ClinVar Miner

List of variants in gene TP53 reported as likely pathogenic by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 150
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HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg) rs730882028 0.00001
NM_000546.6(TP53):c.374C>T (p.Thr125Met) rs786201057 0.00001
NM_000546.6(TP53):c.541C>T (p.Arg181Cys) rs587782596 0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 0.00001
NM_000546.6(TP53):c.1000G>T (p.Gly334Trp) rs730882028
NM_000546.6(TP53):c.1010G>C (p.Arg337Pro) rs121912664
NM_000546.6(TP53):c.1010G>T (p.Arg337Leu) rs121912664
NM_000546.6(TP53):c.1021_1022delinsAG (p.Phe341Ser) rs2543473385
NM_000546.6(TP53):c.1031T>G (p.Leu344Arg) rs121912662
NM_000546.6(TP53):c.1039G>A (p.Ala347Thr) rs1597349147
NM_000546.6(TP53):c.1045G>T (p.Glu349Ter) rs1567541975
NM_000546.6(TP53):c.1077del (p.Ser362fs) rs1555524370
NM_000546.6(TP53):c.1101-1G>A rs876658982
NM_000546.6(TP53):c.1101-2A>G rs587781664
NM_000546.6(TP53):c.283_375+21del rs1555526462
NM_000546.6(TP53):c.313G>A (p.Gly105Ser) rs1060501195
NM_000546.6(TP53):c.313G>C (p.Gly105Arg) rs1060501195
NM_000546.6(TP53):c.328_339del (p.Arg110_Phe113del) rs587782490
NM_000546.6(TP53):c.329G>T (p.Arg110Leu) rs11540654
NM_000546.6(TP53):c.336CTT[1] (p.Phe113del) rs764486868
NM_000546.6(TP53):c.373A>C (p.Thr125Pro) rs1057520003
NM_000546.6(TP53):c.375+1G>A rs1567555445
NM_000546.6(TP53):c.375+1G>T rs1567555445
NM_000546.6(TP53):c.375+2T>A rs1555526469
NM_000546.6(TP53):c.375+2T>G rs1555526469
NM_000546.6(TP53):c.376-2A>G rs786202799
NM_000546.6(TP53):c.376-2A>T rs786202799
NM_000546.6(TP53):c.376-2_377dup rs1222592143
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) rs730881999
NM_000546.6(TP53):c.401T>G (p.Phe134Cys) rs780442292
NM_000546.6(TP53):c.402T>A (p.Phe134Leu) rs1555526278
NM_000546.6(TP53):c.405C>G (p.Cys135Trp) rs1057519976
NM_000546.6(TP53):c.413C>T (p.Ala138Val) rs750600586
NM_000546.6(TP53):c.421T>C (p.Cys141Arg) rs1057519978
NM_000546.6(TP53):c.423C>G (p.Cys141Trp) rs1057519977
NM_000546.6(TP53):c.434T>C (p.Leu145Pro) rs587782197
NM_000546.6(TP53):c.436_456del (p.Trp146_Pro152del)
NM_000546.6(TP53):c.451_452delinsTT (p.Pro151Phe) rs1597370899
NM_000546.6(TP53):c.455C>G (p.Pro152Arg) rs587782705
NM_000546.6(TP53):c.463A>C (p.Thr155Pro) rs772683278
NM_000546.6(TP53):c.464C>T (p.Thr155Ile) rs786202752
NM_000546.6(TP53):c.466C>G (p.Arg156Gly) rs563378859
NM_000546.6(TP53):c.467G>C (p.Arg156Pro) rs371524413
NM_000546.6(TP53):c.472_489del (p.Arg158_Tyr163del)
NM_000546.6(TP53):c.473_474delinsTT (p.Arg158Leu) rs1567553501
NM_000546.6(TP53):c.484A>T (p.Ile162Phe) rs2073377305
NM_000546.6(TP53):c.485T>A (p.Ile162Asn) rs587780069
NM_000546.6(TP53):c.487T>A (p.Tyr163Asn) rs786203436
NM_000546.6(TP53):c.487T>G (p.Tyr163Asp) rs786203436
NM_000546.6(TP53):c.503A>C (p.His168Pro)
NM_000546.6(TP53):c.509_520del (p.Thr170_Val173del) rs2151030744
NM_000546.6(TP53):c.515T>A (p.Val172Asp) rs1131691021
NM_000546.6(TP53):c.518T>C (p.Val173Ala) rs1057519747
NM_000546.6(TP53):c.526T>A (p.Cys176Ser) rs967461896
NM_000546.6(TP53):c.528C>G (p.Cys176Trp) rs1057519980
NM_000546.6(TP53):c.529_546del (p.Pro177_Cys182del) rs2073361326
NM_000546.6(TP53):c.532C>G (p.His178Asp) rs1064795203
NM_000546.6(TP53):c.534C>A (p.His178Gln) rs1555526001
NM_000546.6(TP53):c.534C>G (p.His178Gln) rs1555526001
NM_000546.6(TP53):c.535C>A (p.His179Asn) rs587780070
NM_000546.6(TP53):c.536A>C (p.His179Pro) rs1057519991
NM_000546.6(TP53):c.536A>T (p.His179Leu) rs1057519991
NM_000546.6(TP53):c.541_559+1del rs2543592586
NM_000546.6(TP53):c.559+2_559+3delinsGT rs1597369390
NM_000546.6(TP53):c.559G>C (p.Gly187Arg) rs776167460
NM_000546.6(TP53):c.559_559+6del
NM_000546.6(TP53):c.569C>G (p.Pro190Arg) rs876660825
NM_000546.6(TP53):c.569C>T (p.Pro190Leu) rs876660825
NM_000546.6(TP53):c.569CTC[1] (p.Pro191del) rs1555525902
NM_000546.6(TP53):c.577C>A (p.His193Asn) rs876658468
NM_000546.6(TP53):c.579T>A (p.His193Gln) rs1597368777
NM_000546.6(TP53):c.589G>A (p.Val197Met) rs786204041
NM_000546.6(TP53):c.613T>C (p.Tyr205His) rs1057520008
NM_000546.6(TP53):c.632C>T (p.Thr211Ile) rs2073331490
NM_000546.6(TP53):c.637C>G (p.Arg213Gly) rs397516436
NM_000546.6(TP53):c.637_639delinsTGG (p.Arg213Trp)
NM_000546.6(TP53):c.644G>A (p.Ser215Asn) rs587782177
NM_000546.6(TP53):c.646GTG[2] (p.Val218del) rs1597367938
NM_000546.6(TP53):c.653T>A (p.Val218Glu) rs1555525743
NM_000546.6(TP53):c.655C>T (p.Pro219Ser) rs879253894
NM_000546.6(TP53):c.657_665del (p.Tyr220_Pro222del) rs876658144
NM_000546.6(TP53):c.672+1G>A rs863224499
NM_000546.6(TP53):c.673-1G>C rs878854073
NM_000546.6(TP53):c.673-2A>T rs1555525585
NM_000546.6(TP53):c.694A>T (p.Ile232Phe) rs1555525562
NM_000546.6(TP53):c.695T>C (p.Ile232Thr) rs587781589
NM_000546.6(TP53):c.698ACTACA[1] (p.Asn235_Tyr236del) rs794727846
NM_000546.6(TP53):c.700_702del (p.Tyr234del) rs2543564954
NM_000546.6(TP53):c.701A>C (p.Tyr234Ser) rs587780073
NM_000546.6(TP53):c.703A>G (p.Asn235Asp) rs786204145
NM_000546.6(TP53):c.709A>G (p.Met237Val) rs730882004
NM_000546.6(TP53):c.711G>T (p.Met237Ile) rs587782664
NM_000546.6(TP53):c.714T>G (p.Cys238Trp) rs193920789
NM_000546.6(TP53):c.716A>G (p.Asn239Ser) rs1057519999
NM_000546.6(TP53):c.716_736del (p.Asn239_Gly245del) rs876659260
NM_000546.6(TP53):c.717C>G (p.Asn239Lys) rs1057522275
NM_000546.6(TP53):c.724T>A (p.Cys242Ser) rs1057519982
NM_000546.6(TP53):c.728T>C (p.Met243Thr) rs730882006
NM_000546.6(TP53):c.736A>C (p.Met246Leu) rs483352695
NM_000546.6(TP53):c.737T>A (p.Met246Lys) rs587780074
NM_000546.6(TP53):c.737T>C (p.Met246Thr) rs587780074
NM_000546.6(TP53):c.738G>A (p.Met246Ile) rs1019340046
NM_000546.6(TP53):c.738G>C (p.Met246Ile) rs1019340046
NM_000546.6(TP53):c.738G>T (p.Met246Ile) rs1019340046
NM_000546.6(TP53):c.75-2A>G rs1131691020
NM_000546.6(TP53):c.751A>C (p.Ile251Leu) rs730882007
NM_000546.6(TP53):c.754_762del (p.Leu252_Ile254del) rs2073243450
NM_000546.6(TP53):c.757A>C (p.Thr253Pro) rs1597364185
NM_000546.6(TP53):c.761TCA[1] (p.Ile255del) rs1064794309
NM_000546.6(TP53):c.763A>T (p.Ile255Phe) rs1057519995
NM_000546.6(TP53):c.770T>G (p.Leu257Arg) rs28934577
NM_000546.6(TP53):c.781_782+8del rs2543556588
NM_000546.6(TP53):c.782+1G>T rs1555525429
NM_000546.6(TP53):c.782+2T>A rs876659076
NM_000546.6(TP53):c.782+2T>G rs876659076
NM_000546.6(TP53):c.782+2_782+8del rs2543556575
NM_000546.6(TP53):c.783-1G>T rs1555525367
NM_000546.6(TP53):c.783-2A>T rs1060501207
NM_000546.6(TP53):c.783-4_792del rs2543547129
NM_000546.6(TP53):c.794T>A (p.Leu265Gln) rs879253942
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.6(TP53):c.801_818del (p.Asn268_Arg273del) rs2543544577
NM_000546.6(TP53):c.811G>A (p.Glu271Lys) rs1060501191
NM_000546.6(TP53):c.820G>C (p.Val274Leu) rs1057520005
NM_000546.6(TP53):c.821T>C (p.Val274Ala) rs1057520006
NM_000546.6(TP53):c.824G>C (p.Cys275Ser) rs863224451
NM_000546.6(TP53):c.825T>G (p.Cys275Trp) rs1555525279
NM_000546.6(TP53):c.829T>C (p.Cys277Arg) rs1064795369
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) rs17849781
NM_000546.6(TP53):c.838_846del (p.Asp281_Arg283del) rs1555525215
NM_000546.6(TP53):c.838_848delinsCA (p.Arg280_Arg283delinsHis) rs587781564
NM_000546.6(TP53):c.842A>T (p.Asp281Val) rs587781525
NM_000546.6(TP53):c.843C>A (p.Asp281Glu) rs1057519984
NM_000546.6(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_000546.6(TP53):c.848G>C (p.Arg283Pro) rs371409680
NM_000546.6(TP53):c.850A>C (p.Thr284Pro) rs1204379654
NM_000546.6(TP53):c.917_919+10del rs1555525040
NM_000546.6(TP53):c.919+1G>C rs1131691039
NM_000546.6(TP53):c.920-2A>G rs397516439
NM_000546.6(TP53):c.920-2A>T rs397516439
NM_000546.6(TP53):c.96+1G>T rs1131691003
NM_000546.6(TP53):c.96+2T>G rs2073505429
NM_000546.6(TP53):c.96+2dup rs1131691015
NM_000546.6(TP53):c.97-1_102dup
NM_000546.6(TP53):c.987_993+2delinsTA rs2543524584
NM_000546.6(TP53):c.993+1G>A rs11575997
NM_000546.6(TP53):c.993+1G>C rs11575997
NM_000546.6(TP53):c.993+2T>G rs1597359053
NM_000546.6(TP53):c.993G>A (p.Gln331=) rs11575996
NM_000546.6(TP53):c.995T>A (p.Ile332Asn) rs2150995433

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