ClinVar Miner

List of variants in gene CIITA reported as benign for MHC class II deficiency

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Gene type:
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Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_000246.4(CIITA):c.520= (p.Gly174=) rs8046121 0.98494
NM_000246.4(CIITA):c.2699A>G (p.Gln900Arg) rs7197779 0.92908
NM_000246.4(CIITA):c.*910T>C rs1139564 0.71323
NM_000246.4(CIITA):c.2676G>A (p.Thr892=) rs2228238 0.64681
NC_000016.10:g.10877045G>A rs3087456 0.52763
NM_000246.4(CIITA):c.2888+34C>T rs4781019 0.49064
NM_000246.4(CIITA):c.482-45G>T rs6498124 0.46458
NM_000246.4(CIITA):c.3318-27G>A rs4781024 0.33728
NM_000246.4(CIITA):c.1499G>C (p.Gly500Ala) rs4774 0.27935
NM_000246.4(CIITA):c.2816+57G>A rs7196089 0.27847
NM_000246.4(CIITA):c.629-116C>A rs4781016 0.27687
NM_000246.4(CIITA):c.772+24G>A rs35170497 0.27193
NM_000246.4(CIITA):c.938-119T>C rs4780333 0.21332
NM_000246.4(CIITA):c.2421G>T (p.Leu807=) rs34654419 0.21279
NM_000246.4(CIITA):c.2969+80C>A rs7500869 0.19175
NM_000246.4(CIITA):c.2394G>A (p.Pro798=) rs2229320 0.16037
NM_000246.4(CIITA):c.3171C>T (p.Cys1057=) rs2229322 0.09639
NM_000246.4(CIITA):c.2331G>T (p.Ser777=) rs34685848 0.06730
NM_000246.4(CIITA):c.133C>G (p.Leu45Val) rs2229317 0.06359
NM_000246.4(CIITA):c.2345T>C (p.Val782Ala) rs13336804 0.06290
NM_000246.4(CIITA):c.2565G>A (p.Ala855=) rs2229321 0.06266
NM_000246.4(CIITA):c.2342C>T (p.Ser781Leu) rs13330686 0.06264
NM_000246.4(CIITA):c.*690C>T rs11074940 0.03881
NM_000246.4(CIITA):c.*735G>A rs34538398 0.03616
NM_000246.4(CIITA):c.*911G>A rs45466393 0.03491
NM_000246.4(CIITA):c.225C>T (p.Cys75=) rs2229318 0.03257
NM_000246.4(CIITA):c.*158G>A rs45451491 0.02886
NM_000246.4(CIITA):c.2472C>T (p.His824=) rs45621432 0.02015
NM_000246.4(CIITA):c.520G>A (p.Gly174Arg) rs8046121 0.01506
NM_000246.4(CIITA):c.2072C>A (p.Ala691Asp) rs78108426 0.01496
NM_000246.4(CIITA):c.2286C>A (p.Ile762=) rs35976871 0.01268
NM_000246.4(CIITA):c.3255G>A (p.Thr1085=) rs75521576 0.00964
NM_000246.4(CIITA):c.1973C>G (p.Ala658Gly) rs2229319 0.00945
NM_000246.4(CIITA):c.*644C>G rs139802594 0.00727
NM_000246.4(CIITA):c.200-10T>C rs45474796 0.00588
NM_000246.4(CIITA):c.1429C>A (p.Leu477Ile) rs150205851 0.00483
NM_000246.4(CIITA):c.370C>A (p.Pro124Thr) rs77169590 0.00403
NM_000246.4(CIITA):c.2448C>T (p.Ala816=) rs112250421 0.00272
NM_000246.4(CIITA):c.53-12C>T rs112310350 0.00260
NM_000246.4(CIITA):c.3108C>T (p.Ala1036=) rs150276623 0.00215
NM_000246.4(CIITA):c.296-20G>A rs75369652 0.00194
NM_000246.4(CIITA):c.358+11G>A rs118033640 0.00155
NM_000246.4(CIITA):c.773-18T>G rs75483410 0.00142
NM_000246.4(CIITA):c.1461C>G (p.Ile487Met) rs141202424 0.00124
NM_000246.4(CIITA):c.937+20G>A rs367634505 0.00114
NM_000246.4(CIITA):c.1491C>T (p.Ile497=) rs138250353 0.00091
NM_000246.4(CIITA):c.772+12G>A rs149554407 0.00088
NM_000246.4(CIITA):c.1068G>A (p.Pro356=) rs140486686 0.00080
NM_000246.4(CIITA):c.691C>T (p.Pro231Ser) rs147472574 0.00071
NM_000246.4(CIITA):c.1740C>G (p.Arg580=) rs78666334 0.00070
NM_000246.4(CIITA):c.2682G>A (p.Ala894=) rs148091568 0.00064
NM_000246.4(CIITA):c.*1126T>G rs145729250 0.00046
NM_000246.4(CIITA):c.1518G>A (p.Ala506=) rs201215476 0.00043
NM_000246.4(CIITA):c.456G>A (p.Pro152=) rs151317882 0.00035
NM_000246.4(CIITA):c.1926C>T (p.Val642=) rs138376967 0.00033
NM_000246.4(CIITA):c.3150-6C>T rs192219239 0.00030
NM_000246.4(CIITA):c.1047T>C (p.Tyr349=) rs144735718 0.00014
NM_000246.4(CIITA):c.1230G>A (p.Pro410=) rs199476069 0.00014
NM_000246.4(CIITA):c.1542G>A (p.Thr514=) rs2228239 0.00014
NM_000246.4(CIITA):c.1791C>G (p.Leu597=) rs201657235 0.00014
NM_000246.4(CIITA):c.772+8C>T rs557455283 0.00012
NM_000246.4(CIITA):c.2924A>G (p.Lys975Arg) rs140103491 0.00011
NM_000246.4(CIITA):c.1486C>T (p.Leu496Phe) rs756970534 0.00008
NM_000246.4(CIITA):c.2384G>A (p.Arg795Gln) rs553503699 0.00008
NM_000246.4(CIITA):c.3063-12G>T rs559875711 0.00005
NM_000246.4(CIITA):c.*23-7G>C rs4780336
NM_000246.4(CIITA):c.199+89C>T rs11074937
NM_000246.4(CIITA):c.2179G>C (p.Glu727Gln) rs548646642
NM_000246.4(CIITA):c.2816+14C>T rs191941806
NM_000246.4(CIITA):c.2970-74G>T rs6498130
NM_000246.4(CIITA):c.3062+14G>A rs370557976
NM_000246.4(CIITA):c.3062+14G>T rs370557976
NM_000246.4(CIITA):c.3149+10del rs1417667688
NM_000246.4(CIITA):c.3149+14del
NM_000246.4(CIITA):c.3233+8_3233+9del rs774399663
NM_000246.4(CIITA):c.3318-7del
NM_000246.4(CIITA):c.359-67T>G rs6498121
NM_000246.4(CIITA):c.494C>G (p.Thr165Ser) rs34648899
NM_000246.4(CIITA):c.531C>T (p.Ser177=) rs188055251
NM_000246.4(CIITA):c.772+12del rs766452566
NM_000246.4(CIITA):c.773-8del

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