ClinVar Miner

List of variants reported as uncertain significance for MHC class II deficiency by Natera, Inc.

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ClinVar version:
Total variants: 162
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HGVS dbSNP gnomAD frequency
NM_000246.4(CIITA):c.460G>A (p.Asp154Asn) rs76923280 0.00106
NM_000246.4(CIITA):c.712C>T (p.His238Tyr) rs150307400 0.00054
NM_000246.4(CIITA):c.286G>A (p.Ala96Thr) rs149253747 0.00049
NM_000246.4(CIITA):c.1591G>A (p.Gly531Ser) rs144646271 0.00042
NM_000246.4(CIITA):c.2620G>T (p.Gly874Trp) rs113889330 0.00031
NM_000246.4(CIITA):c.3344G>A (p.Ser1115Asn) rs138790505 0.00029
NM_000246.4(CIITA):c.1720G>T (p.Ala574Ser) rs148543906 0.00021
NM_000246.4(CIITA):c.487C>A (p.Pro163Thr) rs555184617 0.00021
NM_000246.4(CIITA):c.2674A>G (p.Thr892Ala) rs139200062 0.00016
NM_000246.4(CIITA):c.1231C>T (p.Arg411Cys) rs201966261 0.00014
NM_000246.4(CIITA):c.614C>A (p.Thr205Asn) rs200545141 0.00014
NM_000246.4(CIITA):c.1148C>A (p.Ala383Asp) rs763945523 0.00012
NM_000246.4(CIITA):c.1908G>A (p.Thr636=) rs200398959 0.00012
NM_000246.4(CIITA):c.294C>T (p.Ile98=) rs200299817 0.00012
NM_000246.4(CIITA):c.2028G>C (p.Gln676His) rs112852440 0.00011
NM_000246.4(CIITA):c.3109G>A (p.Glu1037Lys) rs552040932 0.00011
NM_000246.4(CIITA):c.352A>G (p.Ile118Val) rs142443082 0.00011
NM_000246.4(CIITA):c.1010C>T (p.Pro337Leu) rs147670132 0.00010
NM_000246.4(CIITA):c.1225C>T (p.Arg409Trp) rs137895901 0.00010
NM_000246.4(CIITA):c.1545C>T (p.Cys515=) rs200146904 0.00010
NM_000246.4(CIITA):c.2059A>G (p.Thr687Ala) rs201080914 0.00009
NM_000246.4(CIITA):c.1683C>T (p.Asp561=) rs76686583 0.00007
NM_000246.4(CIITA):c.1731C>T (p.Tyr577=) rs142848848 0.00007
NM_000246.4(CIITA):c.2098C>T (p.Arg700Trp) rs770284013 0.00007
NM_000246.4(CIITA):c.20G>A (p.Arg7His) rs374703179 0.00007
NM_000246.4(CIITA):c.2758T>C (p.Phe920Leu) rs570003993 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.1643G>A (p.Arg548Gln) rs376916824 0.00006
NM_000246.4(CIITA):c.1802G>A (p.Arg601Gln) rs753947354 0.00006
NM_000246.4(CIITA):c.19C>T (p.Arg7Cys) rs202176090 0.00006
NM_000246.4(CIITA):c.2832G>A (p.Ser944=) rs766538754 0.00006
NM_000246.4(CIITA):c.2979G>A (p.Ala993=) rs142031278 0.00006
NM_000246.4(CIITA):c.3029C>T (p.Thr1010Ile) rs779295530 0.00006
NM_000246.4(CIITA):c.3197G>A (p.Arg1066His) rs142072017 0.00006
NM_000246.4(CIITA):c.44A>G (p.Glu15Gly) rs572170388 0.00006
NM_000246.4(CIITA):c.455C>T (p.Pro152Leu) rs774695473 0.00006
NM_000246.4(CIITA):c.5G>A (p.Arg2His) rs755048657 0.00006
NM_000246.4(CIITA):c.772+5G>T rs376221650 0.00006
NM_000246.4(CIITA):c.2006G>A (p.Arg669His) rs745446439 0.00005
NM_000246.4(CIITA):c.1138C>G (p.Arg380Gly) rs750567359 0.00004
NM_000246.4(CIITA):c.1322G>A (p.Arg441Gln) rs201662987 0.00004
NM_000246.4(CIITA):c.1480G>A (p.Val494Ile) rs150888938 0.00004
NM_000246.4(CIITA):c.1556C>T (p.Pro519Leu) rs141006925 0.00004
NM_000246.4(CIITA):c.1559C>T (p.Ala520Val) rs561841137 0.00004
NM_000246.4(CIITA):c.1702G>A (p.Gly568Ser) rs749343874 0.00004
NM_000246.4(CIITA):c.2099G>A (p.Arg700Gln) rs749350138 0.00004
NM_000246.4(CIITA):c.2109G>T (p.Glu703Asp) rs915701076 0.00004
NM_000246.4(CIITA):c.2184C>G (p.Ile728Met) rs746167072 0.00004
NM_000246.4(CIITA):c.2192A>G (p.Lys731Arg) rs372853839 0.00004
NM_000246.4(CIITA):c.2617T>C (p.Leu873=) rs368233530 0.00004
NM_000246.4(CIITA):c.2933G>A (p.Arg978Gln) rs546498273 0.00004
NM_000246.4(CIITA):c.3052G>A (p.Glu1018Lys) rs747047617 0.00004
NM_000246.4(CIITA):c.326C>G (p.Ser109Cys) rs375019139 0.00004
NM_000246.4(CIITA):c.1416G>A (p.Leu472=) rs757999354 0.00003
NM_000246.4(CIITA):c.1577G>A (p.Arg526Gln) rs200240463 0.00003
NM_000246.4(CIITA):c.1579G>C (p.Gly527Arg) rs35451230 0.00003
NM_000246.4(CIITA):c.1814T>G (p.Leu605Arg) rs1482462500 0.00003
NM_000246.4(CIITA):c.2066C>T (p.Ala689Val) rs144027273 0.00003
NM_000246.4(CIITA):c.2096C>T (p.Pro699Leu) rs369787912 0.00003
NM_000246.4(CIITA):c.2691G>T (p.Glu897Asp) rs764994021 0.00003
NM_000246.4(CIITA):c.3014C>G (p.Ser1005Trp) rs759385748 0.00003
NM_000246.4(CIITA):c.3217T>A (p.Ser1073Thr) rs761139192 0.00003
NM_000246.4(CIITA):c.565G>A (p.Ala189Thr) rs370429955 0.00003
NM_000246.4(CIITA):c.772+9G>A rs750572482 0.00003
NM_000246.4(CIITA):c.948G>A (p.Thr316=) rs369971838 0.00003
NM_000246.4(CIITA):c.1436C>T (p.Ala479Val) rs901729238 0.00002
NM_000246.4(CIITA):c.1527C>T (p.Gly509=) rs1427227633 0.00002
NM_000246.4(CIITA):c.2343G>A (p.Ser781=) rs749019138 0.00002
NM_000246.4(CIITA):c.2536C>T (p.His846Tyr) rs769472311 0.00002
NM_000246.4(CIITA):c.2864G>A (p.Arg955Gln) rs202244966 0.00002
NM_000246.4(CIITA):c.2978C>T (p.Ala993Val) rs547505584 0.00002
NM_000246.4(CIITA):c.3207G>A (p.Pro1069=) rs772387879 0.00002
NM_000246.4(CIITA):c.626C>T (p.Pro209Leu) rs368326813 0.00002
NM_000246.4(CIITA):c.947C>T (p.Thr316Met) rs757632931 0.00002
NM_000246.4(CIITA):c.-4C>T rs763404027 0.00001
NM_000246.4(CIITA):c.1043C>T (p.Thr348Met) rs757559019 0.00001
NM_000246.4(CIITA):c.1054G>A (p.Glu352Lys) rs752576726 0.00001
NM_000246.4(CIITA):c.1097T>C (p.Val366Ala) rs539096456 0.00001
NM_000246.4(CIITA):c.1149C>T (p.Ala383=) rs748867171 0.00001
NM_000246.4(CIITA):c.1183G>A (p.Gly395Arg) rs953080654 0.00001
NM_000246.4(CIITA):c.1304G>A (p.Arg435Gln) rs756879407 0.00001
NM_000246.4(CIITA):c.1327C>T (p.Pro443Ser) rs1465699067 0.00001
NM_000246.4(CIITA):c.1444G>A (p.Glu482Lys) rs772224355 0.00001
NM_000246.4(CIITA):c.1550C>A (p.Pro517Gln) rs765687423 0.00001
NM_000246.4(CIITA):c.170C>A (p.Ala57Asp) rs1555500356 0.00001
NM_000246.4(CIITA):c.1732G>A (p.Val578Met) rs151195889 0.00001
NM_000246.4(CIITA):c.1795C>T (p.Arg599Trp) rs375045681 0.00001
NM_000246.4(CIITA):c.1856A>G (p.Gln619Arg) rs371603520 0.00001
NM_000246.4(CIITA):c.1939C>T (p.Arg647Cys) rs372705496 0.00001
NM_000246.4(CIITA):c.1940G>A (p.Arg647His) rs757021053 0.00001
NM_000246.4(CIITA):c.200-9T>C rs778238111 0.00001
NM_000246.4(CIITA):c.2135T>C (p.Leu712Pro) rs1271532108 0.00001
NM_000246.4(CIITA):c.2256G>A (p.Glu752=) rs200577013 0.00001
NM_000246.4(CIITA):c.2267G>A (p.Arg756His) rs1248790122 0.00001
NM_000246.4(CIITA):c.2324G>A (p.Gly775Glu) rs764376470 0.00001
NM_000246.4(CIITA):c.2356C>A (p.Gln786Lys) rs199476072 0.00001
NM_000246.4(CIITA):c.2494C>G (p.Arg832Gly) rs778521786 0.00001
NM_000246.4(CIITA):c.2539G>A (p.Val847Ile) rs181710482 0.00001
NM_000246.4(CIITA):c.2564C>T (p.Ala855Val) rs760864976 0.00001
NM_000246.4(CIITA):c.2773C>G (p.Leu925Val) rs1193901367 0.00001
NM_000246.4(CIITA):c.2831C>T (p.Ser944Leu) rs750740701 0.00001
NM_000246.4(CIITA):c.2899G>T (p.Val967Phe) rs201571405 0.00001
NM_000246.4(CIITA):c.2994G>A (p.Lys998=) rs1286058878 0.00001
NM_000246.4(CIITA):c.3004G>A (p.Glu1002Lys) rs762687010 0.00001
NM_000246.4(CIITA):c.3088C>T (p.Leu1030=) rs763766993 0.00001
NM_000246.4(CIITA):c.3233+7G>A rs765558693 0.00001
NM_000246.4(CIITA):c.3311C>T (p.Thr1104Met) rs367805896 0.00001
NM_000246.4(CIITA):c.404C>T (p.Pro135Leu) rs757017931 0.00001
NM_000246.4(CIITA):c.436+9del rs1567398077 0.00001
NM_000246.4(CIITA):c.482C>G (p.Ala161Gly) rs763457920 0.00001
NM_000246.4(CIITA):c.566C>T (p.Ala189Val) rs149076617 0.00001
NM_000246.4(CIITA):c.709C>G (p.Pro237Ala) rs2038871532 0.00001
NM_000246.4(CIITA):c.758T>C (p.Ile253Thr) rs761152169 0.00001
NM_000246.4(CIITA):c.803C>T (p.Pro268Leu) rs1158727564 0.00001
NM_000246.4(CIITA):c.847C>T (p.Arg283Trp) rs556369319 0.00001
NM_000246.4(CIITA):c.1006+3G>A rs980367583
NM_000246.4(CIITA):c.1010C>A (p.Pro337Gln) rs147670132
NM_000246.4(CIITA):c.1028G>T (p.Arg343Leu) rs765940448
NM_000246.4(CIITA):c.1044G>T (p.Thr348=) rs140683241
NM_000246.4(CIITA):c.1076T>C (p.Ile359Thr) rs2039171653
NM_000246.4(CIITA):c.1168C>T (p.Arg390Trp) rs182369772
NM_000246.4(CIITA):c.1220A>G (p.His407Arg) rs2144700429
NM_000246.4(CIITA):c.1720G>A (p.Ala574Thr) rs148543906
NM_000246.4(CIITA):c.174A>T (p.Gly58=) rs759412177
NM_000246.4(CIITA):c.174AGA[2] (p.Glu61del) rs2038022645
NM_000246.4(CIITA):c.1765G>A (p.Glu589Lys) rs2039233689
NM_000246.4(CIITA):c.1801C>G (p.Arg601Gly) rs569634954
NM_000246.4(CIITA):c.1844G>A (p.Arg615Gln) rs769140062
NM_000246.4(CIITA):c.1963G>C (p.Gly655Arg) rs919087827
NM_000246.4(CIITA):c.199+6C>T rs778670190
NM_000246.4(CIITA):c.2053G>T (p.Val685Leu) rs148144155
NM_000246.4(CIITA):c.2078G>A (p.Gly693Asp) rs146380734
NM_000246.4(CIITA):c.2113G>A (p.Glu705Lys) rs143304499
NM_000246.4(CIITA):c.2113G>C (p.Glu705Gln) rs143304499
NM_000246.4(CIITA):c.2142A>G (p.Gln714=) rs188988714
NM_000246.4(CIITA):c.2179G>A (p.Glu727Lys) rs548646642
NM_000246.4(CIITA):c.2237C>T (p.Pro746Leu) rs374855163
NM_000246.4(CIITA):c.2259C>T (p.Gly753=) rs754313400
NM_000246.4(CIITA):c.2260G>A (p.Val754Met) rs757699642
NM_000246.4(CIITA):c.2331G>A (p.Ser777=) rs34685848
NM_000246.4(CIITA):c.2522C>G (p.Thr841Arg) rs1159888268
NM_000246.4(CIITA):c.2658-10C>T rs1337213724
NM_000246.4(CIITA):c.2734G>A (p.Glu912Lys) rs2039379898
NM_000246.4(CIITA):c.2830T>C (p.Ser944Pro) rs2039465103
NM_000246.4(CIITA):c.2889-9G>T rs1021930842
NM_000246.4(CIITA):c.3008G>T (p.Gly1003Val) rs766239596
NM_000246.4(CIITA):c.3106G>T (p.Ala1036Ser) rs775994032
NM_000246.4(CIITA):c.3261C>G (p.Ala1087=) rs149640268
NM_000246.4(CIITA):c.331C>A (p.Leu111Met) rs368329679
NM_000246.4(CIITA):c.412G>T (p.Val138Phe) rs2038427463
NM_000246.4(CIITA):c.436+3G>C rs2038430186
NM_000246.4(CIITA):c.494C>A (p.Thr165Asn) rs34648899
NM_000246.4(CIITA):c.534C>A (p.Asp178Glu) rs2038813457
NM_000246.4(CIITA):c.567G>C (p.Ala189=) rs143123121
NM_000246.4(CIITA):c.607G>A (p.Glu203Lys) rs529296576
NM_000246.4(CIITA):c.616G>T (p.Asp206Tyr) rs771338224
NM_000246.4(CIITA):c.628+4T>A rs2038824184
NM_000246.4(CIITA):c.649T>C (p.Leu217=) rs773897183
NM_000246.4(CIITA):c.789C>G (p.Ala263=) rs2038944749
NM_000246.4(CIITA):c.791G>A (p.Ser264Asn) rs2038944863
NM_000246.4(CIITA):c.979G>A (p.Val327Ile) rs148597952

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