ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 205
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HGVS dbSNP
NC_000013.11:g.36819216T>C
NC_000013.11:g.36829294G>C
NC_000013.11:g.36829304A>G
NC_000013.11:g.36829456A>T
NC_000013.11:g.36829483G>A
NM_000246.3(CIITA):c.*103T>C rs45617532
NM_000246.3(CIITA):c.*1092C>T rs886051646
NM_000246.3(CIITA):c.*1122A>G
NM_000246.3(CIITA):c.*125C>T rs548867769
NM_000246.3(CIITA):c.*126G>A
NM_000246.3(CIITA):c.*163C>T
NM_000246.3(CIITA):c.*164G>A
NM_000246.3(CIITA):c.*182C>G
NM_000246.3(CIITA):c.*203C>T rs527874709
NM_000246.3(CIITA):c.*236G>A rs558642278
NM_000246.3(CIITA):c.*261C>T rs45447897
NM_000246.3(CIITA):c.*267A>C
NM_000246.3(CIITA):c.*303C>T
NM_000246.3(CIITA):c.*307G>A rs112026375
NM_000246.3(CIITA):c.*314C>A rs185592699
NM_000246.3(CIITA):c.*351C>T
NM_000246.3(CIITA):c.*378G>A
NM_000246.3(CIITA):c.*395T>C
NM_000246.3(CIITA):c.*414T>C rs141707720
NM_000246.3(CIITA):c.*465G>A rs190253856
NM_000246.3(CIITA):c.*48G>C
NM_000246.3(CIITA):c.*493T>C rs886051643
NM_000246.3(CIITA):c.*524A>G rs886051644
NM_000246.3(CIITA):c.*570G>A rs886051645
NM_000246.3(CIITA):c.*587A>G rs374276437
NM_000246.3(CIITA):c.*658G>A
NM_000246.3(CIITA):c.*667T>C
NM_000246.3(CIITA):c.*673G>A
NM_000246.3(CIITA):c.*708C>A
NM_000246.3(CIITA):c.*709G>T rs551164286
NM_000246.3(CIITA):c.*824T>C
NM_000246.3(CIITA):c.*849T>C
NM_000246.3(CIITA):c.*927G>A rs45538933
NM_000246.3(CIITA):c.-82G>A rs886051635
NM_000246.3(CIITA):c.-83C>T
NM_000246.3(CIITA):c.-84C>T
NM_000246.3(CIITA):c.1006+12G>A rs368964652
NM_000246.3(CIITA):c.1010C>T (p.Pro337Leu) rs147670132
NM_000246.3(CIITA):c.1047T>C (p.Tyr349=) rs144735718
NM_000246.3(CIITA):c.1068G>A (p.Pro356=) rs140486686
NM_000246.3(CIITA):c.1075A>G (p.Ile359Val)
NM_000246.3(CIITA):c.1148C>T (p.Ala383Val)
NM_000246.3(CIITA):c.1211C>T (p.Ala404Val)
NM_000246.3(CIITA):c.1215G>T (p.Lys405Asn) rs886051638
NM_000246.3(CIITA):c.1241G>A (p.Arg414Gln) rs572327540
NM_000246.3(CIITA):c.1296A>T (p.Ala432=) rs886051639
NM_000246.3(CIITA):c.1376C>T (p.Pro459Leu) rs774567918
NM_000246.3(CIITA):c.1461C>G (p.Ile487Met) rs141202424
NM_000246.3(CIITA):c.147C>T (p.His49=) rs886051636
NM_000246.3(CIITA):c.1493T>C (p.Leu498Pro) rs886051640
NM_000246.3(CIITA):c.1517C>T (p.Ala506Val)
NM_000246.3(CIITA):c.1518G>A (p.Ala506=) rs201215476
NM_000246.3(CIITA):c.1542G>A (p.Thr514=) rs2228239
NM_000246.3(CIITA):c.1556C>T (p.Pro519Leu) rs141006925
NM_000246.3(CIITA):c.1591G>A (p.Gly531Ser) rs144646271
NM_000246.3(CIITA):c.1635C>G (p.Leu545=) rs748330320
NM_000246.3(CIITA):c.1731C>T (p.Tyr577=) rs142848848
NM_000246.3(CIITA):c.1926C>T (p.Val642=) rs138376967
NM_000246.3(CIITA):c.1927G>T (p.Gly643Cys)
NM_000246.3(CIITA):c.1944A>T (p.Ala648=)
NM_000246.3(CIITA):c.1971G>T (p.Leu657=) rs886051641
NM_000246.3(CIITA):c.2059A>G (p.Thr687Ala) rs201080914
NM_000246.3(CIITA):c.2078G>A (p.Gly693Asp)
NM_000246.3(CIITA):c.2087A>G (p.Gln696Arg) rs886051642
NM_000246.3(CIITA):c.2096C>T (p.Pro699Leu) rs369787912
NM_000246.3(CIITA):c.2139G>A (p.Leu713=)
NM_000246.3(CIITA):c.2148C>T (p.Phe716=) rs762483007
NM_000246.3(CIITA):c.2405G>A (p.Arg802Gln) rs201182990
NM_000246.3(CIITA):c.2409G>A (p.Ala803=)
NM_000246.3(CIITA):c.2442C>T (p.His814=) rs746490057
NM_000246.3(CIITA):c.2458G>A (p.Gly820Arg)
NM_000246.3(CIITA):c.2620G>T (p.Gly874Trp) rs113889330
NM_000246.3(CIITA):c.2651G>A (p.Arg884His) rs374443915
NM_000246.3(CIITA):c.2709G>A (p.Gly903=) rs755515727
NM_000246.3(CIITA):c.2816+14C>T
NM_000246.3(CIITA):c.2817-10T>C rs75381106
NM_000246.3(CIITA):c.2832G>T (p.Ser944=)
NM_000246.3(CIITA):c.2834A>C (p.Glu945Ala) rs747917501
NM_000246.3(CIITA):c.2888+1G>A rs372826934
NM_000246.3(CIITA):c.2892G>A (p.Leu964=) rs200599265
NM_000246.3(CIITA):c.294C>T (p.Ile98=) rs200299817
NM_000246.3(CIITA):c.3003C>T (p.Asp1001=) rs143497260
NM_000246.3(CIITA):c.3012C>T (p.Val1004=)
NM_000246.3(CIITA):c.3052G>A (p.Glu1018Lys)
NM_000246.3(CIITA):c.3062+14G>A
NM_000246.3(CIITA):c.3063-12G>T rs559875711
NM_000246.3(CIITA):c.307C>A (p.Gln103Lys) rs371519540
NM_000246.3(CIITA):c.3123G>C (p.Ser1041=) rs138925894
NM_000246.3(CIITA):c.3149+11C>T rs371453398
NM_000246.3(CIITA):c.3234C>T (p.Asp1078=)
NM_000246.3(CIITA):c.3235G>A (p.Val1079Ile)
NM_000246.3(CIITA):c.3318-8C>G
NM_000246.3(CIITA):c.3357C>T (p.His1119=) rs754706834
NM_000246.3(CIITA):c.352A>G (p.Ile118Val) rs142443082
NM_000246.3(CIITA):c.366A>T (p.Ile122=)
NM_000246.3(CIITA):c.384C>T (p.Ile128=) rs140106499
NM_000246.3(CIITA):c.404C>T (p.Pro135Leu)
NM_000246.3(CIITA):c.456G>A (p.Pro152=) rs151317882
NM_000246.3(CIITA):c.491C>G (p.Pro164Arg) rs886051637
NM_000246.3(CIITA):c.492C>G (p.Pro164=) rs142478532
NM_000246.3(CIITA):c.5G>A (p.Arg2His) rs755048657
NM_000246.3(CIITA):c.616G>A (p.Asp206Asn) rs771338224
NM_000246.3(CIITA):c.63G>C (p.Gln21His)
NM_000246.3(CIITA):c.772+8C>T rs557455283
NM_000246.3(CIITA):c.773-11C>T rs767721211
NM_000246.3(CIITA):c.781C>T (p.Pro261Ser) rs757943329
NM_000246.3(CIITA):c.948G>A (p.Thr316=)
NM_000246.3(CIITA):c.961T>C (p.Cys321Arg)
NM_000449.3(RFX5):c.*1078C>T rs886045278
NM_000449.3(RFX5):c.*1118A>G rs755296550
NM_000449.3(RFX5):c.*1177C>T rs567453441
NM_000449.3(RFX5):c.*1252C>G rs886045277
NM_000449.3(RFX5):c.*1330C>T rs886045276
NM_000449.3(RFX5):c.*1520_*1521insATT rs529662057
NM_000449.3(RFX5):c.*224T>C rs886045281
NM_000449.3(RFX5):c.*364A>C rs769251514
NM_000449.3(RFX5):c.*373G>T rs886045280
NM_000449.3(RFX5):c.*694del rs570133232
NM_000449.3(RFX5):c.*838A>G rs552790524
NM_000449.3(RFX5):c.*985del rs886045279
NM_000449.3(RFX5):c.-138-8C>A rs886045284
NM_000449.3(RFX5):c.-98G>A rs555635380
NM_000449.3(RFX5):c.1039T>C (p.Ser347Pro) rs199761884
NM_000449.3(RFX5):c.1236A>G (p.Thr412=) rs771403545
NM_000449.3(RFX5):c.1604dup (p.Asp536fs) rs1557829931
NM_000449.3(RFX5):c.1661_1663del (p.Ala554del) rs886045282
NM_000449.3(RFX5):c.1688C>T (p.Ser563Leu) rs150072792
NM_000449.3(RFX5):c.1746G>C (p.Lys582Asn) rs750907232
NM_000449.3(RFX5):c.1805G>A (p.Ser602Asn) rs371115213
NM_000449.3(RFX5):c.1830C>G (p.Asp610Glu) rs141889707
NM_000449.3(RFX5):c.40G>A (p.Gly14Arg) rs143245407
NM_000449.3(RFX5):c.477T>C (p.Tyr159=) rs144353639
NM_000449.3(RFX5):c.4G>A (p.Ala2Thr) rs886045283
NM_000449.3(RFX5):c.858+13G>A rs778371620
NM_000449.3(RFX5):c.938C>T (p.Ser313Leu) rs140885618
NM_000538.3(RFXAP):c.*1240G>T rs886050144
NM_000538.3(RFXAP):c.*1387T>C rs886050145
NM_000538.3(RFXAP):c.*1431_*1432del rs886050146
NM_000538.3(RFXAP):c.*1663G>A rs886050147
NM_000538.3(RFXAP):c.*1826del rs142735439
NM_000538.3(RFXAP):c.*818A>G rs545155315
NM_000538.3(RFXAP):c.*81G>A rs886050143
NM_000538.3(RFXAP):c.-101T>G rs566055344
NM_000538.3(RFXAP):c.-105C>A rs527311083
NM_000538.3(RFXAP):c.-116C>G rs886050141
NM_000538.3(RFXAP):c.-144G>A rs886050140
NM_000538.3(RFXAP):c.15T>C (p.Gly5=) rs772887500
NM_000538.3(RFXAP):c.192C>G (p.Ser64Arg) rs758076793
NM_000538.3(RFXAP):c.312C>T (p.Ser104=) rs373233313
NM_000538.3(RFXAP):c.601-4C>T rs886050142
NM_000538.3(RFXAP):c.666A>G (p.Ala222=) rs139675642
NM_000538.3(RFXAP):c.77C>G (p.Pro26Arg) rs763162669
NM_000538.3(RFXAP):c.801T>C (p.Phe267=) rs536976297
NM_000538.4(RFXAP):c.*201T>A
NM_000538.4(RFXAP):c.*351G>A
NM_000538.4(RFXAP):c.*488A>G
NM_000538.4(RFXAP):c.*660A>T
NM_000538.4(RFXAP):c.-131C>T
NM_000538.4(RFXAP):c.-82G>C
NM_000538.4(RFXAP):c.44C>T (p.Ala15Val)
NM_001025603.2(RFX5):c.*1158G>A
NM_001025603.2(RFX5):c.*1166A>G
NM_001025603.2(RFX5):c.*1426A>G
NM_001025603.2(RFX5):c.*29T>G
NM_001025603.2(RFX5):c.*661T>C
NM_001025603.2(RFX5):c.*721G>T
NM_001025603.2(RFX5):c.*761A>T
NM_001025603.2(RFX5):c.*881C>T
NM_001025603.2(RFX5):c.-131-15T>C
NM_001025603.2(RFX5):c.1090A>G (p.Thr364Ala)
NM_001025603.2(RFX5):c.117-13C>T
NM_001025603.2(RFX5):c.129G>A (p.Gln43=)
NM_001025603.2(RFX5):c.1797G>A (p.Val599=)
NM_001025603.2(RFX5):c.433G>C (p.Asp145His)
NM_001025603.2(RFX5):c.46A>G (p.Arg16Gly)
NM_001025603.2(RFX5):c.59G>C (p.Gly20Ala)
NM_001025603.2(RFX5):c.807T>G (p.Gly269=)
NM_001025603.2(RFX5):c.859-15C>T
NM_003721.4(RFXANK):c.-298C>T rs573479798
NM_003721.4(RFXANK):c.179C>T (p.Ser60Phe)
NM_003721.4(RFXANK):c.187+13C>T rs201778172
NM_003721.4(RFXANK):c.213C>T (p.Thr71=) rs72997200
NM_003721.4(RFXANK):c.233G>A (p.Arg78Gln) rs375541634
NM_003721.4(RFXANK):c.240C>T (p.Asn80=) rs754519730
NM_003721.4(RFXANK):c.299A>G (p.Gln100Arg)
NM_003721.4(RFXANK):c.338-13C>G rs749579925
NM_003721.4(RFXANK):c.409A>T (p.Ile137Phe)
NM_003721.4(RFXANK):c.421C>T (p.Arg141Cys) rs779039407
NM_003721.4(RFXANK):c.437G>A (p.Trp146Ter) rs778357787
NM_003721.4(RFXANK):c.501C>A (p.Gly167=) rs145457604
NM_003721.4(RFXANK):c.514A>G (p.Ile172Val) rs886054309
NM_003721.4(RFXANK):c.529C>G (p.Leu177Val) rs151053440
NM_003721.4(RFXANK):c.533A>C (p.Glu178Ala) rs372111384
NM_003721.4(RFXANK):c.536G>A (p.Arg179His)
NM_003721.4(RFXANK):c.540C>T (p.Asp180=)
NM_003721.4(RFXANK):c.635G>A (p.Arg212Gln) rs757517948
NM_003721.4(RFXANK):c.660C>T (p.Ala220=)
NM_003721.4(RFXANK):c.726C>G (p.Ile242Met) rs200043123
NM_003721.4(RFXANK):c.765G>A (p.Val255=) rs113406972
NM_134440.2(RFXANK):c.-495C>G rs886054308

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