ClinVar Miner

List of variants in gene TAPBP reported as uncertain significance for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 161
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HGVS dbSNP gnomAD frequency
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.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.1196C>A (p.Thr399Asn) rs372354865 0.00014
NM_003190.5(TAPBP):c.619C>T (p.Arg207Ter) rs767195857 0.00010
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.591G>A (p.Pro197=) rs200497341 0.00006
NM_003190.5(TAPBP):c.820C>T (p.His274Tyr) rs145571132 0.00006
NM_003190.5(TAPBP):c.737C>T (p.Pro246Leu) rs142416547 0.00005
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.464C>G (p.Ala155Gly) rs747106102 0.00003
NM_003190.5(TAPBP):c.568G>A (p.Glu190Lys) rs544121607 0.00003
NM_003190.5(TAPBP):c.796G>A (p.Glu266Lys) rs370619502 0.00003
NM_003190.5(TAPBP):c.1057C>T (p.Arg353Cys) rs529085934 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.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.269A>G (p.His90Arg) rs772919424 0.00001
NM_003190.5(TAPBP):c.344G>C (p.Cys115Ser) rs754776791 0.00001
NM_003190.5(TAPBP):c.449T>A (p.Val150Asp) rs1042952067 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.907C>T (p.Arg303Trp) rs747417254 0.00001
NM_003190.5(TAPBP):c.908G>A (p.Arg303Gln) rs185298453 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.1058G>A (p.Arg353His)
NM_003190.5(TAPBP):c.1069G>C (p.Asp357His)
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.1172C>G (p.Ala391Gly)
NM_003190.5(TAPBP):c.1172C>T (p.Ala391Val)
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.1210G>A (p.Gly404Ser)
NM_003190.5(TAPBP):c.1214T>A (p.Leu405His) rs1768785371
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+3_1300+6del rs770150271
NM_003190.5(TAPBP):c.130_470-3608del
NM_003190.5(TAPBP):c.1345T>G (p.Ter449Gly)
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.163C>T (p.Pro55Ser)
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.169C>T (p.Arg57Trp)
NM_003190.5(TAPBP):c.173C>T (p.Pro58Leu)
NM_003190.5(TAPBP):c.176A>C (p.Asp59Ala) rs1769553234
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.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.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.287T>C (p.Phe96Ser)
NM_003190.5(TAPBP):c.289G>C (p.Val97Leu) rs1487703229
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.359A>G (p.Asp120Gly)
NM_003190.5(TAPBP):c.369G>A (p.Trp123Ter) rs1554279286
NM_003190.5(TAPBP):c.37+1G>A
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.389G>T (p.Ser130Ile)
NM_003190.5(TAPBP):c.3G>T (p.Met1Ile)
NM_003190.5(TAPBP):c.409A>G (p.Ser137Gly)
NM_003190.5(TAPBP):c.422C>G (p.Pro141Arg)
NM_003190.5(TAPBP):c.457A>C (p.Thr153Pro)
NM_003190.5(TAPBP):c.481G>A (p.Val161Ile)
NM_003190.5(TAPBP):c.494C>G (p.Thr165Ser)
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.550T>C (p.Tyr184His)
NM_003190.5(TAPBP):c.561dup (p.Thr188fs) rs748799310
NM_003190.5(TAPBP):c.562A>G (p.Thr188Ala) rs561629511
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.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.748T>C (p.Trp250Arg)
NM_003190.5(TAPBP):c.763_773dup (p.Thr260fs) rs2150961648
NM_003190.5(TAPBP):c.776C>T (p.Pro259Leu)
NM_003190.5(TAPBP):c.778_779delinsGG (p.Thr260Gly)
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.859G>A (p.Ala287Thr)
NM_003190.5(TAPBP):c.867_868del (p.Tyr289_Lys290delinsTer) rs1301955419
NM_003190.5(TAPBP):c.868+1G>A rs1350625021
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.949G>A (p.Val317Met)
NM_003190.5(TAPBP):c.94del (p.Asp32fs)
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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