ClinVar Miner

List of variants in gene TP53 reported as pathogenic by Myriad Genetics, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 158
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) rs148924904 0.00001
NM_000546.6(TP53):c.524G>A (p.Arg175His) rs28934578 0.00001
NM_000546.6(TP53):c.535C>T (p.His179Tyr) rs587780070 0.00001
NM_000546.6(TP53):c.560-1G>A rs1202793339 0.00001
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) rs730882005 0.00001
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) rs121913343 0.00001
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr) rs863224451 0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) rs730882029
NM_000546.6(TP53):c.1024del (p.Arg342fs) rs1131691022
NM_000546.6(TP53):c.102dup (p.Pro36fs) rs2073488821
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro) rs121912662
NM_000546.6(TP53):c.1043_1064delinsGCA (p.Leu348fs) rs2543471112
NM_000546.6(TP53):c.1051A>T (p.Lys351Ter) rs141402957
NM_000546.6(TP53):c.112C>T (p.Gln38Ter) rs2151043525
NM_000546.6(TP53):c.140dup (p.Asp48fs) rs1567557016
NM_000546.6(TP53):c.158G>A (p.Trp53Ter) rs876658483
NM_000546.6(TP53):c.159G>A (p.Trp53Ter) rs1064794618
NM_000546.6(TP53):c.159dup (p.Phe54fs) rs2543634677
NM_000546.6(TP53):c.173del (p.Pro58fs) rs2151042416
NM_000546.6(TP53):c.205del (p.Ala69fs) rs2151041861
NM_000546.6(TP53):c.216dup (p.Val73fs) rs730882018
NM_000546.6(TP53):c.242_245dup (p.Ala83fs) rs2543630848
NM_000546.6(TP53):c.261_263delinsTGGCCCCTGCCCCTCCTGGCCCCTGCCCCTG (p.Ala88fs) rs2543629872
NM_000546.6(TP53):c.262del (p.Ala88fs) rs2151040686
NM_000546.6(TP53):c.267del (p.Ser90fs) rs587783062
NM_000546.6(TP53):c.273G>A (p.Trp91Ter) rs876660548
NM_000546.6(TP53):c.298C>T (p.Gln100Ter) rs1567555994
NM_000546.6(TP53):c.309C>A (p.Tyr103Ter) rs1597373901
NM_000546.6(TP53):c.309C>G (p.Tyr103Ter) rs1597373901
NM_000546.6(TP53):c.310C>T (p.Gln104Ter) rs1567555934
NM_000546.6(TP53):c.314_329del (p.Gly105fs) rs2543625803
NM_000546.6(TP53):c.321C>G (p.Tyr107Ter) rs770776262
NM_000546.6(TP53):c.321_331del (p.Phe109fs) rs2543625644
NM_000546.6(TP53):c.323_329del (p.Gly108fs) rs1131691004
NM_000546.6(TP53):c.323_329dup (p.Leu111fs) rs1131691004
NM_000546.6(TP53):c.328del (p.Arg110fs) rs587780066
NM_000546.6(TP53):c.365_366del (p.Val122fs) rs587780067
NM_000546.6(TP53):c.368del (p.Thr123fs) rs2543623370
NM_000546.6(TP53):c.371dup (p.Cys124fs) rs1267047192
NM_000546.6(TP53):c.372C>A (p.Cys124Ter) rs1555526478
NM_000546.6(TP53):c.378C>G (p.Tyr126Ter) rs1567554500
NM_000546.6(TP53):c.380_381delinsT (p.Ser127fs) rs2543608309
NM_000546.6(TP53):c.380_384dup (p.Ala129fs) rs2543608078
NM_000546.6(TP53):c.382_383del (p.Pro128fs) rs1597371666
NM_000546.6(TP53):c.383del (p.Pro128fs) rs1597371666
NM_000546.6(TP53):c.387_393del (p.Leu130fs) rs2543607427
NM_000546.6(TP53):c.388del (p.Leu130fs) rs2151033977
NM_000546.6(TP53):c.38dup (p.Leu14fs) rs1555527002
NM_000546.6(TP53):c.406C>T (p.Gln136Ter) rs1555526268
NM_000546.6(TP53):c.413C>T (p.Ala138Val) rs750600586
NM_000546.6(TP53):c.422dup (p.Cys141fs) rs2073394466
NM_000546.6(TP53):c.425del (p.Pro142fs) rs2151033162
NM_000546.6(TP53):c.437G>A (p.Trp146Ter) rs1206165503
NM_000546.6(TP53):c.438G>A (p.Trp146Ter) rs1131691026
NM_000546.6(TP53):c.439del (p.Val147fs) rs1567553924
NM_000546.6(TP53):c.448_460del (p.Thr150fs) rs1064792930
NM_000546.6(TP53):c.454_466del (p.Pro152fs) rs876659215
NM_000546.6(TP53):c.456del (p.Gly154fs) rs2504201839
NM_000546.6(TP53):c.456dup (p.Pro153fs) rs2504201797
NM_000546.6(TP53):c.461dup (p.Thr155fs) rs2543601374
NM_000546.6(TP53):c.477del (p.Met160fs) rs2073379152
NM_000546.6(TP53):c.481G>A (p.Ala161Thr) rs193920817
NM_000546.6(TP53):c.481del (p.Ala161fs) rs2543599398
NM_000546.6(TP53):c.483_484insG (p.Ile162fs) rs2543599196
NM_000546.6(TP53):c.489C>A (p.Tyr163Ter) rs1567553246
NM_000546.6(TP53):c.490A>G (p.Lys164Glu) rs879254249
NM_000546.6(TP53):c.490A>T (p.Lys164Ter) rs879254249
NM_000546.6(TP53):c.493C>T (p.Gln165Ter) rs730882001
NM_000546.6(TP53):c.499C>T (p.Gln167Ter) rs1555526097
NM_000546.6(TP53):c.499_500del (p.Gln167fs) rs2543597805
NM_000546.6(TP53):c.532del (p.His178fs) rs786202525
NM_000546.6(TP53):c.532dup (p.His178fs) rs786202525
NM_000546.6(TP53):c.535C>G (p.His179Asp) rs587780070
NM_000546.6(TP53):c.537T>G (p.His179Gln) rs876660821
NM_000546.6(TP53):c.538G>T (p.Glu180Ter) rs879253911
NM_000546.6(TP53):c.539_545del (p.Glu180fs) rs2543593922
NM_000546.6(TP53):c.545_546insGTGAG (p.Cys182delinsTrpTer) rs2543593848
NM_000546.6(TP53):c.548C>G (p.Ser183Ter) rs1555525970
NM_000546.6(TP53):c.556del (p.Asp186fs) rs2543592806
NM_000546.6(TP53):c.565del (p.Ala189fs) rs2543589027
NM_000546.6(TP53):c.574C>T (p.Gln192Ter) rs866380588
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.599del (p.Asn200fs) rs1131691011
NM_000546.6(TP53):c.610G>T (p.Glu204Ter) rs2073336758
NM_000546.6(TP53):c.614A>G (p.Tyr205Cys) rs1057520007
NM_000546.6(TP53):c.617T>A (p.Leu206Ter) rs1555525804
NM_000546.6(TP53):c.619_626dup (p.Asn210fs)
NM_000546.6(TP53):c.626_627del (p.Arg209fs) rs1057517840
NM_000546.6(TP53):c.630_634del (p.Thr211fs) rs2543583855
NM_000546.6(TP53):c.631_632del (p.Thr211fs) rs2543584033
NM_000546.6(TP53):c.635_636del (p.Phe212fs) rs864309495
NM_000546.6(TP53):c.635_645del (p.Phe212fs) rs2543582500
NM_000546.6(TP53):c.637C>T (p.Arg213Ter) rs397516436
NM_000546.6(TP53):c.642del (p.His214fs) rs2543582874
NM_000546.6(TP53):c.64del (p.Leu22fs) rs2543645899
NM_000546.6(TP53):c.657dup (p.Tyr220fs) rs2151026188
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) rs121912666
NM_000546.6(TP53):c.659_660del (p.Pro219_Tyr220insTer) rs2543581136
NM_000546.6(TP53):c.660T>A (p.Tyr220Ter) rs1567551150
NM_000546.6(TP53):c.661G>T (p.Glu221Ter) rs786201592
NM_000546.6(TP53):c.665del (p.Pro222fs) rs1567551073
NM_000546.6(TP53):c.672+1G>T rs863224499
NM_000546.6(TP53):c.681del (p.Asp228fs) rs2543566349
NM_000546.6(TP53):c.681dup (p.Asp228Ter) rs1567550002
NM_000546.6(TP53):c.686_687del (p.Cys229fs) rs2073266408
NM_000546.6(TP53):c.690del (p.Thr231fs) rs2151022189
NM_000546.6(TP53):c.698ACTACA[1] (p.Asn235_Tyr236del) rs794727846
NM_000546.6(TP53):c.702C>A (p.Tyr234Ter) rs2151021924
NM_000546.6(TP53):c.702C>G (p.Tyr234Ter) rs2151021924
NM_000546.6(TP53):c.708_715del (p.Tyr236_Asn239delinsTer) rs2543563455
NM_000546.6(TP53):c.718dup (p.Ser240fs) rs2543562994
NM_000546.6(TP53):c.723del (p.Cys242fs) rs2151021244
NM_000546.6(TP53):c.728dup (p.Met243fs) rs2543561894
NM_000546.6(TP53):c.730G>A (p.Gly244Ser) rs1057519989
NM_000546.6(TP53):c.733G>T (p.Gly245Cys) rs28934575
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.743_744insCCGCCCATGAACCTCCGGCATGAACCG (p.Pro250_Ile251insTerArgPro) rs2543560251
NM_000546.6(TP53):c.750del (p.Ile251fs) rs1567549203
NM_000546.6(TP53):c.764dup (p.Thr256fs) rs2543558212
NM_000546.6(TP53):c.768_769del (p.Leu257fs) rs2151020122
NM_000546.6(TP53):c.783_794delinsG (p.Ser261fs) rs2543546966
NM_000546.6(TP53):c.785del (p.Gly262fs) rs879253905
NM_000546.6(TP53):c.786del (p.Asn263fs) rs2151017144
NM_000546.6(TP53):c.797del (p.Gly266fs) rs1567548223
NM_000546.6(TP53):c.804del (p.Asn268fs) rs2543546140
NM_000546.6(TP53):c.80del (p.Pro27fs) rs1192416464
NM_000546.6(TP53):c.812dup (p.Val272fs) rs2543545366
NM_000546.6(TP53):c.817C>A (p.Arg273Ser) rs121913343
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.831T>A (p.Cys277Ter) rs1057523347
NM_000546.6(TP53):c.838_851delinsTGACCAAAT (p.Arg280_Thr284delinsTer) rs2543541469
NM_000546.6(TP53):c.844del (p.Arg282fs) rs1131691027
NM_000546.6(TP53):c.846_853dup (p.Glu285fs) rs2543541281
NM_000546.6(TP53):c.848delinsCC (p.Arg283fs) rs2529189303
NM_000546.6(TP53):c.850_860del (p.Thr284fs) rs2543540561
NM_000546.6(TP53):c.858del (p.Glu287fs) rs2543540747
NM_000546.6(TP53):c.863dup (p.Asn288fs) rs2151015077
NM_000546.6(TP53):c.86_87delinsT (p.Asn29fs) rs2543641888
NM_000546.6(TP53):c.86del (p.Asn29fs) rs1555526931
NM_000546.6(TP53):c.876dup (p.Gly293fs) rs2543538973
NM_000546.6(TP53):c.878_912dup (p.Lys305fs) rs2543535390
NM_000546.6(TP53):c.880G>T (p.Glu294Ter) rs1057520607
NM_000546.6(TP53):c.891_892insA (p.Glu298fs) rs2543537612
NM_000546.6(TP53):c.891_915dup (p.Ala307_Leu308insAlaProArgGluHisTer) rs2073171970
NM_000546.6(TP53):c.892G>T (p.Glu298Ter) rs201744589
NM_000546.6(TP53):c.896_899del (p.Leu299fs) rs2543536786
NM_000546.6(TP53):c.897_898insA (p.Pro300fs) rs2543536944
NM_000546.6(TP53):c.900_916dup (p.Arg306fs) rs2543535052
NM_000546.6(TP53):c.902dup (p.Gly302fs) rs876660726
NM_000546.6(TP53):c.905_908dup (p.Ser303fs) rs2543535971
NM_000546.6(TP53):c.95del (p.Leu32fs) rs2543641517
NM_000546.6(TP53):c.976G>T (p.Glu326Ter) rs876659384
NM_000546.6(TP53):c.982_985dup (p.Thr329fs) rs2543525433
NM_000546.6(TP53):c.991C>T (p.Gln331Ter) rs1597359130
NM_000546.6(TP53):c.997del (p.Arg333fs) rs2543475089

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.