ClinVar Miner

List of variants reported as uncertain significance for MHC class II deficiency by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 204
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003721.4(RFXANK):c.213C>T (p.Thr71=) rs72997200 0.04571
NM_000246.4(CIITA):c.*261C>T rs45447897 0.01013
NM_000246.4(CIITA):c.*103T>C rs45617532 0.00711
NM_000246.4(CIITA):c.-84C>T rs45519531 0.00447
NM_000538.3(RFXAP):c.*1826delT rs142735439 0.00435
NM_000246.4(CIITA):c.*414T>C rs141707720 0.00346
NM_001025603.2(RFX5):c.*1520_*1521insATT rs529662057 0.00330
NM_000246.4(CIITA):c.*927G>A rs45538933 0.00239
NM_001025603.2(RFX5):c.*838A>G rs552790524 0.00197
NM_003721.4(RFXANK):c.765G>A (p.Val255=) rs113406972 0.00165
NM_000246.4(CIITA):c.1461C>G (p.Ile487Met) rs141202424 0.00124
NM_001025603.2(RFX5):c.-91G>A rs555635380 0.00081
NM_000246.4(CIITA):c.1068G>A (p.Pro356=) rs140486686 0.00080
NM_001025603.2(RFX5):c.1688C>T (p.Ser563Leu) rs150072792 0.00058
NM_000538.4(RFXAP):c.312C>T (p.Ser104=) rs373233313 0.00056
NM_000246.4(CIITA):c.*125C>T rs548867769 0.00054
NM_000246.4(CIITA):c.*465G>A rs190253856 0.00052
NM_000246.4(CIITA):c.2651G>A (p.Arg884His) rs374443915 0.00048
NM_000246.4(CIITA):c.*395T>C rs754661893 0.00046
NM_001025603.2(RFX5):c.1039T>C (p.Ser347Pro) rs199761884 0.00045
NM_000246.4(CIITA):c.1518G>A (p.Ala506=) rs201215476 0.00043
NM_000538.4(RFXAP):c.666A>G (p.Ala222=) rs139675642 0.00043
NM_000246.4(CIITA):c.1591G>A (p.Gly531Ser) rs144646271 0.00042
NM_003721.4(RFXANK):c.187+13C>T rs201778172 0.00041
NM_000246.4(CIITA):c.*126G>A rs565569961 0.00039
NM_000538.4(RFXAP):c.-101T>G rs566055344 0.00037
NM_000538.4(RFXAP):c.-82G>C rs1049387935 0.00036
NM_000246.4(CIITA):c.456G>A (p.Pro152=) rs151317882 0.00035
NM_001025603.2(RFX5):c.*1158G>A rs147378847 0.00035
NM_000246.4(CIITA):c.1926C>T (p.Val642=) rs138376967 0.00033
NM_000246.4(CIITA):c.2620G>T (p.Gly874Trp) rs113889330 0.00031
NM_000246.4(CIITA):c.*849T>C rs182641396 0.00030
NM_003721.4(RFXANK):c.-298C>T rs573479798 0.00030
NM_000538.3(RFXAP):c.*1730G>A rs559608963 0.00027
NM_000538.4(RFXAP):c.*818A>G rs545155315 0.00027
NM_001025603.2(RFX5):c.*1177C>T rs567453441 0.00025
NM_000246.4(CIITA):c.2817-10T>C rs75381106 0.00024
NM_001025603.2(RFX5):c.*373G>T rs886045280 0.00022
NM_000246.4(CIITA):c.*673G>A rs779237900 0.00021
NM_000246.4(CIITA):c.2892G>A (p.Leu964=) rs200599265 0.00021
NM_001025603.2(RFX5):c.*364A>C rs769251514 0.00021
NM_001025603.2(RFX5):c.477T>C (p.Tyr159=) rs144353639 0.00021
NM_000246.4(CIITA):c.*351C>T rs553581549 0.00019
NM_000538.4(RFXAP):c.77C>G (p.Pro26Arg) rs763162669 0.00019
NM_001025603.2(RFX5):c.-131-15T>C rs190371864 0.00019
NM_001025603.2(RFX5):c.40G>A (p.Gly14Arg) rs143245407 0.00016
NM_000246.4(CIITA):c.-83C>T rs534663824 0.00015
NM_000538.4(RFXAP):c.*201T>A rs530498685 0.00015
NM_000246.4(CIITA):c.1047T>C (p.Tyr349=) rs144735718 0.00014
NM_000246.4(CIITA):c.1542G>A (p.Thr514=) rs2228239 0.00014
NM_003721.4(RFXANK):c.660C>T (p.Ala220=) rs138423094 0.00014
NM_000246.4(CIITA):c.3003C>T (p.Asp1001=) rs143497260 0.00013
NM_003721.4(RFXANK):c.726C>G (p.Ile242Met) rs200043123 0.00013
NM_000246.4(CIITA):c.294C>T (p.Ile98=) rs200299817 0.00012
NM_000246.4(CIITA):c.772+8C>T rs557455283 0.00012
NM_000246.4(CIITA):c.*524A>G rs886051644 0.00011
NM_000246.4(CIITA):c.2405G>A (p.Arg802Gln) rs201182990 0.00011
NM_000246.4(CIITA):c.3234C>T (p.Asp1078=) rs201907821 0.00011
NM_000246.4(CIITA):c.352A>G (p.Ile118Val) rs142443082 0.00011
NM_000538.3(RFXAP):c.*1551A>G rs939525340 0.00011
NM_003721.4(RFXANK):c.529C>G (p.Leu177Val) rs151053440 0.00011
NM_000246.4(CIITA):c.1010C>T (p.Pro337Leu) rs147670132 0.00010
NM_000246.4(CIITA):c.*163C>T rs989760698 0.00009
NM_000246.4(CIITA):c.*267A>C rs761701057 0.00009
NM_000246.4(CIITA):c.*303C>T rs779795769 0.00009
NM_000246.4(CIITA):c.*314C>A rs185592699 0.00009
NM_000246.4(CIITA):c.2059A>G (p.Thr687Ala) rs201080914 0.00009
NM_000246.4(CIITA):c.3235G>A (p.Val1079Ile) rs150452306 0.00009
NM_001025603.2(RFX5):c.1830C>G (p.Asp610Glu) rs141889707 0.00009
NM_001025603.2(RFX5):c.938C>T (p.Ser313Leu) rs140885618 0.00009
NM_003721.4(RFXANK):c.233G>A (p.Arg78Gln) rs375541634 0.00009
NM_003721.4(RFXANK):c.421C>T (p.Arg141Cys) rs779039407 0.00009
NM_000246.4(CIITA):c.*164G>A rs570910497 0.00008
NM_001025603.2(RFX5):c.*1078C>T rs886045278 0.00008
NM_000246.4(CIITA):c.1731C>T (p.Tyr577=) rs142848848 0.00007
NM_000246.4(CIITA):c.307C>A (p.Gln103Lys) rs371519540 0.00007
NM_000246.4(CIITA):c.616G>A (p.Asp206Asn) rs771338224 0.00007
NM_000246.4(CIITA):c.1006+12G>A rs368964652 0.00006
NM_000246.4(CIITA):c.1517C>T (p.Ala506Val) rs200354120 0.00006
NM_000246.4(CIITA):c.1944A>T (p.Ala648=) rs778678693 0.00006
NM_000246.4(CIITA):c.384C>T (p.Ile128=) rs140106499 0.00006
NM_000246.4(CIITA):c.5G>A (p.Arg2His) rs755048657 0.00006
NM_003721.4(RFXANK):c.338-13C>G rs749579925 0.00006
NM_000246.4(CIITA):c.*203C>T rs527874709 0.00005
NM_000246.4(CIITA):c.3063-12G>T rs559875711 0.00005
NM_001025603.2(RFX5):c.*1330C>T rs886045276 0.00005
NM_003721.4(RFXANK):c.179C>T (p.Ser60Phe) rs142461365 0.00005
NM_000246.4(CIITA):c.*1092C>T rs886051646 0.00004
NM_000246.4(CIITA):c.*824T>C rs773206666 0.00004
NM_000246.4(CIITA):c.1556C>T (p.Pro519Leu) rs141006925 0.00004
NM_000246.4(CIITA):c.3012C>T (p.Val1004=) rs751445508 0.00004
NM_000246.4(CIITA):c.3052G>A (p.Glu1018Lys) rs747047617 0.00004
NM_001025603.2(RFX5):c.117-13C>T rs371670135 0.00004
NM_001025603.2(RFX5):c.1805G>A (p.Ser602Asn) rs371115213 0.00004
NM_001025603.2(RFX5):c.433G>C (p.Asp145His) rs999104857 0.00004
NM_000246.4(CIITA):c.*182C>G rs1264537500 0.00003
NM_000246.4(CIITA):c.*236G>A rs558642278 0.00003
NM_000246.4(CIITA):c.2096C>T (p.Pro699Leu) rs369787912 0.00003
NM_000246.4(CIITA):c.2409G>A (p.Ala803=) rs755302593 0.00003
NM_000246.4(CIITA):c.2442C>T (p.His814=) rs746490057 0.00003
NM_000246.4(CIITA):c.3357C>T (p.His1119=) rs754706834 0.00003
NM_000246.4(CIITA):c.781C>T (p.Pro261Ser) rs757943329 0.00003
NM_000246.4(CIITA):c.948G>A (p.Thr316=) rs369971838 0.00003
NM_000538.4(RFXAP):c.-116C>G rs886050141 0.00003
NM_000538.4(RFXAP):c.192C>G (p.Ser64Arg) rs758076793 0.00003
NM_000538.4(RFXAP):c.801T>C (p.Phe267=) rs536976297 0.00003
NM_003721.4(RFXANK):c.501C>A (p.Gly167=) rs145457604 0.00003
NM_003721.4(RFXANK):c.533A>C (p.Glu178Ala) rs372111384 0.00003
NM_000246.4(CIITA):c.3318-8C>G rs201115726 0.00002
NM_001025603.2(RFX5):c.*881C>T rs1245339817 0.00002
NM_001025603.2(RFX5):c.1236A>G (p.Thr412=) rs771403545 0.00002
NM_001025603.2(RFX5):c.1797G>A (p.Val599=) rs772352167 0.00002
NM_001025603.2(RFX5):c.59G>C (p.Gly20Ala) rs376672819 0.00002
NM_001025603.2(RFX5):c.807T>G (p.Gly269=) rs147137349 0.00002
NM_001025603.2(RFX5):c.858+13G>A rs778371620 0.00002
NM_003721.4(RFXANK):c.240C>T (p.Asn80=) rs754519730 0.00002
NM_003721.4(RFXANK):c.536G>A (p.Arg179His) rs562901844 0.00002
NM_003721.4(RFXANK):c.635G>A (p.Arg212Gln) rs757517948 0.00002
NM_000246.4(CIITA):c.*493T>C rs886051643 0.00001
NM_000246.4(CIITA):c.*587A>G rs374276437 0.00001
NM_000246.4(CIITA):c.*658G>A rs1019236857 0.00001
NM_000246.4(CIITA):c.*667T>C rs1177422629 0.00001
NM_000246.4(CIITA):c.-82G>A rs886051635 0.00001
NM_000246.4(CIITA):c.1211C>T (p.Ala404Val) rs1392912244 0.00001
NM_000246.4(CIITA):c.1241G>A (p.Arg414Gln) rs572327540 0.00001
NM_000246.4(CIITA):c.1376C>T (p.Pro459Leu) rs774567918 0.00001
NM_000246.4(CIITA):c.1635C>G (p.Leu545=) rs748330320 0.00001
NM_000246.4(CIITA):c.2087A>G (p.Gln696Arg) rs886051642 0.00001
NM_000246.4(CIITA):c.2139G>A (p.Leu713=) rs1319022837 0.00001
NM_000246.4(CIITA):c.2458G>A (p.Gly820Arg) rs2039291800 0.00001
NM_000246.4(CIITA):c.2709G>A (p.Gly903=) rs755515727 0.00001
NM_000246.4(CIITA):c.2834A>C (p.Glu945Ala) rs747917501 0.00001
NM_000246.4(CIITA):c.3149+11C>T rs371453398 0.00001
NM_000246.4(CIITA):c.404C>T (p.Pro135Leu) rs757017931 0.00001
NM_000246.4(CIITA):c.63G>C (p.Gln21His) rs748905238 0.00001
NM_000538.3(RFXAP):c.*1387T>C rs886050145 0.00001
NM_000538.3(RFXAP):c.*1703A>T rs997203433 0.00001
NM_000538.3(RFXAP):c.-144G>A rs886050140 0.00001
NM_000538.4(RFXAP):c.*351G>A rs1396109192 0.00001
NM_000538.4(RFXAP):c.*488A>G rs1265459000 0.00001
NM_000538.4(RFXAP):c.-131C>T rs1021353605 0.00001
NM_000538.4(RFXAP):c.15T>C (p.Gly5=) rs772887500 0.00001
NM_000538.4(RFXAP):c.44C>T (p.Ala15Val) rs1344939848 0.00001
NM_001025603.2(RFX5):c.*1252C>G rs886045277 0.00001
NM_001025603.2(RFX5):c.*29T>G rs1650494131 0.00001
NM_001025603.2(RFX5):c.*661T>C rs1650447532 0.00001
NM_001025603.2(RFX5):c.1090A>G (p.Thr364Ala) rs1290400173 0.00001
NM_001025603.2(RFX5):c.1746G>C (p.Lys582Asn) rs750907232 0.00001
NM_001025603.2(RFX5):c.46A>G (p.Arg16Gly) rs1267411733 0.00001
NM_003721.4(RFXANK):c.437G>A (p.Trp146Ter) rs778357787 0.00001
NM_003721.4(RFXANK):c.514A>G (p.Ile172Val) rs886054309 0.00001
NM_003721.4(RFXANK):c.540C>T (p.Asp180=) rs576657199 0.00001
NM_000246.4(CIITA):c.*1122A>G rs1446926082
NM_000246.4(CIITA):c.*307G>A rs112026375
NM_000246.4(CIITA):c.*378G>A rs751268540
NM_000246.4(CIITA):c.*48G>C rs1201649733
NM_000246.4(CIITA):c.*570G>A rs886051645
NM_000246.4(CIITA):c.*708C>A rs952463695
NM_000246.4(CIITA):c.*709G>T rs551164286
NM_000246.4(CIITA):c.1075A>G (p.Ile359Val) rs2039171491
NM_000246.4(CIITA):c.1148C>T (p.Ala383Val) rs763945523
NM_000246.4(CIITA):c.1215G>T (p.Lys405Asn) rs886051638
NM_000246.4(CIITA):c.1296A>T (p.Ala432=) rs886051639
NM_000246.4(CIITA):c.147C>T (p.His49=) rs886051636
NM_000246.4(CIITA):c.1493T>C (p.Leu498Pro) rs886051640
NM_000246.4(CIITA):c.1927G>T (p.Gly643Cys) rs949731275
NM_000246.4(CIITA):c.1971G>T (p.Leu657=) rs886051641
NM_000246.4(CIITA):c.2078G>A (p.Gly693Asp) rs146380734
NM_000246.4(CIITA):c.2148C>T (p.Phe716=) rs762483007
NM_000246.4(CIITA):c.2816+14C>T rs191941806
NM_000246.4(CIITA):c.2832G>T (p.Ser944=) rs766538754
NM_000246.4(CIITA):c.3062+14G>A rs370557976
NM_000246.4(CIITA):c.3123G>C (p.Ser1041=) rs138925894
NM_000246.4(CIITA):c.366A>T (p.Ile122=) rs535705691
NM_000246.4(CIITA):c.491C>G (p.Pro164Arg) rs886051637
NM_000246.4(CIITA):c.492C>G (p.Pro164=) rs142478532
NM_000246.4(CIITA):c.773-11C>T rs767721211
NM_000246.4(CIITA):c.961T>C (p.Cys321Arg) rs2039023316
NM_000538.3(RFXAP):c.*1431_*1432delGT rs886050146
NM_000538.3(RFXAP):c.*1541G>C rs2057988057
NM_000538.3(RFXAP):c.*1663G>A rs886050147
NM_000538.3(RFXAP):c.-142T>C rs2057951998
NM_000538.4(RFXAP):c.*1240G>T rs886050144
NM_000538.4(RFXAP):c.*660A>T rs2057985302
NM_000538.4(RFXAP):c.*81G>A rs886050143
NM_000538.4(RFXAP):c.-105C>A rs527311083
NM_000538.4(RFXAP):c.601-4C>T rs886050142
NM_001025603.2(RFX5):c.*1118A>G rs755296550
NM_001025603.2(RFX5):c.*1166A>G rs1469541203
NM_001025603.2(RFX5):c.*1426A>G rs1650383710
NM_001025603.2(RFX5):c.*224T>C rs886045281
NM_001025603.2(RFX5):c.*694del rs570133232
NM_001025603.2(RFX5):c.*721G>T rs116610938
NM_001025603.2(RFX5):c.*761A>T rs1650440219
NM_001025603.2(RFX5):c.*985del rs886045279
NM_001025603.2(RFX5):c.-131-8C>A rs886045284
NM_001025603.2(RFX5):c.129G>A (p.Gln43=) rs1651009031
NM_001025603.2(RFX5):c.1604dup (p.Asp536fs) rs1557829931
NM_001025603.2(RFX5):c.1661_1663del (p.Ala554del) rs886045282
NM_001025603.2(RFX5):c.4G>A (p.Ala2Thr) rs886045283
NM_001025603.2(RFX5):c.859-15C>T rs377295214
NM_003721.3(RFXANK):c.-495C>G rs886054308
NM_003721.4(RFXANK):c.299A>G (p.Gln100Arg) rs2060615482
NM_003721.4(RFXANK):c.409A>T (p.Ile137Phe) rs2060623718

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.