ClinVar Miner

List of variants in gene TP53 studied for TP53-related disorder

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Total variants: 133
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HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.*1175A>C rs78378222 0.00849
NM_000546.5(TP53):c.319T>C (p.Tyr107His) rs368771578 0.00027
NM_000546.6(TP53):c.173C>G (p.Pro58Arg) rs144386518 0.00027
NM_000546.6(TP53):c.704A>G (p.Asn235Ser) rs144340710 0.00025
NM_000546.6(TP53):c.560-8G>C rs373797299 0.00018
NM_000546.6(TP53):c.935C>G (p.Thr312Ser) rs145151284 0.00018
NM_000546.6(TP53):c.869G>A (p.Arg290His) rs55819519 0.00014
NM_000546.6(TP53):c.993+223T>G rs3021068 0.00011
NM_000546.6(TP53):c.673-37C>T rs374907737 0.00010
NM_000546.6(TP53):c.6G>A (p.Glu2=) rs143458271 0.00009
NM_000546.6(TP53):c.91G>A (p.Val31Ile) rs201753350 0.00009
NM_000546.6(TP53):c.248C>T (p.Ala83Val) rs201717599 0.00007
NM_000546.6(TP53):c.618G>A (p.Leu206=) rs142813240 0.00007
NM_000546.6(TP53):c.993+228A>G rs761121529 0.00007
NM_000546.6(TP53):c.993+310G>A rs201293647 0.00007
NC_000017.11:g.7668194C>T rs1056550417 0.00006
NM_000546.6(TP53):c.1015G>A (p.Glu339Lys) rs17882252 0.00006
NM_000546.6(TP53):c.97-28T>A rs200989844 0.00006
NM_000546.6(TP53):c.1096T>G (p.Ser366Ala) rs17881470 0.00005
NM_000546.6(TP53):c.993+234G>A rs17883348 0.00005
NM_000546.6(TP53):c.255T>C (p.Pro85=) rs775515332 0.00004
NM_000546.6(TP53):c.28G>A (p.Val10Ile) rs535274413 0.00004
NM_000546.6(TP53):c.450A>G (p.Thr150=) rs754020850 0.00004
NM_000546.6(TP53):c.460G>A (p.Gly154Ser) rs137852789 0.00004
NM_000546.6(TP53):c.612G>A (p.Glu204=) rs749629973 0.00004
NM_000546.6(TP53):c.993+312C>T rs756952434 0.00004
NM_000546.6(TP53):c.993+313G>A rs372821099 0.00004
NM_000546.6(TP53):c.998G>A (p.Arg333His) rs573154688 0.00004
NM_000546.6(TP53):c.*1169A>G rs918073756 0.00003
NM_000546.6(TP53):c.1120G>C (p.Gly374Arg) rs587781858 0.00003
NM_000546.6(TP53):c.214C>G (p.Pro72Ala) rs587782769 0.00003
NM_000546.6(TP53):c.329G>A (p.Arg110His) rs11540654 0.00003
NM_000546.6(TP53):c.509C>T (p.Thr170Met) rs779000871 0.00003
NM_000546.6(TP53):c.993+284C>T rs554738122 0.00003
NM_000546.6(TP53):c.665C>T (p.Pro222Leu) rs146340390 0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_000546.6(TP53):c.784G>A (p.Gly262Ser) rs200579969 0.00002
NM_000546.6(TP53):c.997C>T (p.Arg333Cys) rs769934890 0.00002
NM_000546.6(TP53):c.1010G>A (p.Arg337His) rs121912664 0.00001
NM_000546.6(TP53):c.1066G>C (p.Gly356Arg) rs766786605 0.00001
NM_000546.6(TP53):c.1078G>A (p.Gly360Arg) rs786203298 0.00001
NM_000546.6(TP53):c.1093C>T (p.His365Tyr) rs267605075 0.00001
NM_000546.6(TP53):c.1150A>G (p.Met384Val) rs730882009 0.00001
NM_000546.6(TP53):c.245C>T (p.Pro82Leu) rs534447939 0.00001
NM_000546.6(TP53):c.270C>T (p.Ser90=) rs863224370 0.00001
NM_000546.6(TP53):c.328C>T (p.Arg110Cys) rs587781371 0.00001
NM_000546.6(TP53):c.354A>T (p.Thr118=) rs751978853 0.00001
NM_000546.6(TP53):c.374C>T (p.Thr125Met) rs786201057 0.00001
NM_000546.6(TP53):c.375G>A (p.Thr125=) rs55863639 0.00001
NM_000546.6(TP53):c.376-2dup rs751253294 0.00001
NM_000546.6(TP53):c.390C>T (p.Leu130=) rs781537596 0.00001
NM_000546.6(TP53):c.395A>G (p.Lys132Arg) rs1057519996 0.00001
NM_000546.6(TP53):c.455C>T (p.Pro152Leu) rs587782705 0.00001
NM_000546.6(TP53):c.457C>T (p.Pro153Ser) rs1064795860 0.00001
NM_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144 0.00001
NM_000546.6(TP53):c.524G>A (p.Arg175His) rs28934578 0.00001
NM_000546.6(TP53):c.536A>G (p.His179Arg) rs1057519991 0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 0.00001
NM_000546.6(TP53):c.54A>G (p.Thr18=) rs876659984 0.00001
NM_000546.6(TP53):c.604C>T (p.Arg202Cys) rs587780072 0.00001
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_000546.6(TP53):c.66A>G (p.Leu22=) rs748527030 0.00001
NM_000546.6(TP53):c.673-45C>T rs1209285932 0.00001
NM_000546.6(TP53):c.673-9del rs762540407 0.00001
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575 0.00001
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) rs121913343 0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_000546.6(TP53):c.848G>A (p.Arg283His) rs371409680 0.00001
NM_000546.6(TP53):c.885T>C (p.Pro295=) rs200073907 0.00001
NM_000546.6(TP53):c.891C>T (p.His297=) rs750578863 0.00001
NM_000546.6(TP53):c.919+7A>C rs199527475 0.00001
NM_000546.6(TP53):c.943T>A (p.Ser315Thr) rs762620193 0.00001
NM_000546.6(TP53):c.949C>A (p.Gln317Lys) rs764735889 0.00001
NM_000546.6(TP53):c.950A>G (p.Gln317Arg) rs1159579789 0.00001
NM_000546.6(TP53):c.993+213A>G rs912136376 0.00001
NM_000546.6(TP53):c.993+307C>G rs200274944 0.00001
NM_000546.6(TP53):c.993+314dup rs1567545210 0.00001
NC_000017.11:g.7668195G>A rs781520227
NM_000546.6(TP53):c.1015G>T (p.Glu339Ter) rs17882252
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) rs730882029
NM_000546.6(TP53):c.1115A>G (p.Lys372Arg) rs876658876
NM_000546.6(TP53):c.140del (p.Pro47fs) rs1567557016
NM_000546.6(TP53):c.18A>G (p.Ser6=) rs573130482
NM_000546.6(TP53):c.214_215delinsTG (p.Pro72Cys) rs730882014
NM_000546.6(TP53):c.215C>A (p.Pro72His) rs1042522
NM_000546.6(TP53):c.270del (p.Trp91fs)
NM_000546.6(TP53):c.31G>C (p.Glu11Gln) rs201382018
NM_000546.6(TP53):c.330del (p.Leu111fs)
NM_000546.6(TP53):c.358A>C (p.Lys120Gln) rs121912658
NM_000546.6(TP53):c.365_366del (p.Val122fs) rs587780067
NM_000546.6(TP53):c.375G>C (p.Thr125=) rs55863639
NM_000546.6(TP53):c.376-1G>T rs868137297
NM_000546.6(TP53):c.402T>G (p.Phe134Leu) rs1555526278
NM_000546.6(TP53):c.455del (p.Pro152fs) rs730882019
NM_000546.6(TP53):c.515T>A (p.Val172Asp) rs1131691021
NM_000546.6(TP53):c.517G>A (p.Val173Met) rs876660754
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_000546.6(TP53):c.528C>G (p.Cys176Trp) rs1057519980
NM_000546.6(TP53):c.538G>A (p.Glu180Lys) rs879253911
NM_000546.6(TP53):c.546C>G (p.Cys182Trp) rs1064796257
NM_000546.6(TP53):c.567C>T (p.Ala189=) rs55764374
NM_000546.6(TP53):c.581T>G (p.Leu194Arg) rs1057519998
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_000546.6(TP53):c.586C>T (p.Arg196Ter) rs397516435
NM_000546.6(TP53):c.614A>G (p.Tyr205Cys) rs1057520007
NM_000546.6(TP53):c.626_627del (p.Arg209fs) rs1057517840
NM_000546.6(TP53):c.629A>G (p.Asn210Ser) rs2151026881
NM_000546.6(TP53):c.636del (p.Arg213fs) rs864309495
NM_000546.6(TP53):c.637C>T (p.Arg213Ter) rs397516436
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.6(TP53):c.646_663del (p.Val216_Glu221del)
NM_000546.6(TP53):c.666G>T (p.Pro222=) rs72661118
NM_000546.6(TP53):c.673-29C>G
NM_000546.6(TP53):c.680del (p.Ser227fs) rs1567550018
NM_000546.6(TP53):c.689CCA[1] (p.Thr231del)
NM_000546.6(TP53):c.702C>A (p.Tyr234Ter) rs2151021924
NM_000546.6(TP53):c.708C>G (p.Tyr236Ter) rs1597365202
NM_000546.6(TP53):c.715_718dup (p.Ser240fs) rs1597364916
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.779_782+13del rs2543556379
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.6(TP53):c.812_814del (p.Glu271del) rs2543545171
NM_000546.6(TP53):c.817C>G (p.Arg273Gly) rs121913343
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.830G>T (p.Cys277Phe) rs763098116
NM_000546.6(TP53):c.832C>T (p.Pro278Ser) rs17849781
NM_000546.6(TP53):c.843C>T (p.Asp281=) rs1057519984
NM_000546.6(TP53):c.891_915dup (p.Ala307_Leu308insAlaProArgGluHisTer) rs2073171970
NM_000546.6(TP53):c.919+1G>A rs1131691039
NM_000546.6(TP53):c.97-2A>G rs879254212
NM_000546.6(TP53):c.993G>A (p.Gln331=) rs11575996
NM_000546.6(TP53):c.994-2A>G rs867389695
NM_000546.6:c.-29+4088_994-91del

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