ClinVar Miner

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

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Gene type:
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Total variants: 106
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HGVS dbSNP
NM_000546.5(TP53):c.1000G>T (p.Gly334Trp) rs730882028
NM_000546.5(TP53):c.1010G>T (p.Arg337Leu) rs121912664
NM_000546.5(TP53):c.1025G>C (p.Arg342Pro) rs375338359
NM_000546.5(TP53):c.1040C>A (p.Ala347Asp) rs397516434
NM_000546.5(TP53):c.1101-1G>A rs876658982
NM_000546.5(TP53):c.313G>A (p.Gly105Ser) rs1060501195
NM_000546.5(TP53):c.313G>C (p.Gly105Arg) rs1060501195
NM_000546.5(TP53):c.314G>A (p.Gly105Asp) rs587781504
NM_000546.5(TP53):c.328_339del (p.Arg110_Phe113del) rs587782490
NM_000546.5(TP53):c.329G>C (p.Arg110Pro) rs11540654
NM_000546.5(TP53):c.329G>T (p.Arg110Leu) rs11540654
NM_000546.5(TP53):c.374C>G (p.Thr125Arg) rs786201057
NM_000546.5(TP53):c.374C>T (p.Thr125Met) rs786201057
NM_000546.5(TP53):c.375+2T>G rs1555526469
NM_000546.5(TP53):c.375G>C (p.Thr125=) rs55863639
NM_000546.5(TP53):c.376-1G>A rs868137297
NM_000546.5(TP53):c.376-2A>G rs786202799
NM_000546.5(TP53):c.389T>C (p.Leu130Pro) rs1131691013
NM_000546.5(TP53):c.392A>T (p.Asn131Ile) rs1131691037
NM_000546.5(TP53):c.394A>G (p.Lys132Glu) rs747342068
NM_000546.5(TP53):c.401T>G (p.Phe134Cys) rs780442292
NM_000546.5(TP53):c.404G>A (p.Cys135Tyr) rs587781991
NM_000546.5(TP53):c.404G>T (p.Cys135Phe) rs587781991
NM_000546.5(TP53):c.423C>G (p.Cys141Trp) rs1057519977
NM_000546.5(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_000546.5(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_000546.5(TP53):c.464C>A (p.Thr155Asn) rs786202752
NM_000546.5(TP53):c.467G>A (p.Arg156His) rs371524413
NM_000546.5(TP53):c.469G>T (p.Val157Phe) rs121912654
NM_000546.5(TP53):c.470T>A (p.Val157Asp) rs1131691023
NM_000546.5(TP53):c.470T>C (p.Val157Ala) rs1131691023
NM_000546.5(TP53):c.472C>T (p.Arg158Cys) rs587780068
NM_000546.5(TP53):c.487T>G (p.Tyr163Asp) rs786203436
NM_000546.5(TP53):c.503A>G (p.His168Arg) rs867114783
NM_000546.5(TP53):c.514G>T (p.Val172Phe) rs1131691043
NM_000546.5(TP53):c.517G>A (p.Val173Met) rs876660754
NM_000546.5(TP53):c.518T>A (p.Val173Glu) rs1057519747
NM_000546.5(TP53):c.523C>G (p.Arg175Gly) rs138729528
NM_000546.5(TP53):c.524G>T (p.Arg175Leu) rs28934578
NM_000546.5(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_000546.5(TP53):c.530C>G (p.Pro177Arg) rs751477326
NM_000546.5(TP53):c.532C>G (p.His178Asp) rs1064795203
NM_000546.5(TP53):c.533A>C (p.His178Pro) rs1555526004
NM_000546.5(TP53):c.535C>A (p.His179Asn) rs587780070
NM_000546.5(TP53):c.537T>A (p.His179Gln) rs876660821
NM_000546.5(TP53):c.538G>A (p.Glu180Lys) rs879253911
NM_000546.5(TP53):c.541C>T (p.Arg181Cys) rs587782596
NM_000546.5(TP53):c.542G>A (p.Arg181His) rs397514495
NM_000546.5(TP53):c.559+1G>A rs1131691042
NM_000546.5(TP53):c.577C>T (p.His193Tyr) rs876658468
NM_000546.5(TP53):c.578A>G (p.His193Arg) rs786201838
NM_000546.5(TP53):c.578A>T (p.His193Leu) rs786201838
NM_000546.5(TP53):c.587G>C (p.Arg196Pro) rs483352697
NM_000546.5(TP53):c.641A>G (p.His214Arg) rs1057519992
NM_000546.5(TP53):c.644G>A (p.Ser215Asn) rs587782177
NM_000546.5(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.5(TP53):c.655C>T (p.Pro219Ser) rs879253894
NM_000546.5(TP53):c.657_665del (p.Tyr220_Pro222del) rs876658144
NM_000546.5(TP53):c.658T>A (p.Tyr220Asn) rs530941076
NM_000546.5(TP53):c.672G>A (p.Glu224=) rs267605076
NM_000546.5(TP53):c.695T>C (p.Ile232Thr) rs587781589
NM_000546.5(TP53):c.700T>G (p.Tyr234Asp) rs864622237
NM_000546.5(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_000546.5(TP53):c.711G>A (p.Met237Ile) rs587782664
NM_000546.5(TP53):c.715A>G (p.Asn239Asp) rs876660807
NM_000546.5(TP53):c.716A>G (p.Asn239Ser) rs1057519999
NM_000546.5(TP53):c.716_736del (p.Asn239_Gly245del) rs876659260
NM_000546.5(TP53):c.717C>G (p.Asn239Lys) rs1057522275
NM_000546.5(TP53):c.722C>G (p.Ser241Cys) rs28934573
NM_000546.5(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.5(TP53):c.728T>C (p.Met243Thr) rs730882006
NM_000546.5(TP53):c.730G>A (p.Gly244Ser) rs1057519989
NM_000546.5(TP53):c.731G>A (p.Gly244Asp) rs985033810
NM_000546.5(TP53):c.736A>C (p.Met246Leu) rs483352695
NM_000546.5(TP53):c.737T>A (p.Met246Lys) rs587780074
NM_000546.5(TP53):c.737T>C (p.Met246Thr) rs587780074
NM_000546.5(TP53):c.738G>A (p.Met246Ile) rs1019340046
NM_000546.5(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_000546.5(TP53):c.75-2A>G rs1131691020
NM_000546.5(TP53):c.751A>C (p.Ile251Leu) rs730882007
NM_000546.5(TP53):c.766A>G (p.Thr256Ala) rs587781433
NM_000546.5(TP53):c.770T>G (p.Leu257Arg) rs28934577
NM_000546.5(TP53):c.782+2T>G rs876659076
NM_000546.5(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.5(TP53):c.800G>C (p.Arg267Pro) rs587780075
NM_000546.5(TP53):c.814G>T (p.Val272Leu) rs121912657
NM_000546.5(TP53):c.818G>C (p.Arg273Pro) rs28934576
NM_000546.5(TP53):c.821T>G (p.Val274Gly) rs1057520006
NM_000546.5(TP53):c.824G>A (p.Cys275Tyr) rs863224451
NM_000546.5(TP53):c.825T>G (p.Cys275Trp) rs1555525279
NM_000546.5(TP53):c.827C>A (p.Ala276Asp) rs786202082
NM_000546.5(TP53):c.830G>A (p.Cys277Tyr) rs763098116
NM_000546.5(TP53):c.836G>A (p.Gly279Glu) rs1064793881
NM_000546.5(TP53):c.838A>G (p.Arg280Gly) rs753660142
NM_000546.5(TP53):c.838_848delinsCA (p.Arg280_Arg283delinsHis) rs587781564
NM_000546.5(TP53):c.839G>A (p.Arg280Lys) rs121912660
NM_000546.5(TP53):c.842A>T (p.Asp281Val) rs587781525
NM_000546.5(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_000546.5(TP53):c.848G>A (p.Arg283His) rs371409680
NM_000546.5(TP53):c.853G>A (p.Glu285Lys) rs112431538
NM_000546.5(TP53):c.919+1G>C rs1131691039
NM_000546.5(TP53):c.920-2A>G rs397516439
NM_000546.5(TP53):c.96+1G>T rs1131691003
NM_000546.5(TP53):c.96+2dup rs1131691015
NM_000546.5(TP53):c.993G>A (p.Gln331=) rs11575996
NM_000546.5(TP53):c.994-2A>G rs867389695

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