ClinVar Miner

List of variants in gene TP53 reported as pathogenic for Li-Fraumeni syndrome

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Gene type:
ClinVar version:
Total variants: 209
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HGVS dbSNP
NC_000017.11:g.(?_7669599)_(7676604_?)del
NC_000017.11:g.(?_7669603)_(7676600_?)del
NC_000017.11:g.(?_7674811)_(7676594_?)del
NC_000017.11:g.7673701_7673725dup
NM_000546.5(TP53):c.2588dup rs1555523630
NM_000546.6(TP53):c.1010G>A (p.Arg337His) rs121912664
NM_000546.6(TP53):c.1021delinsGAA (p.Phe341fs)
NM_000546.6(TP53):c.102dup (p.Pro36fs)
NM_000546.6(TP53):c.128del (p.Asp42_Leu43insTer)
NM_000546.6(TP53):c.131_153dup (p.Gln52fs)
NM_000546.6(TP53):c.241dup (p.Thr81fs)
NM_000546.6(TP53):c.309C>G (p.Tyr103Ter) rs1597373901
NM_000546.6(TP53):c.314_324del (p.Gly105fs)
NM_000546.6(TP53):c.320_327del (p.Tyr107fs)
NM_000546.6(TP53):c.327_328dup (p.Arg110fs)
NM_000546.6(TP53):c.373_374insACTGTGACTTGCA (p.Thr125fs)
NM_000546.6(TP53):c.375G>A (p.Thr125=) rs55863639
NM_000546.6(TP53):c.376-196_566del
NM_000546.6(TP53):c.376-70_394delinsG
NM_000546.6(TP53):c.422dup (p.Cys141fs)
NM_000546.6(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_000546.6(TP53):c.455C>T (p.Pro152Leu) rs587782705
NM_000546.6(TP53):c.472C>G (p.Arg158Gly)
NM_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144
NM_000546.6(TP53):c.490A>T (p.Lys164Ter)
NM_000546.6(TP53):c.524G>A (p.Arg175His) rs28934578
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495
NM_000546.6(TP53):c.542G>C (p.Arg181Pro) rs397514495
NM_000546.6(TP53):c.561_564dup (p.Ala189fs)
NM_000546.6(TP53):c.565_566del (p.Ala189fs)
NM_000546.6(TP53):c.573del (p.Gln192fs)
NM_000546.6(TP53):c.586C>T (p.Arg196Ter) rs397516435
NM_000546.6(TP53):c.615T>G (p.Tyr205Ter)
NM_000546.6(TP53):c.626dup (p.Asn210fs)
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.644del (p.Ser215fs)
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666
NM_000546.6(TP53):c.672G>A (p.Glu224=) rs267605076
NM_000546.6(TP53):c.686_687del (p.Cys229fs)
NM_000546.6(TP53):c.721del (p.Ser241fs)
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575
NM_000546.6(TP53):c.734_735delinsAT (p.Gly245Asp)
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_000546.6(TP53):c.761T>A (p.Ile254Asn)
NM_000546.6(TP53):c.796G>T (p.Gly266Ter)
NM_000546.6(TP53):c.807del (p.Phe270fs)
NM_000546.6(TP53):c.810dup (p.Glu271Ter)
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) rs121913343
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574
NM_000546.6(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_000546.6(TP53):c.853_856del (p.Glu285fs)
NM_000546.6(TP53):c.870_873del (p.Lys292fs)
NM_000546.6(TP53):c.910_911delinsGAGGTAAGCAAGG (p.Thr304fs)
NM_000546.6(TP53):c.949C>T (p.Gln317Ter) rs764735889
NM_000546.6(TP53):c.961A>T (p.Lys321Ter)
NM_000546.6(TP53):c.988del (p.Leu330fs)
NM_001126112.2(TP53):c.1009C>T (p.Arg337Cys) rs587782529
NM_001126112.2(TP53):c.1015G>T (p.Glu339Ter) rs17882252
NM_001126112.2(TP53):c.1024C>T (p.Arg342Ter) rs730882029
NM_001126112.2(TP53):c.1024del (p.Arg342fs) rs1131691022
NM_001126112.2(TP53):c.1025G>C (p.Arg342Pro) rs375338359
NM_001126112.2(TP53):c.1036G>T (p.Glu346Ter) rs1567542019
NM_001126112.2(TP53):c.1043_1051delinsG (p.Leu348_Lys351delinsTer) rs1567541951
NM_001126112.2(TP53):c.1101-2A>G rs587781664
NM_001126112.2(TP53):c.112del (p.Gln38fs) rs1555526795
NM_001126112.2(TP53):c.140del (p.Pro47fs) rs1567557016
NM_001126112.2(TP53):c.151G>T (p.Glu51Ter) rs1567556930
NM_001126112.2(TP53):c.155_156del (p.Gln52fs) rs1555526750
NM_001126112.2(TP53):c.156dup (p.Trp53fs) rs1555526748
NM_001126112.2(TP53):c.158G>A (p.Trp53Ter) rs876658483
NM_001126112.2(TP53):c.159G>A (p.Trp53Ter) rs1064794618
NM_001126112.2(TP53):c.196dup (p.Met66fs) rs1597374735
NM_001126112.2(TP53):c.216dup (p.Val73fs) rs730882018
NM_001126112.2(TP53):c.250del (p.Ala84fs) rs1597374343
NM_001126112.2(TP53):c.257_279del (p.Ala86fs) rs886041861
NM_001126112.2(TP53):c.271dup (p.Trp91fs) rs1597374152
NM_001126112.2(TP53):c.273G>A (p.Trp91Ter) rs876660548
NM_001126112.2(TP53):c.295del (p.Ser99fs) rs1555526593
NM_001126112.2(TP53):c.310C>T (p.Gln104Ter) rs1567555934
NM_001126112.2(TP53):c.321C>A (p.Tyr107Ter) rs770776262
NM_001126112.2(TP53):c.323_329dup (p.Leu111fs) rs1131691004
NM_001126112.2(TP53):c.327_328del (p.Phe109fs) rs1064795434
NM_001126112.2(TP53):c.329G>C (p.Arg110Pro) rs11540654
NM_001126112.2(TP53):c.329G>T (p.Arg110Leu) rs11540654
NM_001126112.2(TP53):c.329_330delinsCC (p.Arg110Pro) rs1597373700
NM_001126112.2(TP53):c.334_364dup (p.Val122fs) rs1555526495
NM_001126112.2(TP53):c.342dup (p.His115fs) rs1597373605
NM_001126112.2(TP53):c.363_364TG[1] (p.Val122fs) rs587780067
NM_001126112.2(TP53):c.372C>A (p.Cys124Ter) rs1555526478
NM_001126112.2(TP53):c.374C>A (p.Thr125Lys) rs786201057
NM_001126112.2(TP53):c.374C>G (p.Thr125Arg) rs786201057
NM_001126112.2(TP53):c.374C>T (p.Thr125Met) rs786201057
NM_001126112.2(TP53):c.375+1G>T rs1567555445
NM_001126112.2(TP53):c.375+2T>A rs1555526469
NM_001126112.2(TP53):c.383del (p.Pro128fs) rs1597371666
NM_001126112.2(TP53):c.422G>A (p.Cys141Tyr) rs587781288
NM_001126112.2(TP53):c.437G>A (p.Trp146Ter) rs1206165503
NM_001126112.2(TP53):c.438G>A (p.Trp146Ter) rs1131691026
NM_001126112.2(TP53):c.448_460del (p.Thr150fs) rs1064792930
NM_001126112.2(TP53):c.455del (p.Pro152fs) rs730882019
NM_001126112.2(TP53):c.455dup (p.Pro153fs) rs730882019
NM_001126112.2(TP53):c.45del (p.Gln16fs) rs1555526997
NM_001126112.2(TP53):c.473G>T (p.Arg158Leu) rs587782144
NM_001126112.2(TP53):c.473_474delinsTT (p.Arg158Leu) rs1567553501
NM_001126112.2(TP53):c.488A>G (p.Tyr163Cys) rs148924904
NM_001126112.2(TP53):c.492_493delinsCT (p.Lys164_Gln165delinsAsnTer) rs1567553215
NM_001126112.2(TP53):c.493C>T (p.Gln165Ter) rs730882001
NM_001126112.2(TP53):c.499C>T (p.Gln167Ter) rs1555526097
NM_001126112.2(TP53):c.501del (p.Gln167fs) rs1567553148
NM_001126112.2(TP53):c.509_510dup (p.Glu171fs) rs1597370110
NM_001126112.2(TP53):c.509_512del (p.Thr170fs) rs1555526082
NM_001126112.2(TP53):c.511G>T (p.Glu171Ter) rs587781845
NM_001126112.2(TP53):c.517G>A (p.Val173Met) rs876660754
NM_001126112.2(TP53):c.517G>T (p.Val173Leu) rs876660754
NM_001126112.2(TP53):c.517_535dup (p.His179fs) rs1567552753
NM_001126112.2(TP53):c.518T>C (p.Val173Ala) rs1057519747
NM_001126112.2(TP53):c.522_559+5del rs1555525957
NM_001126112.2(TP53):c.523C>G (p.Arg175Gly) rs138729528
NM_001126112.2(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_001126112.2(TP53):c.532del (p.His178fs) rs786202525
NM_001126112.2(TP53):c.535C>T (p.His179Tyr) rs587780070
NM_001126112.2(TP53):c.537T>A (p.His179Gln) rs876660821
NM_001126112.2(TP53):c.537T>G (p.His179Gln) rs876660821
NM_001126112.2(TP53):c.541C>T (p.Arg181Cys) rs587782596
NM_001126112.2(TP53):c.551_554del (p.Asp184fs) rs1597369519
NM_001126112.2(TP53):c.559+1G>A rs1131691042
NM_001126112.2(TP53):c.574C>T (p.Gln192Ter) rs866380588
NM_001126112.2(TP53):c.578A>C (p.His193Pro) rs786201838
NM_001126112.2(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_001126112.2(TP53):c.626_627del (p.Arg209fs) rs1057517840
NM_001126112.2(TP53):c.652G>A (p.Val218Met) rs878854072
NM_001126112.2(TP53):c.659A>C (p.Tyr220Ser) rs121912666
NM_001126112.2(TP53):c.661G>T (p.Glu221Ter) rs786201592
NM_001126112.2(TP53):c.662del (p.Glu221fs) rs878854071
NM_001126112.2(TP53):c.672+1G>A rs863224499
NM_001126112.2(TP53):c.673-1G>A rs878854073
NM_001126112.2(TP53):c.673-1G>T rs878854073
NM_001126112.2(TP53):c.673-2A>G rs1555525585
NM_001126112.2(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_001126112.2(TP53):c.702_714del (p.His233_Tyr234insTer) rs1567549676
NM_001126112.2(TP53):c.711del (p.Met237fs) rs1597365138
NM_001126112.2(TP53):c.712T>C (p.Cys238Arg) rs1057519981
NM_001126112.2(TP53):c.713G>C (p.Cys238Ser) rs730882005
NM_001126112.2(TP53):c.713G>T (p.Cys238Phe) rs730882005
NM_001126112.2(TP53):c.714T>G (p.Cys238Trp) rs193920789
NM_001126112.2(TP53):c.715_724del (p.Asn239fs) rs1555525518
NM_001126112.2(TP53):c.716del (p.Asn239fs) rs1060501197
NM_001126112.2(TP53):c.722C>A (p.Ser241Tyr) rs28934573
NM_001126112.2(TP53):c.725G>A (p.Cys242Tyr) rs121912655
NM_001126112.2(TP53):c.730G>A (p.Gly244Ser) rs1057519989
NM_001126112.2(TP53):c.731G>A (p.Gly244Asp) rs985033810
NM_001126112.2(TP53):c.733G>T (p.Gly245Cys) rs28934575
NM_001126112.2(TP53):c.734G>A (p.Gly245Asp) rs121912656
NM_001126112.2(TP53):c.736A>G (p.Met246Val) rs483352695
NM_001126112.2(TP53):c.743G>C (p.Arg248Pro) rs11540652
NM_001126112.2(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_001126112.2(TP53):c.747G>T (p.Arg249Ser) rs28934571
NM_001126112.2(TP53):c.766dup (p.Thr256fs) rs1597364034
NM_001126112.2(TP53):c.782+1G>A rs1555525429
NM_001126112.2(TP53):c.783-1G>A rs1555525367
NM_001126112.2(TP53):c.783-2A>C rs1060501207
NM_001126112.2(TP53):c.788del (p.Asn263fs) rs1597362423
NM_001126112.2(TP53):c.790del (p.Leu264fs) rs1060501194
NM_001126112.2(TP53):c.794T>C (p.Leu265Pro) rs879253942
NM_001126112.2(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_001126112.2(TP53):c.801dup (p.Asn268fs) rs1597362206
NM_001126112.2(TP53):c.809T>C (p.Phe270Ser) rs1057519986
NM_001126112.2(TP53):c.812_815dup (p.Arg273fs) rs1597362004
NM_001126112.2(TP53):c.817C>G (p.Arg273Gly) rs121913343
NM_001126112.2(TP53):c.818G>C (p.Arg273Pro) rs28934576
NM_001126112.2(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_001126112.2(TP53):c.818_819GT[1] (p.Val274fs) rs1567547933
NM_001126112.2(TP53):c.824G>A (p.Cys275Tyr) rs863224451
NM_001126112.2(TP53):c.831T>A (p.Cys277Ter) rs1057523347
NM_001126112.2(TP53):c.837_838GA[2] (p.Asp281fs) rs1567547661
NM_001126112.2(TP53):c.841G>A (p.Asp281Asn) rs764146326
NM_001126112.2(TP53):c.841G>T (p.Asp281Tyr) rs764146326
NM_001126112.2(TP53):c.842A>G (p.Asp281Gly) rs587781525
NM_001126112.2(TP53):c.842A>T (p.Asp281Val) rs587781525
NM_001126112.2(TP53):c.844_847delinsAG (p.Arg283fs) rs1555525209
NM_001126112.2(TP53):c.848_857del (p.Arg283fs) rs1555525170
NM_001126112.2(TP53):c.848_867dup (p.Arg290fs) rs1597360991
NM_001126112.2(TP53):c.853G>A (p.Glu285Lys) rs112431538
NM_001126112.2(TP53):c.854A>T (p.Glu285Val) rs121912667
NM_001126112.2(TP53):c.856G>A (p.Glu286Lys) rs786201059
NM_001126112.2(TP53):c.86del (p.Asn29fs) rs1555526931
NM_001126112.2(TP53):c.870dup (p.Lys291fs) rs1555525140
NM_001126112.2(TP53):c.892G>T (p.Glu298Ter) rs201744589
NM_001126112.2(TP53):c.901_902dup (p.Gly302fs) rs876660726
NM_001126112.2(TP53):c.916C>T (p.Arg306Ter) rs121913344
NM_001126112.2(TP53):c.917_919+10del rs1555525040
NM_001126112.2(TP53):c.917_919+15del rs1597360140
NM_001126112.2(TP53):c.917_919+6del rs1567546716
NM_001126112.2(TP53):c.919+1G>A rs1131691039
NM_001126112.2(TP53):c.945del (p.Gln317fs) rs1597359548
NM_001126112.2(TP53):c.949del (p.Gln317fs) rs1567546196
NM_001126112.2(TP53):c.97-11C>G rs769697802
NM_001126112.2(TP53):c.973G>T (p.Gly325Ter) rs863224500
NM_001126112.2(TP53):c.976G>T (p.Glu326Ter) rs876659384
NM_001126112.2(TP53):c.990_993del (p.Gln331fs) rs1555524949
NM_001126112.2(TP53):c.993+1G>A rs11575997
NM_001126112.2(TP53):c.993+1G>C rs11575997
NM_001126112.2(TP53):c.993+1G>T rs11575997
NM_001126112.2(TP53):c.993+1del rs1131691033
NM_001126112.2(TP53):c.994-1G>C rs587782272
Single allele

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