ClinVar Miner

List of variants in gene TP53 studied for Li-Fraumeni syndrome 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 166
Download table as spreadsheet
HGVS dbSNP
NM_000546.5(TP53):c.319T>C (p.Tyr107His) rs368771578
NM_000546.6(TP53):c.*1132C>T
NM_000546.6(TP53):c.*144G>A
NM_000546.6(TP53):c.*168C>T
NM_000546.6(TP53):c.*328G>A
NM_000546.6(TP53):c.*357T>C
NM_000546.6(TP53):c.*409C>A
NM_000546.6(TP53):c.*760T>C
NM_000546.6(TP53):c.*761T>C
NM_000546.6(TP53):c.-22G>A
NM_000546.6(TP53):c.1010G>A (p.Arg337His) rs121912664
NM_000546.6(TP53):c.1093C>T (p.His365Tyr) rs267605075
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) rs1800371
NM_000546.6(TP53):c.215C>G (p.Pro72Arg) rs1042522
NM_000546.6(TP53):c.28G>A (p.Val10Ile) rs535274413
NM_000546.6(TP53):c.31G>C (p.Glu11Gln) rs201382018
NM_000546.6(TP53):c.455C>T (p.Pro152Leu) rs587782705
NM_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144
NM_000546.6(TP53):c.482_487del (p.Ala161_Tyr163delinsAsp)
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.637C>T (p.Arg213Ter) rs397516436
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.6(TP53):c.639A>G (p.Arg213=) rs1800372
NM_000546.6(TP53):c.642T>G (p.His214Gln) rs587781386
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575
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.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.847C>T (p.Arg283Cys) rs149633775
NM_000546.6(TP53):c.869G>A (p.Arg290His) rs55819519
NM_000546.6(TP53):c.885T>C (p.Pro295=) rs200073907
NM_000546.6(TP53):c.91G>A (p.Val31Ile) rs201753350
NM_000546.6(TP53):c.935C>G (p.Thr312Ser) rs145151284
NM_001126112.2(TP53):c.*1070C>T rs114831472
NM_001126112.2(TP53):c.*1160T>G rs886053499
NM_001126112.2(TP53):c.*1175A>C rs78378222
NM_001126112.2(TP53):c.*205G>A rs16956880
NM_001126112.2(TP53):c.*327C>T rs886053512
NM_001126112.2(TP53):c.*485G>A rs4968187
NM_001126112.2(TP53):c.*613C>A rs17879353
NM_001126112.2(TP53):c.*626C>T rs886053506
NM_001126112.2(TP53):c.*754C>T rs199729221
NM_001126112.2(TP53):c.*773C>T rs200378797
NM_001126112.2(TP53):c.*790G>A rs886053502
NM_001126112.2(TP53):c.*826G>A rs17884306
NM_001126112.2(TP53):c.*936A>G rs55817367
NM_001126112.2(TP53):c.*99G>A rs886053513
NM_001126112.2(TP53):c.1000G>C (p.Gly334Arg) rs730882028
NM_001126112.2(TP53):c.1014C>T (p.Phe338=) rs150293825
NM_001126112.2(TP53):c.1015G>A (p.Glu339Lys) rs17882252
NM_001126112.2(TP53):c.1015G>T (p.Glu339Ter) rs17882252
NM_001126112.2(TP53):c.1023C>T (p.Phe341=) rs864622369
NM_001126112.2(TP53):c.1031T>C (p.Leu344Pro) rs121912662
NM_001126112.2(TP53):c.1060C>A (p.Gln354Lys) rs755394212
NM_001126112.2(TP53):c.1079G>C (p.Gly360Ala) rs35993958
NM_001126112.2(TP53):c.107C>A (p.Pro36Gln) rs587781866
NM_001126112.2(TP53):c.108G>A (p.Pro36=) rs1800370
NM_001126112.2(TP53):c.1135C>A (p.Arg379Ser) rs749061599
NM_001126112.2(TP53):c.1136G>A (p.Arg379His) rs863224682
NM_001126112.2(TP53):c.1149C>T (p.Leu383=) rs373710656
NM_001126112.2(TP53):c.1151T>C (p.Met384Thr) rs1060501196
NM_001126112.2(TP53):c.1165G>T (p.Gly389Trp) rs587783064
NM_001126112.2(TP53):c.11C>T (p.Pro4Leu) rs878854064
NM_001126112.2(TP53):c.145G>A (p.Asp49Asn) rs587780728
NM_001126112.2(TP53):c.145G>C (p.Asp49His) rs587780728
NM_001126112.2(TP53):c.149T>C (p.Ile50Thr) rs370502517
NM_001126112.2(TP53):c.171C>A (p.Asp57Glu) rs587782776
NM_001126112.2(TP53):c.173C>G (p.Pro58Arg) rs144386518
NM_001126112.2(TP53):c.180A>C (p.Pro60=) rs749289195
NM_001126112.2(TP53):c.188C>T (p.Ala63Val) rs372201428
NM_001126112.2(TP53):c.18A>G (p.Ser6=) rs573130482
NM_001126112.2(TP53):c.214C>G (p.Pro72Ala) rs587782769
NM_001126112.2(TP53):c.214_215delinsTG (p.Pro72Cys) rs730882014
NM_001126112.2(TP53):c.222C>T (p.Ala74=) rs786201577
NM_001126112.2(TP53):c.234A>G (p.Ala78=) rs375099397
NM_001126112.2(TP53):c.245C>T (p.Pro82Leu) rs534447939
NM_001126112.2(TP53):c.248C>T (p.Ala83Val) rs201717599
NM_001126112.2(TP53):c.249G>A (p.Ala83=) rs55754907
NM_001126112.2(TP53):c.250G>A (p.Ala84Thr) rs587781307
NM_001126112.2(TP53):c.255T>C (p.Pro85=) rs775515332
NM_001126112.2(TP53):c.267del (p.Ser90fs) rs587783062
NM_001126112.2(TP53):c.273G>A (p.Trp91Ter) rs876660548
NM_001126112.2(TP53):c.283_285TCT[1] (p.Ser96del) rs878854068
NM_001126112.2(TP53):c.30C>T (p.Val10=) rs568171603
NM_001126112.2(TP53):c.31G>A (p.Glu11Lys) rs201382018
NM_001126112.2(TP53):c.322_324del (p.Gly108del) rs587783063
NM_001126112.2(TP53):c.329G>A (p.Arg110His) rs11540654
NM_001126112.2(TP53):c.374C>T (p.Thr125Met) rs786201057
NM_001126112.2(TP53):c.375+17G>A rs765179201
NM_001126112.2(TP53):c.376-18dup rs756417643
NM_001126112.2(TP53):c.38dup (p.Leu14fs) rs1555527002
NM_001126112.2(TP53):c.398T>C (p.Met133Thr) rs28934873
NM_001126112.2(TP53):c.399G>A (p.Met133Ile) rs1064795139
NM_001126112.2(TP53):c.408A>G (p.Gln136=) rs758781593
NM_001126112.2(TP53):c.412G>C (p.Ala138Pro) rs28934875
NM_001126112.2(TP53):c.427G>A (p.Val143Met) rs587782620
NM_001126112.2(TP53):c.455dup (p.Pro153fs) rs730882019
NM_001126112.2(TP53):c.461G>A (p.Gly154Asp) rs762846821
NM_001126112.2(TP53):c.466C>T (p.Arg156Cys) rs563378859
NM_001126112.2(TP53):c.499C>T (p.Gln167Ter) rs1555526097
NM_001126112.2(TP53):c.509C>T (p.Thr170Met) rs779000871
NM_001126112.2(TP53):c.532del (p.His178fs) rs786202525
NM_001126112.2(TP53):c.535C>T (p.His179Tyr) rs587780070
NM_001126112.2(TP53):c.554G>A (p.Ser185Asn) rs150607408
NM_001126112.2(TP53):c.566C>T (p.Ala189Val) rs121912665
NM_001126112.2(TP53):c.572C>G (p.Pro191Arg) rs587778718
NM_001126112.2(TP53):c.613T>A (p.Tyr205Asn) rs1057520008
NM_001126112.2(TP53):c.613T>G (p.Tyr205Asp) rs1057520008
NM_001126112.2(TP53):c.628_629del (p.Asn210fs) rs587776768
NM_001126112.2(TP53):c.645T>G (p.Ser215Arg) rs1057520001
NM_001126112.2(TP53):c.646G>A (p.Val216Met) rs730882025
NM_001126112.2(TP53):c.655C>T (p.Pro219Ser) rs879253894
NM_001126112.2(TP53):c.659A>C (p.Tyr220Ser) rs121912666
NM_001126112.2(TP53):c.665C>T (p.Pro222Leu) rs146340390
NM_001126112.2(TP53):c.666G>T (p.Pro222=) rs72661118
NM_001126112.2(TP53):c.672+15T>C rs140756213
NM_001126112.2(TP53):c.672+18G>C rs199578278
NM_001126112.2(TP53):c.673-36G>C rs17880604
NM_001126112.2(TP53):c.673-37C>T rs374907737
NM_001126112.2(TP53):c.6G>A (p.Glu2=) rs143458271
NM_001126112.2(TP53):c.704A>G (p.Asn235Ser) rs144340710
NM_001126112.2(TP53):c.724T>A (p.Cys242Ser) rs1057519982
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.74+14T>C rs184743157
NM_001126112.2(TP53):c.74+9A>C rs1057517593
NM_001126112.2(TP53):c.755T>C (p.Leu252Pro) rs121912653
NM_001126112.2(TP53):c.766A>G (p.Thr256Ala) rs587781433
NM_001126112.2(TP53):c.768A>G (p.Thr256=) rs786203563
NM_001126112.2(TP53):c.772G>A (p.Glu258Lys) rs121912652
NM_001126112.2(TP53):c.776A>T (p.Asp259Val) rs745425759
NM_001126112.2(TP53):c.782+12C>T rs17881780
NM_001126112.2(TP53):c.783-13C>G rs1555525373
NM_001126112.2(TP53):c.787A>G (p.Asn263Asp) rs72661119
NM_001126112.2(TP53):c.794T>C (p.Leu265Pro) rs879253942
NM_001126112.2(TP53):c.800G>A (p.Arg267Gln) rs587780075
NM_001126112.2(TP53):c.814G>T (p.Val272Leu) rs121912657
NM_001126112.2(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_001126112.2(TP53):c.848G>A (p.Arg283His) rs371409680
NM_001126112.2(TP53):c.875A>T (p.Lys292Ile) rs121912663
NM_001126112.2(TP53):c.877G>T (p.Gly293Trp) rs587780076
NM_001126112.2(TP53):c.892G>A (p.Glu298Lys) rs201744589
NM_001126112.2(TP53):c.919+1G>A rs1131691039
NM_001126112.2(TP53):c.96+15T>C rs200053580
NM_001126112.2(TP53):c.97-15T>C rs1555526843
NM_001126112.2(TP53):c.97-28T>A rs200989844
NM_001126112.2(TP53):c.97-6C>T rs35117667
NM_001126112.2(TP53):c.97-9C>T rs202217267
NM_001126112.2(TP53):c.993+12T>C rs1800899
NM_001126112.2(TP53):c.993+13G>C rs369599972
NM_001126112.2(TP53):c.993+234G>A rs17883348
NM_001126112.2(TP53):c.993+244G>A rs576532147
NM_001126112.2(TP53):c.993+326_993+341del rs730882013
NM_001126112.2(TP53):c.993+8G>A rs1060504163
NM_001126112.2(TP53):c.994-17C>T rs368691910
NM_001126112.2(TP53):c.998G>A (p.Arg333His) rs573154688
NM_001126113.2(TP53):c.1009C>T (p.Arg337Ter) rs554738122
NM_001126113.2(TP53):c.1015T>C (p.Cys339Arg) rs1642789
NM_001126113.2(TP53):c.1034_1036CGT[1] (p.Ser346del) rs1555524872
NM_001126114.2(TP53):c.1021T>G (p.Cys341Gly) rs3021068
NM_001126114.2(TP53):c.1025A>C (p.Ter342Ser) rs764562217
TP53, 1-BP DEL, CODON 257
TP53, 11-BP DEL/5-BP INS

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.