ClinVar Miner

List of variants reported as pathogenic for MHC class II deficiency

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Total variants: 109
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HGVS dbSNP gnomAD frequency
NM_000246.4(CIITA):c.2888+1G>A rs372826934 0.00003
NM_000538.4(RFXAP):c.127C>T (p.Gln43Ter) rs1313207845 0.00002
NM_003721.4(RFXANK):c.338-25_338del rs776752313 0.00002
NM_000246.4(CIITA):c.922C>T (p.Arg308Ter) rs567218474 0.00001
NM_001025603.2(RFX5):c.1578_1594dup (p.Gln532fs) rs757464167 0.00001
NM_001025603.2(RFX5):c.445C>T (p.Arg149Ter) rs1489967497 0.00001
NM_001025603.2(RFX5):c.880C>T (p.Arg294Ter) rs1196551559 0.00001
NM_003721.4(RFXANK):c.232C>T (p.Arg78Ter) rs779699696 0.00001
NM_003721.4(RFXANK):c.383del (p.Leu128fs) rs770387882 0.00001
NM_003721.4(RFXANK):c.437G>A (p.Trp146Ter) rs778357787 0.00001
NM_003721.4(RFXANK):c.454_455del (p.Ile152fs) rs753338285 0.00001
NM_003721.4(RFXANK):c.634C>T (p.Arg212Ter) rs747402973 0.00001
NC_000013.10:g.(?_37393495)_(37583436_?)del
NC_000016.10:g.(?_10877311)_(10923323_?)del
NC_000016.9:g.(?_10637407)_(10971259_?)del
NC_000016.9:g.(?_10971168)_(10971259_?)del
NC_000016.9:g.(?_10971188)_(11650586_?)del
NC_000016.9:g.(?_11000336)_(11017160_?)del
NC_000019.9:g.(?_19304756)_(19304962_?)del
NM_000246.4(CIITA):c.1012del (p.Val338fs)
NM_000246.4(CIITA):c.1049del (p.Gly350fs)
NM_000246.4(CIITA):c.1054_1058del (p.Glu352fs)
NM_000246.4(CIITA):c.1099C>T (p.Gln367Ter)
NM_000246.4(CIITA):c.1190del (p.Leu397fs) rs2039181631
NM_000246.4(CIITA):c.1240C>T (p.Arg414Ter) rs2144701260
NM_000246.4(CIITA):c.1383dup (p.Ala462fs) rs2039198631
NM_000246.4(CIITA):c.1389T>G (p.Tyr463Ter) rs1306793050
NM_000246.4(CIITA):c.1399del (p.Asp467fs)
NM_000246.4(CIITA):c.1423C>T (p.Gln475Ter)
NM_000246.4(CIITA):c.1502_1511del (p.Phe501fs) rs2144710452
NM_000246.4(CIITA):c.1518del (p.Gln507fs)
NM_000246.4(CIITA):c.1536_1537insTTGCGGTC (p.Ser513fs) rs2144711765
NM_000246.4(CIITA):c.1566del (p.Cys523fs)
NM_000246.4(CIITA):c.1615C>T (p.Arg539Ter)
NM_000246.4(CIITA):c.1717C>T (p.Gln573Ter) rs2144718631
NM_000246.4(CIITA):c.1847del (p.Ala616fs)
NM_000246.4(CIITA):c.1863dup (p.Glu622fs) rs2144723164
NM_000246.4(CIITA):c.1920_1921insGA (p.Tyr641fs)
NM_000246.4(CIITA):c.1922_1923del (p.Tyr641fs)
NM_000246.4(CIITA):c.1962del (p.Ala656fs) rs778982759
NM_000246.4(CIITA):c.1962dup (p.Gly655fs) rs778982759
NM_000246.4(CIITA):c.2014C>T (p.Gln672Ter) rs2144728494
NM_000246.4(CIITA):c.2026C>T (p.Gln676Ter) rs901844850
NM_000246.4(CIITA):c.2063G>A (p.Trp688Ter) rs863223293
NM_000246.4(CIITA):c.2064G>A (p.Trp688Ter)
NM_000246.4(CIITA):c.2103del (p.Ala702fs)
NM_000246.4(CIITA):c.2163G>A (p.Trp721Ter)
NM_000246.4(CIITA):c.2203C>T (p.Gln735Ter)
NM_000246.4(CIITA):c.2250G>A (p.Trp750Ter)
NM_000246.4(CIITA):c.2290del (p.Gln764fs) rs1064794659
NM_000246.4(CIITA):c.2406_2437del (p.Ala803fs)
NM_000246.4(CIITA):c.2436C>A (p.Cys812Ter)
NM_000246.4(CIITA):c.2444del (p.Glu815fs)
NM_000246.4(CIITA):c.2466G>A (p.Trp822Ter)
NM_000246.4(CIITA):c.2479C>T (p.Gln827Ter) rs2144743127
NM_000246.4(CIITA):c.2490del (p.Gly831fs) rs2144743381
NM_000246.4(CIITA):c.2526del (p.Pro843fs) rs2144745003
NM_000246.4(CIITA):c.2563del (p.Ala855fs)
NM_000246.4(CIITA):c.2567del (p.Gly856fs)
NM_000246.4(CIITA):c.2591_2595del (p.Arg864fs)
NM_000246.4(CIITA):c.2740A>T (p.Lys914Ter) rs2144769768
NM_000246.4(CIITA):c.2775_2777delinsTT (p.Lys926fs)
NM_000246.4(CIITA):c.2828_2829insTG (p.Ser944fs) rs2144800871
NM_000246.4(CIITA):c.3098_3116del (p.Tyr1033fs)
NM_000246.4(CIITA):c.3361C>T (p.Gln1121Ter) rs2145173097
NM_000246.4(CIITA):c.36C>A (p.Tyr12Ter) rs367628451
NM_000246.4(CIITA):c.376G>T (p.Glu126Ter)
NM_000246.4(CIITA):c.587_597del (p.Ala196fs)
NM_000246.4(CIITA):c.630_633del (p.Met210fs) rs2038865240
NM_000246.4(CIITA):c.632del (p.Pro211fs) rs2144580551
NM_000246.4(CIITA):c.682C>T (p.Gln228Ter) rs2144582937
NM_000246.4(CIITA):c.802_803dup (p.Pro269fs) rs2144614170
NM_000538.4(RFXAP):c.188del (p.Gly63fs) rs1388967331
NM_000538.4(RFXAP):c.203dup (p.Lys69fs) rs1249595284
NM_000538.4(RFXAP):c.323T>A (p.Leu108Ter) rs754240018
NM_000538.4(RFXAP):c.359del (p.Gly120fs) rs1224857205
NM_000538.4(RFXAP):c.368del (p.Ser123fs)
NM_000538.4(RFXAP):c.429C>G (p.Tyr143Ter)
NM_000538.4(RFXAP):c.524_527del (p.Lys175fs) rs2138213000
NM_001025603.2(RFX5):c.1008_1014del (p.Pro337fs)
NM_001025603.2(RFX5):c.1016C>G (p.Ser339Ter) rs992795118
NM_001025603.2(RFX5):c.1034_1035del (p.Pro345fs)
NM_001025603.2(RFX5):c.1059del (p.Arg354fs)
NM_001025603.2(RFX5):c.1374dup (p.Ala459fs)
NM_001025603.2(RFX5):c.1408C>T (p.Arg470Ter)
NM_001025603.2(RFX5):c.1499G>A (p.Trp500Ter)
NM_001025603.2(RFX5):c.151-1G>T
NM_001025603.2(RFX5):c.172del (p.Asp58fs)
NM_001025603.2(RFX5):c.273T>G (p.Tyr91Ter) rs1650858382
NM_001025603.2(RFX5):c.312dup (p.Asp105Ter) rs1571262081
NM_001025603.2(RFX5):c.367_368del (p.Leu124fs)
NM_001025603.2(RFX5):c.55_56dup (p.Gly20fs)
NM_001025603.2(RFX5):c.56dup (p.Gly20fs) rs758904746
NM_001025603.2(RFX5):c.582del (p.Ala195fs)
NM_001025603.2(RFX5):c.602del (p.Val201fs) rs1557832711
NM_001025603.2(RFX5):c.609del (p.Ala204fs) rs1571260017
NM_001025603.2(RFX5):c.715C>T (p.Arg239Ter)
NM_001025603.2(RFX5):c.809T>G (p.Leu270Ter)
NM_001025603.2(RFX5):c.961C>T (p.Gln321Ter)
NM_003721.4(RFXANK):c.271+1G>C rs759667201
NM_003721.4(RFXANK):c.271+1delinsTCAC rs2060611603
NM_003721.4(RFXANK):c.271_271+1insCTGCC rs1568578781
NM_003721.4(RFXANK):c.362A>T (p.Asp121Val) rs104894709
NM_003721.4(RFXANK):c.481del (p.Leu161fs) rs2146492780
NM_003721.4(RFXANK):c.532G>T (p.Glu178Ter) rs2146493181
NM_003721.4(RFXANK):c.558T>A (p.Tyr186Ter) rs1599784374
NM_003721.4(RFXANK):c.599_600del (p.Gly200fs) rs2146496053
NM_003721.4(RFXANK):c.600del (p.Asn201fs)
NM_003721.4(RFXANK):c.713-1G>A rs2060720733

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