ClinVar Miner

List of variants in gene TAPBP studied for MHC class I deficiency

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Gene type:
ClinVar version:
Total variants: 268
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HGVS dbSNP gnomAD frequency
NM_003190.5(TAPBP):c.779C>G (p.Thr260Arg) rs2071888 0.59589
NM_003190.5(TAPBP):c.-25T>A rs2239840 0.22922
NM_003190.5(TAPBP):c.-24C>A rs2239841 0.22909
NM_003190.5(TAPBP):c.972G>A (p.Gly324=) rs61739590 0.03495
NM_003190.5(TAPBP):c.1239C>T (p.Ser413=) rs34132052 0.03488
NM_003190.5(TAPBP):c.1252C>T (p.Leu418=) rs144706539 0.01237
NM_003190.5(TAPBP):c.1301-14A>G rs73741554 0.00881
NM_003190.5(TAPBP):c.1210+20C>T rs41266733 0.00718
NM_003190.5(TAPBP):c.175G>T (p.Asp59Tyr) rs45583737 0.00441
NM_003190.5(TAPBP):c.174G>T (p.Pro58=) rs45501592 0.00377
NM_003190.5(TAPBP):c.573C>T (p.Ala191=) rs34349100 0.00226
NM_003190.5(TAPBP):c.1234G>A (p.Asp412Asn) rs138516982 0.00200
NM_003190.5(TAPBP):c.623G>A (p.Arg208His) rs138273100 0.00135
NM_003190.5(TAPBP):c.103G>A (p.Gly35Arg) rs117394742 0.00080
NM_003190.5(TAPBP):c.998G>A (p.Arg333Gln) rs11549919 0.00079
NM_003190.5(TAPBP):c.161C>G (p.Pro54Arg) rs139155669 0.00073
NM_003190.5(TAPBP):c.1284G>A (p.Lys428=) rs148137345 0.00067
NM_003190.5(TAPBP):c.37+13C>G rs201502591 0.00065
NM_003190.5(TAPBP):c.563C>T (p.Thr188Ile) rs142455342 0.00047
NM_003190.5(TAPBP):c.556C>T (p.Pro186Ser) rs145952108 0.00044
NM_003190.5(TAPBP):c.590C>T (p.Pro197Leu) rs149606847 0.00043
NM_003190.5(TAPBP):c.681G>A (p.Gln227=) rs143453259 0.00036
NM_003190.5(TAPBP):c.753C>T (p.Thr251=) rs147684698 0.00033
NM_003190.5(TAPBP):c.574G>A (p.Ala192Thr) rs146216992 0.00031
NM_003190.5(TAPBP):c.974G>A (p.Gly325Asp) rs200280998 0.00029
NM_003190.5(TAPBP):c.1103C>T (p.Pro368Leu) rs139666009 0.00021
NM_003190.5(TAPBP):c.768C>T (p.Phe256=) rs145473025 0.00020
NM_003190.5(TAPBP):c.1029C>T (p.Ala343=) rs375869909 0.00016
NM_003190.5(TAPBP):c.876C>G (p.Pro292=) rs555796568 0.00016
NM_003190.5(TAPBP):c.1196C>A (p.Thr399Asn) rs372354865 0.00014
NM_003190.5(TAPBP):c.1228C>T (p.Leu410Phe) rs200685500 0.00011
NM_003190.5(TAPBP):c.619C>T (p.Arg207Ter) rs767195857 0.00010
NM_003190.5(TAPBP):c.1185C>T (p.Ser395=) rs369975343 0.00009
NM_003190.5(TAPBP):c.913G>A (p.Ala305Thr) rs199710908 0.00009
NM_003190.5(TAPBP):c.1069G>A (p.Asp357Asn) rs376210117 0.00007
NM_003190.5(TAPBP):c.997C>T (p.Arg333Trp) rs772349873 0.00007
NM_003190.5(TAPBP):c.1026G>A (p.Lys342=) rs201074090 0.00006
NM_003190.5(TAPBP):c.591G>A (p.Pro197=) rs200497341 0.00006
NM_003190.5(TAPBP):c.705C>T (p.Ala235=) rs146422093 0.00006
NM_003190.5(TAPBP):c.820C>T (p.His274Tyr) rs145571132 0.00006
NM_003190.5(TAPBP):c.172C>T (p.Pro58Ser) rs376978188 0.00005
NM_003190.5(TAPBP):c.213C>T (p.Pro71=) rs777682903 0.00005
NM_003190.5(TAPBP):c.576C>T (p.Ala192=) rs950808132 0.00005
NM_003190.5(TAPBP):c.737C>T (p.Pro246Leu) rs142416547 0.00005
NM_003190.5(TAPBP):c.1104G>A (p.Pro368=) rs780116309 0.00004
NM_003190.5(TAPBP):c.1128T>C (p.His376=) rs377366674 0.00004
NM_003190.5(TAPBP):c.38-18C>T rs762601324 0.00004
NM_003190.5(TAPBP):c.562A>T (p.Thr188Ser) rs561629511 0.00004
NM_003190.5(TAPBP):c.634G>A (p.Gly212Ser) rs371603958 0.00004
NM_003190.5(TAPBP):c.845del (p.Val282fs) rs765712832 0.00004
NM_003190.5(TAPBP):c.926C>A (p.Ala309Glu) rs772473192 0.00004
NM_003190.5(TAPBP):c.928C>T (p.Pro310Ser) rs750393786 0.00004
NM_003190.5(TAPBP):c.1049C>T (p.Ser350Leu) rs374308480 0.00003
NM_003190.5(TAPBP):c.1186G>A (p.Ala396Thr) rs375664511 0.00003
NM_003190.5(TAPBP):c.1297G>A (p.Ala433Thr) rs765383234 0.00003
NM_003190.5(TAPBP):c.203T>C (p.Val68Ala) rs759240284 0.00003
NM_003190.5(TAPBP):c.37+10C>G rs770222534 0.00003
NM_003190.5(TAPBP):c.464C>G (p.Ala155Gly) rs747106102 0.00003
NM_003190.5(TAPBP):c.568G>A (p.Glu190Lys) rs544121607 0.00003
NM_003190.5(TAPBP):c.631C>T (p.Leu211=) rs150471656 0.00003
NM_003190.5(TAPBP):c.796G>A (p.Glu266Lys) rs370619502 0.00003
NM_003190.5(TAPBP):c.933G>A (p.Pro311=) rs778870301 0.00003
NM_003190.5(TAPBP):c.1057C>T (p.Arg353Cys) rs529085934 0.00002
NM_003190.5(TAPBP):c.1143C>T (p.Ala381=) rs755761081 0.00002
NM_003190.5(TAPBP):c.1203G>A (p.Glu401=) rs981203752 0.00002
NM_003190.5(TAPBP):c.1300+8T>C rs966303595 0.00002
NM_003190.5(TAPBP):c.185C>T (p.Pro62Leu) rs758158568 0.00002
NM_003190.5(TAPBP):c.189G>C (p.Glu63Asp) rs752556005 0.00002
NM_003190.5(TAPBP):c.932C>T (p.Pro311Leu) rs767486136 0.00002
NM_003190.5(TAPBP):c.1001G>A (p.Gly334Asp) rs1022611517 0.00001
NM_003190.5(TAPBP):c.1014C>T (p.Gly338=) rs749398191 0.00001
NM_003190.5(TAPBP):c.1046T>C (p.Leu349Pro) rs1006835992 0.00001
NM_003190.5(TAPBP):c.1081A>C (p.Ser361Arg) rs1281620948 0.00001
NM_003190.5(TAPBP):c.1175C>T (p.Ser392Leu) rs576739119 0.00001
NM_003190.5(TAPBP):c.1211-6T>A rs188271218 0.00001
NM_003190.5(TAPBP):c.205C>T (p.His69Tyr) rs775934762 0.00001
NM_003190.5(TAPBP):c.21C>T (p.Leu7=) rs768367936 0.00001
NM_003190.5(TAPBP):c.269A>G (p.His90Arg) rs772919424 0.00001
NM_003190.5(TAPBP):c.333C>G (p.Pro111=) rs561857093 0.00001
NM_003190.5(TAPBP):c.342C>T (p.Asn114=) rs778522290 0.00001
NM_003190.5(TAPBP):c.344G>C (p.Cys115Ser) rs754776791 0.00001
NM_003190.5(TAPBP):c.426G>A (p.Gln142=) rs148601579 0.00001
NM_003190.5(TAPBP):c.449T>A (p.Val150Asp) rs1042952067 0.00001
NM_003190.5(TAPBP):c.469+8G>C rs200904092 0.00001
NM_003190.5(TAPBP):c.57A>C (p.Ser19=) rs778294391 0.00001
NM_003190.5(TAPBP):c.585G>A (p.Leu195=) rs554976419 0.00001
NM_003190.5(TAPBP):c.601C>T (p.Pro201Ser) rs776580678 0.00001
NM_003190.5(TAPBP):c.622C>T (p.Arg208Cys) rs746670734 0.00001
NM_003190.5(TAPBP):c.667G>C (p.Gly223Arg) rs756314269 0.00001
NM_003190.5(TAPBP):c.712T>C (p.Phe238Leu) rs1294107191 0.00001
NM_003190.5(TAPBP):c.758A>G (p.Asn253Ser) rs538568209 0.00001
NM_003190.5(TAPBP):c.799G>A (p.Gly267Ser) rs1248082629 0.00001
NM_003190.5(TAPBP):c.7T>A (p.Ser3Thr) rs553927768 0.00001
NM_003190.5(TAPBP):c.81T>A (p.Cys27Ter) rs754987188 0.00001
NM_003190.5(TAPBP):c.869-16C>T rs1479415145 0.00001
NM_003190.5(TAPBP):c.907C>T (p.Arg303Trp) rs747417254 0.00001
NM_003190.5(TAPBP):c.908G>A (p.Arg303Gln) rs185298453 0.00001
NM_003190.5(TAPBP):c.912C>T (p.Ala304=) rs1468182307 0.00001
NM_003190.5(TAPBP):c.948T>C (p.Leu316=) rs763682947 0.00001
NC_000006.11:g.(?_33269517)_(33269568_?)del
NC_000006.11:g.(?_33276773)_(33281550_?)del
NM_003190.5(TAPBP):c.1013G>A (p.Gly338Asp)
NM_003190.5(TAPBP):c.1016G>A (p.Arg339His)
NM_003190.5(TAPBP):c.1050G>A (p.Ser350=)
NM_003190.5(TAPBP):c.1052C>T (p.Ala351Val)
NM_003190.5(TAPBP):c.1058G>A (p.Arg353His)
NM_003190.5(TAPBP):c.1068C>T (p.Ser356=)
NM_003190.5(TAPBP):c.1069G>C (p.Asp357His)
NM_003190.5(TAPBP):c.108G>A (p.Lys36=)
NM_003190.5(TAPBP):c.1102C>G (p.Pro368Ala) rs774631452
NM_003190.5(TAPBP):c.1105C>T (p.Pro369Ser) rs1007511471
NM_003190.5(TAPBP):c.1135C>G (p.Arg379Gly) rs145933787
NM_003190.5(TAPBP):c.1135C>T (p.Arg379Cys)
NM_003190.5(TAPBP):c.1138T>C (p.Tyr380His) rs1768797475
NM_003190.5(TAPBP):c.113T>G (p.Leu38Arg)
NM_003190.5(TAPBP):c.1148G>A (p.Arg383Gln)
NM_003190.5(TAPBP):c.1164C>T (p.Ser388=)
NM_003190.5(TAPBP):c.1170T>C (p.Pro390=)
NM_003190.5(TAPBP):c.1172C>G (p.Ala391Gly)
NM_003190.5(TAPBP):c.1172C>T (p.Ala391Val)
NM_003190.5(TAPBP):c.1176G>A (p.Ser392=)
NM_003190.5(TAPBP):c.1180C>T (p.Arg394Cys) rs545499119
NM_003190.5(TAPBP):c.1181G>A (p.Arg394His) rs763198738
NM_003190.5(TAPBP):c.1183A>C (p.Ser395Arg)
NM_003190.5(TAPBP):c.1210+11G>A
NM_003190.5(TAPBP):c.1210+8C>T
NM_003190.5(TAPBP):c.1210G>A (p.Gly404Ser)
NM_003190.5(TAPBP):c.1214T>A (p.Leu405His) rs1768785371
NM_003190.5(TAPBP):c.1227C>T (p.Ser409=)
NM_003190.5(TAPBP):c.1248T>C (p.Leu416=) rs2150959869
NM_003190.5(TAPBP):c.1258G>A (p.Ala420Thr) rs1382572674
NM_003190.5(TAPBP):c.125C>T (p.Pro42Leu)
NM_003190.5(TAPBP):c.1268T>C (p.Leu423Pro) rs1768780166
NM_003190.5(TAPBP):c.1279T>C (p.Phe427Leu)
NM_003190.5(TAPBP):c.128G>A (p.Gly43Asp) rs2150975942
NM_003190.5(TAPBP):c.128_180delinsCCGGACCTCGACCCTGAGGTGGATA (p.Gly43_Leu60delinsAlaGlyProArgProTer)
NM_003190.5(TAPBP):c.1292G>C (p.Gly431Ala)
NM_003190.5(TAPBP):c.1300+11G>C
NM_003190.5(TAPBP):c.1300+17C>A
NM_003190.5(TAPBP):c.1300+3_1300+6del rs770150271
NM_003190.5(TAPBP):c.1301-5dup
NM_003190.5(TAPBP):c.1309C>T (p.Leu437=) rs1382973887
NM_003190.5(TAPBP):c.130_470-3608del
NM_003190.5(TAPBP):c.1314C>T (p.Ser438=) rs1768759818
NM_003190.5(TAPBP):c.1336-4C>A rs371464306
NM_003190.5(TAPBP):c.1345T>G (p.Ter449Gly)
NM_003190.5(TAPBP):c.135G>A (p.Leu45=)
NM_003190.5(TAPBP):c.136C>T (p.Leu46=)
NM_003190.5(TAPBP):c.141G>A (p.Leu47=)
NM_003190.5(TAPBP):c.143G>T (p.Arg48Leu) rs145263363
NM_003190.5(TAPBP):c.149G>A (p.Gly50Glu)
NM_003190.5(TAPBP):c.14C>T (p.Ser5Phe)
NM_003190.5(TAPBP):c.157G>A (p.Glu53Lys)
NM_003190.5(TAPBP):c.161C>T (p.Pro54Leu) rs139155669
NM_003190.5(TAPBP):c.162G>T (p.Pro54=)
NM_003190.5(TAPBP):c.163C>T (p.Pro55Ser)
NM_003190.5(TAPBP):c.165G>A (p.Pro55=)
NM_003190.5(TAPBP):c.166C>T (p.Pro56Ser) rs1035320527
NM_003190.5(TAPBP):c.166_169delinsG (p.Pro56_Arg57delinsGly) rs1004856880
NM_003190.5(TAPBP):c.168C>T (p.Pro56=)
NM_003190.5(TAPBP):c.169C>T (p.Arg57Trp)
NM_003190.5(TAPBP):c.173C>T (p.Pro58Leu)
NM_003190.5(TAPBP):c.174_175delinsTT (p.Asp59Tyr) rs1554279472
NM_003190.5(TAPBP):c.176A>C (p.Asp59Ala) rs1769553234
NM_003190.5(TAPBP):c.177C>T (p.Asp59=) rs1562701808
NM_003190.5(TAPBP):c.17T>C (p.Leu6Pro)
NM_003190.5(TAPBP):c.184C>G (p.Pro62Ala)
NM_003190.5(TAPBP):c.18_19delinsTT (p.Leu7Phe) rs2150976796
NM_003190.5(TAPBP):c.195T>G (p.Tyr65Ter)
NM_003190.5(TAPBP):c.198C>T (p.Leu66=)
NM_003190.5(TAPBP):c.209-3C>T
NM_003190.5(TAPBP):c.215C>G (p.Ala72Gly)
NM_003190.5(TAPBP):c.215C>T (p.Ala72Val) rs2150975029
NM_003190.5(TAPBP):c.241C>T (p.Arg81Trp)
NM_003190.5(TAPBP):c.245A>G (p.Tyr82Cys) rs1234932432
NM_003190.5(TAPBP):c.24C>T (p.Leu8=)
NM_003190.5(TAPBP):c.251G>A (p.Arg84Gln) rs1302409592
NM_003190.5(TAPBP):c.277A>G (p.Met93Val)
NM_003190.5(TAPBP):c.279G>A (p.Met93Ile)
NM_003190.5(TAPBP):c.282C>T (p.Ser94=)
NM_003190.5(TAPBP):c.287T>C (p.Phe96Ser)
NM_003190.5(TAPBP):c.289G>C (p.Val97Leu) rs1487703229
NM_003190.5(TAPBP):c.300C>T (p.Pro100=) rs2150974759
NM_003190.5(TAPBP):c.312del (p.Lys104fs) rs771157811
NM_003190.5(TAPBP):c.328A>T (p.Thr110Ser) rs2150974653
NM_003190.5(TAPBP):c.342C>G (p.Asn114Lys) rs778522290
NM_003190.5(TAPBP):c.348G>T (p.Pro116=) rs779747861
NM_003190.5(TAPBP):c.359A>G (p.Asp120Gly)
NM_003190.5(TAPBP):c.369G>A (p.Trp123Ter) rs1554279286
NM_003190.5(TAPBP):c.37+14G>A
NM_003190.5(TAPBP):c.37+16G>T
NM_003190.5(TAPBP):c.37+1G>A
NM_003190.5(TAPBP):c.372G>C (p.Leu124=)
NM_003190.5(TAPBP):c.373A>G (p.Met125Val) rs1260365536
NM_003190.5(TAPBP):c.375G>A (p.Met125Ile)
NM_003190.5(TAPBP):c.376G>A (p.Val126Ile)
NM_003190.5(TAPBP):c.379A>C (p.Ser127Arg) rs371858019
NM_003190.5(TAPBP):c.38-16C>T
NM_003190.5(TAPBP):c.389G>T (p.Ser130Ile)
NM_003190.5(TAPBP):c.39C>T (p.Gly13=)
NM_003190.5(TAPBP):c.3G>T (p.Met1Ile)
NM_003190.5(TAPBP):c.409A>G (p.Ser137Gly)
NM_003190.5(TAPBP):c.414C>T (p.Leu138=)
NM_003190.5(TAPBP):c.422C>G (p.Pro141Arg)
NM_003190.5(TAPBP):c.457A>C (p.Thr153Pro)
NM_003190.5(TAPBP):c.459C>T (p.Thr153=) rs2150974303
NM_003190.5(TAPBP):c.469+18G>A
NM_003190.5(TAPBP):c.475C>T (p.Leu159=)
NM_003190.5(TAPBP):c.481G>A (p.Val161Ile)
NM_003190.5(TAPBP):c.494C>G (p.Thr165Ser)
NM_003190.5(TAPBP):c.495C>T (p.Thr165=)
NM_003190.5(TAPBP):c.499G>A (p.Ala167Thr)
NM_003190.5(TAPBP):c.505C>T (p.Arg169Ter)
NM_003190.5(TAPBP):c.506G>T (p.Arg169Leu) rs768577222
NM_003190.5(TAPBP):c.532C>A (p.Leu178Met) rs2150962294
NM_003190.5(TAPBP):c.534G>A (p.Leu178=)
NM_003190.5(TAPBP):c.550T>C (p.Tyr184His)
NM_003190.5(TAPBP):c.558C>A (p.Pro186=)
NM_003190.5(TAPBP):c.561dup (p.Thr188fs) rs748799310
NM_003190.5(TAPBP):c.562A>G (p.Thr188Ala) rs561629511
NM_003190.5(TAPBP):c.567C>A (p.Ser189=) rs369452003
NM_003190.5(TAPBP):c.567C>T (p.Ser189=) rs369452003
NM_003190.5(TAPBP):c.569_591del (p.Glu190fs)
NM_003190.5(TAPBP):c.571G>A (p.Ala191Thr) rs1768904241
NM_003190.5(TAPBP):c.593G>A (p.Gly198Asp)
NM_003190.5(TAPBP):c.596C>T (p.Pro199Leu)
NM_003190.5(TAPBP):c.59C>T (p.Ala20Val)
NM_003190.5(TAPBP):c.620G>A (p.Arg207Gln)
NM_003190.5(TAPBP):c.655del (p.Ala219fs)
NM_003190.5(TAPBP):c.657T>A (p.Ala219=)
NM_003190.5(TAPBP):c.657T>G (p.Ala219=)
NM_003190.5(TAPBP):c.68C>T (p.Ala23Val) rs1769577639
NM_003190.5(TAPBP):c.698A>C (p.Glu233Ala)
NM_003190.5(TAPBP):c.706G>A (p.Val236Met)
NM_003190.5(TAPBP):c.719C>T (p.Ala240Val)
NM_003190.5(TAPBP):c.71T>C (p.Val24Ala) rs2150976134
NM_003190.5(TAPBP):c.726TGA[2] (p.Asp244del) rs1458653846
NM_003190.5(TAPBP):c.73A>G (p.Ile25Val)
NM_003190.5(TAPBP):c.747A>T (p.Pro249=) rs2150961711
NM_003190.5(TAPBP):c.748T>C (p.Trp250Arg)
NM_003190.5(TAPBP):c.763_773dup (p.Thr260fs) rs2150961648
NM_003190.5(TAPBP):c.772C>T (p.Leu258=)
NM_003190.5(TAPBP):c.776C>T (p.Pro259Leu)
NM_003190.5(TAPBP):c.778_779delinsGG (p.Thr260Gly)
NM_003190.5(TAPBP):c.804C>T (p.Thr268=)
NM_003190.5(TAPBP):c.819A>G (p.Ile273Met)
NM_003190.5(TAPBP):c.839G>A (p.Gly280Glu) rs1768871055
NM_003190.5(TAPBP):c.844G>T (p.Val282Phe) rs2150961490
NM_003190.5(TAPBP):c.850C>T (p.Leu284=)
NM_003190.5(TAPBP):c.859G>A (p.Ala287Thr)
NM_003190.5(TAPBP):c.867_868del (p.Tyr289_Lys290delinsTer) rs1301955419
NM_003190.5(TAPBP):c.868+11G>A
NM_003190.5(TAPBP):c.868+1G>A rs1350625021
NM_003190.5(TAPBP):c.869-12C>T
NM_003190.5(TAPBP):c.869-15G>A
NM_003190.5(TAPBP):c.869delA (p.Lys290fs)
NM_003190.5(TAPBP):c.870A>C (p.Lys290Asn)
NM_003190.5(TAPBP):c.872C>A (p.Pro291His) rs1462974353
NM_003190.5(TAPBP):c.934_935delinsTT (p.Glu312Leu) rs2150960747
NM_003190.5(TAPBP):c.935A>G (p.Glu312Gly)
NM_003190.5(TAPBP):c.946C>T (p.Leu316Phe)
NM_003190.5(TAPBP):c.949G>A (p.Val317Met)
NM_003190.5(TAPBP):c.94del (p.Asp32fs)
NM_003190.5(TAPBP):c.969T>C (p.Ser323=)
NM_003190.5(TAPBP):c.975C>G (p.Gly325=)
NM_003190.5(TAPBP):c.989G>C (p.Trp330Ser)
NM_003190.5(TAPBP):c.98C>G (p.Ala33Gly) rs368154041
NM_003190.5(TAPBP):c.98C>T (p.Ala33Val)

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