572.5(IRF7):c.750C>T (p.Pro250=) rs202066033 0.00019
NM_001572.5(IRF7):c.767-14C>T rs543923618 0.00018
NM_001572.5(IRF7):c.1383C>T (p.His461=) rs147838432 0.00015
NM_001572.5(IRF7):c.1470C>T (p.Asp490=) rs768723507 0.00013
NM_001572.5(IRF7):c.87G>A (p.Gly29=) rs140293843 0.00013
NM_001572.5(IRF7):c.1017C>T (p.Asp339=) rs766500158 0.00011
NM_001572.5(IRF7):c.679+16G>C rs377027438 0.00011
NM_001572.5(IRF7):c.402A>G (p.Pro134=) rs750744211 0.00009
NM_001572.5(IRF7):c.847+12C>T rs778859679 0.00009
NM_001572.5(IRF7):c.213G>T (p.Pro71=) rs772221788 0.00008
NM_001572.5(IRF7):c.454-13C>T rs751919325 0.00008
NM_001572.5(IRF7):c.1357-16C>T rs774363859 0.00007
NM_001572.5(IRF7):c.453+14T>C rs761605271 0.00006
NM_001572.5(IRF7):c.1238-19G>A rs781763496 0.00004
NM_001572.5(IRF7):c.1476C>T (p.Ile492=) rs755671976 0.00004
NM_001572.5(IRF7):c.150G>A (p.Lys50=) rs530351422 0.00004
NM_001572.5(IRF7):c.180C>T (p.Phe60=) rs772718686 0.00004
NM_001572.5(IRF7):c.204C>A (p.Gly68=) rs777145619 0.00004
NM_001572.5(IRF7):c.237G>A (p.Pro79=) rs763713844 0.00004
NM_001572.5(IRF7):c.807G>A (p.Pro269=) rs375273132 0.00004
NM_001572.5(IRF7):c.597G>A (p.Ala199=) rs147403064 0.00003
NM_001572.5(IRF7):c.767-10C>A rs781721730 0.00003
NM_001572.5(IRF7):c.804G>A (p.Glu268=) rs747550236 0.00003
NM_001572.5(IRF7):c.147C>T (p.Arg49=) rs780592841 0.00002
NM_001572.5(IRF7):c.369G>A (p.Ala123=) rs938089899 0.00002
NM_001572.5(IRF7):c.394+11C>T rs774240915 0.00002
NM_001572.5(IRF7):c.897G>A (p.Thr299=) rs750019396 0.00002
NM_001572.5(IRF7):c.999C>T (p.Ser333=) rs751249139 0.00002
NM_001572.5(IRF7):c.1014G>A (p.Pro338=) rs760052779 0.00001
NM_001572.5(IRF7):c.1080G>A (p.Glu360=) rs766831508 0.00001
NM_001572.5(IRF7):c.1173C>G (p.Thr391=) rs549942229 0.00001
NM_001572.5(IRF7):c.1206C>A (p.Thr402=) rs942117850 0.00001
NM_001572.5(IRF7):c.1212C>T (p.Ile404=) rs746399119 0.00001
NM_001572.5(IRF7):c.1238-7T>A rs752888043 0.00001
NM_001572.5(IRF7):c.1245G>A (p.Val415=) rs767381892 0.00001
NM_001572.5(IRF7):c.1302C>T (p.Phe434=) rs762797158 0.00001
NM_001572.5(IRF7):c.174C>A (p.Arg58=) rs536512192 0.00001
NM_001572.5(IRF7):c.243C>T (p.Pro81=) rs1200946588 0.00001
NM_001572.5(IRF7):c.282C>T (p.Asn94=) rs1180733936 0.00001
NM_001572.5(IRF7):c.336G>A (p.Ser112=) rs962365942 0.00001
NM_001572.5(IRF7):c.360G>A (p.Lys120=) rs756446014 0.00001
NM_001572.5(IRF7):c.378G>A (p.Arg126=) rs1051298659 0.00001
NM_001572.5(IRF7):c.395-7C>G rs1856703290 0.00001
NM_001572.5(IRF7):c.408G>A (p.Thr136=) rs1383019220 0.00001
NM_001572.5(IRF7):c.454-17C>G rs1479429263 0.00001
NM_001572.5(IRF7):c.574C>T (p.Leu192=) rs894537241 0.00001
NM_001572.5(IRF7):c.658C>T (p.Leu220=) rs749760219 0.00001
NM_001572.5(IRF7):c.675T>G (p.Ala225=) rs778587899 0.00001
NM_001572.5(IRF7):c.679+12C>G rs767261753 0.00001
NM_001572.5(IRF7):c.679+15G>A rs761568793 0.00001
NM_001572.5(IRF7):c.680-6C>A rs1856655378 0.00001
NM_001572.5(IRF7):c.777G>A (p.Ala259=) rs772936228 0.00001
NM_001572.5(IRF7):c.847+10T>C rs759030138 0.00001
NM_001572.5(IRF7):c.861G>A (p.Gly287=) rs1025305584 0.00001
NM_001572.5(IRF7):c.939A>C (p.Leu313=) rs764551322 0.00001
NM_001572.5(IRF7):c.984G>A (p.Gln328=) rs1251519354 0.00001
NM_001572.5(IRF7):c.1005C>T (p.Ala335=)
NM_001572.5(IRF7):c.1011C>G (p.Leu337=)
NM_001572.5(IRF7):c.1032C>A (p.Arg344=)
NM_001572.5(IRF7):c.1038G>A (p.Thr346=)
NM_001572.5(IRF7):c.1056C>T (p.His352=) rs753003737
NM_001572.5(IRF7):c.1069T>C (p.Leu357=)
NM_001572.5(IRF7):c.1089G>A (p.Gly363=)
NM_001572.5(IRF7):c.111C>G (p.Arg37=)
NM_001572.5(IRF7):c.111C>T (p.Arg37=)
NM_001572.5(IRF7):c.1122C>T (p.Cys374=)
NM_001572.5(IRF7):c.1146A>G (p.Gly382=) rs1061505
NM_001572.5(IRF7):c.114C>G (p.Thr38=)
NM_001572.5(IRF7):c.1158C>A (p.Ser386=) rs764450622
NM_001572.5(IRF7):c.1158C>T (p.Ser386=) rs764450622
NM_001572.5(IRF7):c.1167C>T (p.Pro389=) rs1247280486
NM_001572.5(IRF7):c.1182C>T (p.Cys394=)
NM_001572.5(IRF7):c.1194G>T (p.Arg398=)
NM_001572.5(IRF7):c.1237+10G>T rs376213301
NM_001572.5(IRF7):c.1237+11C>T
NM_001572.5(IRF7):c.1238-11C>A
NM_001572.5(IRF7):c.1238-14G>A
NM_001572.5(IRF7):c.1238-5T>C
NM_001572.5(IRF7):c.1238-6C>G rs1337814410
NM_001572.5(IRF7):c.126G>A (p.Val42=)
NM_001572.5(IRF7):c.1284T>C (p.Tyr428=)
NM_001572.5(IRF7):c.1308G>A (p.Gln436=) rs945551950
NM_001572.5(IRF7):c.1312C>T (p.Leu438=)
NM_001572.5(IRF7):c.1320T>G (p.Ala440=) rs1302421672
NM_001572.5(IRF7):c.1338G>A (p.Lys446=)
NM_001572.5(IRF7):c.1350G>A (p.Leu450=)
NM_001572.5(IRF7):c.1356+12G>A
NM_001572.5(IRF7):c.1356+16C>T rs1856527141
NM_001572.5(IRF7):c.1356+19G>T
NM_001572.5(IRF7):c.1357-15G>A
NM_001572.5(IRF7):c.1357-75_1357-14del rs1564878871
NM_001572.5(IRF7):c.1357-7C>T
NM_001572.5(IRF7):c.1380G>T (p.Val460=)
NM_001572.5(IRF7):c.1395G>A (p.Thr465=)
NM_001572.5(IRF7):c.1395G>C (p.Thr465=) rs750711497
NM_001572.5(IRF7):c.1410G>A (p.Val470=)
NM_001572.5(IRF7):c.141C>T (p.Phe47=) rs2133150993
NM_001572.5(IRF7):c.1434C>T (p.Leu478=)
NM_001572.5(IRF7):c.1444C>T (p.Leu482=)
NM_001572.5(IRF7):c.144G>A (p.Ala48=) rs1419219496
NM_001572.5(IRF7):c.1452C>T (p.Ser484=)
NM_001572.5(IRF7):c.1476C>A (p.Ile492=) rs755671976
NM_001572.5(IRF7):c.1506C>T (p.Pro502=)
NM_001572.5(IRF7):c.159C>T (p.Ser53=) rs561433488
NM_001572.5(IRF7):c.165C>A (p.Ala55=)
NM_001572.5(IRF7):c.168C>T (p.Asp56=)
NM_001572.5(IRF7):c.183+10C>A rs761513714
NM_001572.5(IRF7):c.183+10C>G rs761513714
NM_001572.5(IRF7):c.183+12A>C
NM_001572.5(IRF7):c.183+14C>T
NM_001572.5(IRF7):c.183+15C>G
NM_001572.5(IRF7):c.183+16C>T
NM_001572.5(IRF7):c.183+19_183+28del rs749444292
NM_001572.5(IRF7):c.183+9C>A rs1554920272
NM_001572.5(IRF7):c.184-10C>T
NM_001572.5(IRF7):c.184-12C>T rs2133149556
NM_001572.5(IRF7):c.184-16C>T
NM_001572.5(IRF7):c.184-4T>G rs12272434
NM_001572.5(IRF7):c.184-6C>G rs1415082315
NM_001572.5(IRF7):c.184-6C>T
NM_001572.5(IRF7):c.184-8C>A
NM_001572.5(IRF7):c.21-2A>C rs2133152087
NM_001572.5(IRF7):c.21-9C>T
NM_001572.5(IRF7):c.213G>A (p.Pro71=) rs772221788
NM_001572.5(IRF7):c.231T>C (p.Gly77=)
NM_001572.5(IRF7):c.258G>C (p.Ala86=) rs773208727
NM_001572.5(IRF7):c.267C>T (p.Ala89=)
NM_001572.5(IRF7):c.27C>G (p.Ala9=) rs1299888990
NM_001572.5(IRF7):c.294A>G (p.Ala98=)
NM_001572.5(IRF7):c.300C>T (p.Arg100=) rs1856734375
NM_001572.5(IRF7):c.318G>A (p.Val106=) rs1361245773
NM_001572.5(IRF7):c.324G>A (p.Leu108=)
NM_001572.5(IRF7):c.325C>A (p.Arg109=)
NM_001572.5(IRF7):c.351C>T (p.Asp117=)
NM_001572.5(IRF7):c.366C>T (p.Tyr122=) rs1589923311
NM_001572.5(IRF7):c.381G>A (p.Glu127=)
NM_001572.5(IRF7):c.394+10G>A
NM_001572.5(IRF7):c.394+17G>A
NM_001572.5(IRF7):c.394+18C>T rs1241168083
NM_001572.5(IRF7):c.394+19C>T
NM_001572.5(IRF7):c.395-16C>A
NM_001572.5(IRF7):c.395-19C>T
NM_001572.5(IRF7):c.405C>G (p.Gly135=)
NM_001572.5(IRF7):c.405C>T (p.Gly135=)
NM_001572.5(IRF7):c.414G>A (p.Gln138=)
NM_001572.5(IRF7):c.426G>A (p.Glu142=) rs752142358
NM_001572.5(IRF7):c.453+11_453+14del rs750372100
NM_001572.5(IRF7):c.453+7T>C
NM_001572.5(IRF7):c.453+9CT[2] rs750372100
NM_001572.5(IRF7):c.454-12T>C
NM_001572.5(IRF7):c.454-13C>G rs751919325
NM_001572.5(IRF7):c.454-14A>T
NM_001572.5(IRF7):c.45A>G (p.Gly15=)
NM_001572.5(IRF7):c.465A>C (p.Pro155=)
NM_001572.5(IRF7):c.465A>T (p.Pro155=) rs752812015
NM_001572.5(IRF7):c.480A>T (p.Ala160=) rs754110927
NM_001572.5(IRF7):c.489T>C (p.His163=)
NM_001572.5(IRF7):c.498C>G (p.Leu166=)
NM_001572.5(IRF7):c.498C>T (p.Leu166=)
NM_001572.5(IRF7):c.534_535inv (p.Lys179Glu)
NM_001572.5(IRF7):c.537G>A (p.Lys179=) rs1564883626
NM_001572.5(IRF7):c.540G>A (p.Gly180=)
NM_001572.5(IRF7):c.567G>A (p.Gln189=)
NM_001572.5(IRF7):c.576G>A (p.Leu192=)
NM_001572.5(IRF7):c.588G>A (p.Leu196=)
NM_001572.5(IRF7):c.591G>A (p.Leu197=) rs2133142557
NM_001572.5(IRF7):c.606G>T (p.Gly202=) rs2133142410
NM_001572.5(IRF7):c.639G>A (p.Glu213=)
NM_001572.5(IRF7):c.645A>G (p.Gln215=) rs2133141938
NM_001572.5(IRF7):c.663T>C (p.Thr221=) rs769400315
NM_001572.5(IRF7):c.672T>C (p.Cys224=) rs781365327
NM_001572.5(IRF7):c.679+11G>A
NM_001572.5(IRF7):c.679+14C>T
NM_001572.5(IRF7):c.679+17G>A
NM_001572.5(IRF7):c.679+18G>A
NM_001572.5(IRF7):c.679+19A>G rs763470053
NM_001572.5(IRF7):c.679+19del rs2133141171
NM_001572.5(IRF7):c.679+20G>C
NM_001572.5(IRF7):c.679+20G>T
NM_001572.5(IRF7):c.679+7G>A rs766387417
NM_001572.5(IRF7):c.679+8C>T
NM_001572.5(IRF7):c.680-14C>G
NM_001572.5(IRF7):c.680-16G>T
NM_001572.5(IRF7):c.681C>T (p.Gly227=) rs763653182
NM_001572.5(IRF7):c.699G>A (p.Gly233=)
NM_001572.5(IRF7):c.705G>A (p.Leu235=)
NM_001572.5(IRF7):c.705G>C (p.Leu235=)
NM_001572.5(IRF7):c.732C>G (p.Pro244=)
NM_001572.5(IRF7):c.747G>A (p.Gln249=)
NM_001572.5(IRF7):c.750C>A (p.Pro250=)
NM_001572.5(IRF7):c.766+10G>A
NM_001572.5(IRF7):c.766+12_766+17del
NM_001572.5(IRF7):c.766+20_766+21del
NM_001572.5(IRF7):c.766+9G>A
NM_001572.5(IRF7):c.767-17T>C rs780229684
NM_001572.5(IRF7):c.774C>T (p.Ala258=)
NM_001572.5(IRF7):c.783A>C (p.Pro261=) rs1294850193
NM_001572.5(IRF7):c.792G>A (p.Pro264=)
NM_001572.5(IRF7):c.798G>A (p.Gln266=)
NM_001572.5(IRF7):c.81T>C (p.Tyr27=)
NM_001572.5(IRF7):c.828C>T (p.Ser276=)
NM_001572.5(IRF7):c.837C>T (p.Thr279=) rs1471253141
NM_001572.5(IRF7):c.847+10T>G
NM_001572.5(IRF7):c.847+16G>A rs557367492
NM_001572.5(IRF7):c.847+16G>C rs557367492
NM_001572.5(IRF7):c.847+17A>G rs1856612388
NM_001572.5(IRF7):c.847+19G>A rs2133135600
NM_001572.5(IRF7):c.848-10C>T
NM_001572.5(IRF7):c.848-45_848-16del rs777061273
NM_001572.5(IRF7):c.848-77_848-18del rs2133133190
NM_001572.5(IRF7):c.855C>T (p.Ser285=)
NM_001572.5(IRF7):c.876C>T (p.Thr292=)
NM_001572.5(IRF7):c.897G>C (p.Thr299=)
NM_001572.5(IRF7):c.903G>C (p.Leu301=) rs2133132234
NM_001572.5(IRF7):c.906G>A (p.Gln302=) rs1012424120
NM_001572.5(IRF7):c.936C>T (p.Phe312=)
NM_001572.5(IRF7):c.957A>T (p.Pro319=) rs1178686150
NM_001572.5(IRF7):c.966G>A (p.Arg322=)
NM_001572.5(IRF7):c.99G>A (p.Leu33=) rs2133151353

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.