ClinVar Miner

List of variants in gene CIITA reported as pathogenic

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Gene type:
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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_000246.4(CIITA):c.2888+1G>A rs372826934 0.00003
NM_000246.4(CIITA):c.3317+1G>A rs771073292 0.00001
NM_000246.4(CIITA):c.922C>T (p.Arg308Ter) rs567218474 0.00001
NC_000016.10:g.(?_10877311)_(10923323_?)del
NC_000016.9:g.(?_10971168)_(10971259_?)del
NC_000016.9:g.(?_11000336)_(11017160_?)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.1141G>T (p.Glu381Ter) rs137852602
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.2890_2969+1del rs1555507411
NM_000246.4(CIITA):c.3080_3082del (p.Ile1027del) rs2145057679
NM_000246.4(CIITA):c.3098_3116del (p.Tyr1033fs)
NM_000246.4(CIITA):c.3361C>T (p.Gln1121Ter) rs2145173097
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

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