ClinVar Miner

List of variants reported as uncertain significance for MHC class II deficiency by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 184
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HGVS dbSNP
NM_000246.3(CIITA):c.1010C>T (p.Pro337Leu)
NM_000246.3(CIITA):c.1028G>T (p.Arg343Leu)
NM_000246.3(CIITA):c.109C>A (p.Leu37Ile)
NM_000246.3(CIITA):c.1130G>C (p.Ser377Thr)
NM_000246.3(CIITA):c.1183G>A (p.Gly395Arg) rs953080654
NM_000246.3(CIITA):c.1225C>T (p.Arg409Trp)
NM_000246.3(CIITA):c.1231C>T (p.Arg411Cys)
NM_000246.3(CIITA):c.1241G>T (p.Arg414Leu) rs572327540
NM_000246.3(CIITA):c.1304G>A (p.Arg435Gln) rs756879407
NM_000246.3(CIITA):c.1416G>A (p.Leu472=)
NM_000246.3(CIITA):c.1444G>A (p.Glu482Lys) rs772224355
NM_000246.3(CIITA):c.1498G>A (p.Gly500Ser)
NM_000246.3(CIITA):c.14C>G (p.Ala5Gly)
NM_000246.3(CIITA):c.1556C>T (p.Pro519Leu) rs141006925
NM_000246.3(CIITA):c.1558G>T (p.Ala520Ser)
NM_000246.3(CIITA):c.1559C>T (p.Ala520Val) rs561841137
NM_000246.3(CIITA):c.1577G>A (p.Arg526Gln)
NM_000246.3(CIITA):c.1579G>C (p.Gly527Arg) rs35451230
NM_000246.3(CIITA):c.1591G>A (p.Gly531Ser)
NM_000246.3(CIITA):c.1643G>A (p.Arg548Gln)
NM_000246.3(CIITA):c.1643G>T (p.Arg548Leu) rs376916824
NM_000246.3(CIITA):c.1684G>A (p.Ala562Thr) rs199476070
NM_000246.3(CIITA):c.1702G>A (p.Gly568Ser) rs749343874
NM_000246.3(CIITA):c.170C>A (p.Ala57Asp) rs1555500356
NM_000246.3(CIITA):c.1720G>A (p.Ala574Thr)
NM_000246.3(CIITA):c.1732G>A (p.Val578Met)
NM_000246.3(CIITA):c.1795C>T (p.Arg599Trp)
NM_000246.3(CIITA):c.1814T>G (p.Leu605Arg)
NM_000246.3(CIITA):c.1834A>G (p.Thr612Ala)
NM_000246.3(CIITA):c.1844G>A (p.Arg615Gln)
NM_000246.3(CIITA):c.1856A>G (p.Gln619Arg) rs371603520
NM_000246.3(CIITA):c.1940G>A (p.Arg647His)
NM_000246.3(CIITA):c.1957C>A (p.Pro653Thr) rs199476071
NM_000246.3(CIITA):c.2006G>A (p.Arg669His)
NM_000246.3(CIITA):c.2028G>C (p.Gln676His)
NM_000246.3(CIITA):c.2059A>G (p.Thr687Ala) rs201080914
NM_000246.3(CIITA):c.2098C>T (p.Arg700Trp)
NM_000246.3(CIITA):c.2099G>A (p.Arg700Gln) rs749350138
NM_000246.3(CIITA):c.20G>A (p.Arg7His)
NM_000246.3(CIITA):c.2104G>A (p.Ala702Thr)
NM_000246.3(CIITA):c.2135T>C (p.Leu712Pro)
NM_000246.3(CIITA):c.2142A>G (p.Gln714=)
NM_000246.3(CIITA):c.2184C>G (p.Ile728Met)
NM_000246.3(CIITA):c.2331G>A (p.Ser777=)
NM_000246.3(CIITA):c.2343G>A (p.Ser781=) rs749019138
NM_000246.3(CIITA):c.2348A>C (p.Asp783Ala)
NM_000246.3(CIITA):c.2356C>A (p.Gln786Lys) rs199476072
NM_000246.3(CIITA):c.2405G>A (p.Arg802Gln) rs201182990
NM_000246.3(CIITA):c.2494C>G (p.Arg832Gly)
NM_000246.3(CIITA):c.2536C>T (p.His846Tyr)
NM_000246.3(CIITA):c.2539G>A (p.Val847Ile)
NM_000246.3(CIITA):c.2544G>A (p.Leu848=) rs1567423502
NM_000246.3(CIITA):c.2551G>A (p.Ala851Thr)
NM_000246.3(CIITA):c.2576T>G (p.Phe859Cys)
NM_000246.3(CIITA):c.2657+4G>A
NM_000246.3(CIITA):c.2674A>G (p.Thr892Ala)
NM_000246.3(CIITA):c.2691G>T (p.Glu897Asp)
NM_000246.3(CIITA):c.2698_2699inv (p.Gln900Trp)
NM_000246.3(CIITA):c.2758T>C (p.Phe920Leu)
NM_000246.3(CIITA):c.2819C>T (p.Thr940Met)
NM_000246.3(CIITA):c.2864G>A (p.Arg955Gln)
NM_000246.3(CIITA):c.286G>A (p.Ala96Thr) rs149253747
NM_000246.3(CIITA):c.2899G>T (p.Val967Phe)
NM_000246.3(CIITA):c.2942C>T (p.Thr981Met) rs369744959
NM_000246.3(CIITA):c.2978C>T (p.Ala993Val)
NM_000246.3(CIITA):c.3025_3026delinsAA (p.Ala1009Asn)
NM_000246.3(CIITA):c.307C>A (p.Gln103Lys) rs371519540
NM_000246.3(CIITA):c.3175G>A (p.Val1059Met)
NM_000246.3(CIITA):c.3217T>A (p.Ser1073Thr) rs761139192
NM_000246.3(CIITA):c.3311C>T (p.Thr1104Met) rs367805896
NM_000246.3(CIITA):c.3326C>G (p.Thr1109Arg) rs1013962316
NM_000246.3(CIITA):c.3344G>A (p.Ser1115Asn) rs138790505
NM_000246.3(CIITA):c.3352G>A (p.Glu1118Lys) rs1555509348
NM_000246.3(CIITA):c.3377G>A (p.Arg1126Gln)
NM_000246.3(CIITA):c.352A>G (p.Ile118Val)
NM_000246.3(CIITA):c.386G>A (p.Gly129Asp)
NM_000246.3(CIITA):c.38T>C (p.Leu13Pro)
NM_000246.3(CIITA):c.413T>C (p.Val138Ala) rs142469968
NM_000246.3(CIITA):c.44A>G (p.Glu15Gly) rs572170388
NM_000246.3(CIITA):c.455C>T (p.Pro152Leu)
NM_000246.3(CIITA):c.487C>A (p.Pro163Thr)
NM_000246.3(CIITA):c.494C>T (p.Thr165Ile)
NM_000246.3(CIITA):c.544C>A (p.Leu182Met)
NM_000246.3(CIITA):c.565G>A (p.Ala189Thr) rs370429955
NM_000246.3(CIITA):c.566C>T (p.Ala189Val) rs149076617
NM_000246.3(CIITA):c.5G>A (p.Arg2His)
NM_000246.3(CIITA):c.602G>A (p.Arg201His)
NM_000246.3(CIITA):c.773-9C>G rs756972663
NM_000246.3(CIITA):c.78G>C (p.Glu26Asp)
NM_000246.3(CIITA):c.826G>A (p.Gly276Ser) rs142461515
NM_000246.3(CIITA):c.835A>G (p.Thr279Ala)
NM_000246.3(CIITA):c.898A>C (p.Met300Leu)
NM_000246.3(CIITA):c.947C>T (p.Thr316Met)
NM_000246.3(CIITA):c.970G>T (p.Ala324Ser)
NM_000246.3(CIITA):c.979G>A (p.Val327Ile)
NM_000449.3(RFX5):c.1020_1022dup (p.Ile341dup)
NM_000449.3(RFX5):c.1037T>A (p.Val346Asp)
NM_000449.3(RFX5):c.1039T>C (p.Ser347Pro) rs199761884
NM_000449.3(RFX5):c.1114G>C (p.Gly372Arg)
NM_000449.3(RFX5):c.1150A>T (p.Ile384Phe)
NM_000449.3(RFX5):c.1322C>G (p.Ala441Gly)
NM_000449.3(RFX5):c.1393A>C (p.Lys465Gln)
NM_000449.3(RFX5):c.1406C>T (p.Pro469Leu)
NM_000449.3(RFX5):c.1409G>A (p.Arg470Gln) rs138131380
NM_000449.3(RFX5):c.1415A>T (p.Lys472Met) rs1265793800
NM_000449.3(RFX5):c.1510G>A (p.Gly504Ser)
NM_000449.3(RFX5):c.1639G>A (p.Gly547Ser) rs147579805
NM_000449.3(RFX5):c.1688C>T (p.Ser563Leu) rs150072792
NM_000449.3(RFX5):c.1805G>A (p.Ser602Asn) rs371115213
NM_000449.3(RFX5):c.1838del (p.Ala613fs) rs1557829420
NM_000449.3(RFX5):c.40G>A (p.Gly14Arg) rs143245407
NM_000449.3(RFX5):c.415A>G (p.Ile139Val) rs1363432272
NM_000449.3(RFX5):c.446G>A (p.Arg149Gln) rs137853099
NM_000449.3(RFX5):c.547T>C (p.Ser183Pro) rs192832486
NM_000449.3(RFX5):c.778C>T (p.Arg260Trp)
NM_000449.3(RFX5):c.803A>G (p.Asn268Ser)
NM_000449.3(RFX5):c.892G>A (p.Gly298Ser) rs146341254
NM_000449.3(RFX5):c.938C>T (p.Ser313Leu) rs140885618
NM_000538.3(RFXAP):c.129A>G (p.Gln43=)
NM_000538.3(RFXAP):c.14G>T (p.Gly5Val)
NM_000538.3(RFXAP):c.192C>G (p.Ser64Arg) rs758076793
NM_000538.3(RFXAP):c.236G>A (p.Gly79Glu)
NM_000538.3(RFXAP):c.265G>C (p.Glu89Gln) rs1290515755
NM_000538.3(RFXAP):c.302G>C (p.Gly101Ala) rs1474685587
NM_000538.3(RFXAP):c.343G>A (p.Glu115Lys)
NM_000538.3(RFXAP):c.455A>G (p.Gln152Arg)
NM_000538.3(RFXAP):c.456G>C (p.Gln152His) rs201926069
NM_000538.3(RFXAP):c.467A>G (p.Gln156Arg) rs1566318990
NM_000538.3(RFXAP):c.503A>G (p.Lys168Arg)
NM_000538.3(RFXAP):c.573T>A (p.Thr191=) rs200198351
NM_000538.3(RFXAP):c.58C>T (p.His20Tyr) rs1555302467
NM_000538.3(RFXAP):c.59A>G (p.His20Arg)
NM_000538.3(RFXAP):c.709-7_709-4del rs749945016
NM_000538.3(RFXAP):c.788G>A (p.Arg263Lys) rs144169233
NM_000538.3(RFXAP):c.814A>G (p.Met272Val)
NM_000538.4(RFXAP):c.150A>T (p.Gln50His)
NM_000538.4(RFXAP):c.175G>A (p.Ala59Thr)
NM_000538.4(RFXAP):c.204C>T (p.Gly68=)
NM_000538.4(RFXAP):c.232G>C (p.Ala78Pro)
NM_000538.4(RFXAP):c.279A>C (p.Leu93Phe)
NM_000538.4(RFXAP):c.298G>C (p.Gly100Arg)
NM_000538.4(RFXAP):c.353C>T (p.Ser118Leu)
NM_001025603.2(RFX5):c.1004G>A (p.Arg335Gln)
NM_001025603.2(RFX5):c.1030A>G (p.Ile344Val)
NM_001025603.2(RFX5):c.10G>A (p.Asp4Asn)
NM_001025603.2(RFX5):c.1159A>G (p.Thr387Ala)
NM_001025603.2(RFX5):c.1201G>A (p.Ala401Thr)
NM_001025603.2(RFX5):c.1202C>T (p.Ala401Val)
NM_001025603.2(RFX5):c.1490G>C (p.Arg497Thr)
NM_001025603.2(RFX5):c.1673T>C (p.Ile558Thr)
NM_001025603.2(RFX5):c.1690A>G (p.Lys564Glu)
NM_001025603.2(RFX5):c.382C>T (p.Arg128Cys)
NM_001025603.2(RFX5):c.514A>G (p.Met172Val)
NM_001025603.2(RFX5):c.785G>A (p.Arg262Gln)
NM_001025603.2(RFX5):c.833A>T (p.His278Leu)
NM_001025603.2(RFX5):c.851T>C (p.Leu284Pro)
NM_001025603.2(RFX5):c.901G>A (p.Ala301Thr)
NM_003721.4(RFXANK):c.155C>T (p.Pro52Leu)
NM_003721.4(RFXANK):c.187G>A (p.Ala63Thr) rs150525759
NM_003721.4(RFXANK):c.191G>T (p.Gly64Val)
NM_003721.4(RFXANK):c.226C>T (p.Arg76Trp)
NM_003721.4(RFXANK):c.233G>A (p.Arg78Gln)
NM_003721.4(RFXANK):c.241G>A (p.Glu81Lys)
NM_003721.4(RFXANK):c.257C>T (p.Pro86Leu)
NM_003721.4(RFXANK):c.266_268del (p.Leu89_Asp90delinsHis) rs1568578747
NM_003721.4(RFXANK):c.292G>A (p.Ala98Thr)
NM_003721.4(RFXANK):c.331C>T (p.Arg111Trp) rs764895631
NM_003721.4(RFXANK):c.332G>A (p.Arg111Gln) rs752109217
NM_003721.4(RFXANK):c.337+5G>A rs752168879
NM_003721.4(RFXANK):c.438+4C>T
NM_003721.4(RFXANK):c.438+5G>A
NM_003721.4(RFXANK):c.478G>A (p.Ala160Thr)
NM_003721.4(RFXANK):c.49C>G (p.Pro17Ala)
NM_003721.4(RFXANK):c.533A>C (p.Glu178Ala)
NM_003721.4(RFXANK):c.595C>T (p.Arg199Cys)
NM_003721.4(RFXANK):c.598G>A (p.Gly200Arg)
NM_003721.4(RFXANK):c.602A>T (p.Asn201Ile)
NM_003721.4(RFXANK):c.612A>G (p.Lys204=) rs201676379
NM_003721.4(RFXANK):c.623C>T (p.Ala208Val) rs140748502
NM_003721.4(RFXANK):c.706C>T (p.Arg236Trp) rs143964319
NM_003721.4(RFXANK):c.726C>G (p.Ile242Met) rs200043123
NM_003721.4(RFXANK):c.754A>G (p.Ser252Gly)
NM_003721.4(RFXANK):c.766C>T (p.Pro256Ser)
NM_003721.4(RFXANK):c.778G>A (p.Glu260Lys)

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