ClinVar Miner

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

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 198
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HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.91G>A (p.Val31Ile) rs201753350 0.00004
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg) rs730882028 0.00001
NM_000546.6(TP53):c.1010G>A (p.Arg337His) rs121912664 0.00001
NM_000546.6(TP53):c.374C>T (p.Thr125Met) rs786201057 0.00001
NM_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144 0.00001
NM_000546.6(TP53):c.523C>T (p.Arg175Cys) rs138729528 0.00001
NM_000546.6(TP53):c.530C>T (p.Pro177Leu) rs751477326 0.00001
NM_000546.6(TP53):c.535C>T (p.His179Tyr) rs587780070 0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 0.00001
NM_000546.6(TP53):c.685T>C (p.Cys229Arg) rs1064794312 0.00001
NM_000546.6(TP53):c.711G>A (p.Met237Ile) rs587782664 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.853G>A (p.Glu285Lys) rs112431538 0.00001
NC_000017.10:g.(?_7577567)_(7577721_?)del
NC_000017.10:g.(?_7578171)_(7579918_?)dup
NC_000017.11:g.(?_7668402)_(7669690_?)del
NC_000017.11:g.(?_7669599)_(7669700_?)del
NC_000017.11:g.(?_7669599)_(7670725_?)del
NC_000017.11:g.(?_7669603)_(7670721_?)del
NC_000017.11:g.(?_7674811)_(7676594_?)dup
NC_000017.11:g.(?_7674849)_(7676604_?)dup
NM_000546.6(TP53):c.1000G>A (p.Gly334Arg) rs730882028
NM_000546.6(TP53):c.1000G>T (p.Gly334Trp) rs730882028
NM_000546.6(TP53):c.1009C>T (p.Arg337Cys) rs587782529
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.1025G>C (p.Arg342Pro) rs375338359
NM_000546.6(TP53):c.1028del (p.Glu343fs) rs2150994907
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro) rs121912662
NM_000546.6(TP53):c.1040C>A (p.Ala347Asp) rs397516434
NM_000546.6(TP53):c.1043del (p.Leu348fs) rs2150994688
NM_000546.6(TP53):c.1046_1055del (p.Glu349fs) rs2150994409
NM_000546.6(TP53):c.1052del (p.Lys351fs) rs2150994507
NM_000546.6(TP53):c.1054del (p.Asp352fs) rs2150994429
NM_000546.6(TP53):c.1060C>T (p.Gln354Ter) rs755394212
NM_000546.6(TP53):c.1100+2T>A rs2150993637
NM_000546.6(TP53):c.1101-1G>A rs876658982
NM_000546.6(TP53):c.1101-2A>G rs587781664
NM_000546.6(TP53):c.1140del (p.His380fs) rs1555524108
NM_000546.6(TP53):c.1179dup (p.Ter394LeuextTer?) rs1131691024
NM_000546.6(TP53):c.148dup (p.Ile50fs) rs1567556956
NM_000546.6(TP53):c.267del (p.Ser90fs) rs587783062
NM_000546.6(TP53):c.272G>A (p.Trp91Ter) rs2073465664
NM_000546.6(TP53):c.273_279del (p.Trp91fs) rs1064796124
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.318C>G (p.Ser106Arg) rs1555526581
NM_000546.6(TP53):c.318dup (p.Tyr107fs)
NM_000546.6(TP53):c.322_339del (p.Gly108_Phe113del) rs886039495
NM_000546.6(TP53):c.324_331delinsAAA (p.Phe109fs) rs2073455679
NM_000546.6(TP53):c.325T>A (p.Phe109Ile)
NM_000546.6(TP53):c.327_328del (p.Phe109fs) rs1064795434
NM_000546.6(TP53):c.329G>T (p.Arg110Leu) rs11540654
NM_000546.6(TP53):c.339C>A (p.Phe113Leu)
NM_000546.6(TP53):c.356C>G (p.Ala119Gly) rs2073451331
NM_000546.6(TP53):c.374C>G (p.Thr125Arg) rs786201057
NM_000546.6(TP53):c.375+1G>A rs1567555445
NM_000546.6(TP53):c.375+1G>C rs1567555445
NM_000546.6(TP53):c.375+1G>T rs1567555445
NM_000546.6(TP53):c.375+1dup rs1555526470
NM_000546.6(TP53):c.375+2T>A rs1555526469
NM_000546.6(TP53):c.375+2T>C rs1555526469
NM_000546.6(TP53):c.375G>C (p.Thr125=) rs55863639
NM_000546.6(TP53):c.376-11_377del rs2151034180
NM_000546.6(TP53):c.376-2A>G rs786202799
NM_000546.6(TP53):c.376T>G (p.Tyr126Asp) rs886039483
NM_000546.6(TP53):c.378C>G (p.Tyr126Ter) rs1567554500
NM_000546.6(TP53):c.38dup (p.Leu14fs) rs1555527002
NM_000546.6(TP53):c.392_398dup (p.Met133fs) rs2151033760
NM_000546.6(TP53):c.394A>G (p.Lys132Glu) rs747342068
NM_000546.6(TP53):c.396G>C (p.Lys132Asn) rs866775781
NM_000546.6(TP53):c.396G>T (p.Lys132Asn) rs866775781
NM_000546.6(TP53):c.403T>G (p.Cys135Gly) rs1057519975
NM_000546.6(TP53):c.412G>C (p.Ala138Pro) rs28934875
NM_000546.6(TP53):c.427G>A (p.Val143Met) rs587782620
NM_000546.6(TP53):c.428T>C (p.Val143Ala) rs1555526241
NM_000546.6(TP53):c.430C>T (p.Gln144Ter) rs757274881
NM_000546.6(TP53):c.437G>A (p.Trp146Ter) rs1206165503
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_000546.6(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_000546.6(TP53):c.455C>G (p.Pro152Arg) rs587782705
NM_000546.6(TP53):c.459del (p.Gly154fs)
NM_000546.6(TP53):c.464C>A (p.Thr155Asn) rs786202752
NM_000546.6(TP53):c.470T>C (p.Val157Ala) rs1131691023
NM_000546.6(TP53):c.473G>C (p.Arg158Pro) rs587782144
NM_000546.6(TP53):c.473_474delinsTT (p.Arg158Leu) rs1567553501
NM_000546.6(TP53):c.481G>A (p.Ala161Thr) rs193920817
NM_000546.6(TP53):c.482_487del (p.Ala161_Tyr163delinsAsp) rs2073376974
NM_000546.6(TP53):c.489_495del (p.Lys164fs)
NM_000546.6(TP53):c.499C>T (p.Gln167Ter) rs1555526097
NM_000546.6(TP53):c.517G>T (p.Val173Leu) rs876660754
NM_000546.6(TP53):c.518T>C (p.Val173Ala) rs1057519747
NM_000546.6(TP53):c.524G>T (p.Arg175Leu) rs28934578
NM_000546.6(TP53):c.527G>T (p.Cys176Phe) rs786202962
NM_000546.6(TP53):c.528C>G (p.Cys176Trp) rs1057519980
NM_000546.6(TP53):c.530C>G (p.Pro177Arg) rs751477326
NM_000546.6(TP53):c.532C>G (p.His178Asp) rs1064795203
NM_000546.6(TP53):c.537T>G (p.His179Gln) rs876660821
NM_000546.6(TP53):c.538G>A (p.Glu180Lys) rs879253911
NM_000546.6(TP53):c.542G>C (p.Arg181Pro) rs397514495
NM_000546.6(TP53):c.559+1G>A rs1131691042
NM_000546.6(TP53):c.559+1G>T rs1131691042
NM_000546.6(TP53):c.560-15_560-5del
NM_000546.6(TP53):c.560-4_560-2del rs1060501212
NM_000546.6(TP53):c.560-9T>A rs794727781
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.577C>T (p.His193Tyr) rs876658468
NM_000546.6(TP53):c.578A>G (p.His193Arg) rs786201838
NM_000546.6(TP53):c.580C>T (p.Leu194Phe) rs587780071
NM_000546.6(TP53):c.581T>A (p.Leu194His) rs1057519998
NM_000546.6(TP53):c.587G>T (p.Arg196Leu) rs483352697
NM_000546.6(TP53):c.589G>A (p.Val197Met) rs786204041
NM_000546.6(TP53):c.613T>A (p.Tyr205Asn) rs1057520008
NM_000546.6(TP53):c.613T>G (p.Tyr205Asp) rs1057520008
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) rs587778720
NM_000546.6(TP53):c.641A>G (p.His214Arg) rs1057519992
NM_000546.6(TP53):c.643A>C (p.Ser215Arg) rs886039484
NM_000546.6(TP53):c.643A>T (p.Ser215Cys)
NM_000546.6(TP53):c.645T>G (p.Ser215Arg) rs1057520001
NM_000546.6(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.6(TP53):c.655C>T (p.Pro219Ser) rs879253894
NM_000546.6(TP53):c.672+1G>T rs863224499
NM_000546.6(TP53):c.672+2T>A rs1555525703
NM_000546.6(TP53):c.672G>A (p.Glu224=) rs267605076
NM_000546.6(TP53):c.695T>A (p.Ile232Asn) rs587781589
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_000546.6(TP53):c.713G>C (p.Cys238Ser) rs730882005
NM_000546.6(TP53):c.713G>T (p.Cys238Phe) rs730882005
NM_000546.6(TP53):c.716A>G (p.Asn239Ser) rs1057519999
NM_000546.6(TP53):c.718A>G (p.Ser240Gly) rs1567549584
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) rs28934573
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.6(TP53):c.724T>A (p.Cys242Ser) rs1057519982
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) rs121912656
NM_000546.6(TP53):c.737T>A (p.Met246Lys) rs587780074
NM_000546.6(TP53):c.741_742delinsTT (p.Arg248Trp) rs1555525498
NM_000546.6(TP53):c.742C>G (p.Arg248Gly) rs121912651
NM_000546.6(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_000546.6(TP53):c.747G>T (p.Arg249Ser) rs28934571
NM_000546.6(TP53):c.749C>T (p.Pro250Leu) rs1064794311
NM_000546.6(TP53):c.75-1G>A rs2151045740
NM_000546.6(TP53):c.75-2A>G rs1131691020
NM_000546.6(TP53):c.751A>C (p.Ile251Leu) rs730882007
NM_000546.6(TP53):c.751A>T (p.Ile251Phe) rs730882007
NM_000546.6(TP53):c.752T>C (p.Ile251Thr) rs730882027
NM_000546.6(TP53):c.757A>G (p.Thr253Ala) rs1597364185
NM_000546.6(TP53):c.761T>C (p.Ile254Thr)
NM_000546.6(TP53):c.761TCA[1] (p.Ile255del) rs1064794309
NM_000546.6(TP53):c.772G>A (p.Glu258Lys) rs121912652
NM_000546.6(TP53):c.77_80delinsAAGAACGT (p.Leu26fs) rs397516438
NM_000546.6(TP53):c.780_782+3del
NM_000546.6(TP53):c.782+1G>T rs1555525429
NM_000546.6(TP53):c.782+2T>C
NM_000546.6(TP53):c.782+2_782+6del rs1567548832
NM_000546.6(TP53):c.794T>A (p.Leu265Gln) rs879253942
NM_000546.6(TP53):c.794T>C (p.Leu265Pro) rs879253942
NM_000546.6(TP53):c.797G>A (p.Gly266Glu) rs193920774
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.6(TP53):c.809T>C (p.Phe270Ser) rs1057519986
NM_000546.6(TP53):c.814G>C (p.Val272Leu) rs121912657
NM_000546.6(TP53):c.814G>T (p.Val272Leu) rs121912657
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.827C>A (p.Ala276Asp) rs786202082
NM_000546.6(TP53):c.827_853del (p.Ala276_Thr284del) rs2151015346
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr) rs763098116
NM_000546.6(TP53):c.832C>T (p.Pro278Ser) rs17849781
NM_000546.6(TP53):c.835G>A (p.Gly279Arg) rs1555525248
NM_000546.6(TP53):c.836G>A (p.Gly279Glu) rs1064793881
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) rs121912660
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>A (p.Arg282Gln) rs730882008
NM_000546.6(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_000546.6(TP53):c.88_96+1dup rs2151045431
NM_000546.6(TP53):c.891_915dup (p.Ala307_Leu308insAlaProArgGluHisTer) rs2073171970
NM_000546.6(TP53):c.892del (p.Glu298fs) rs2073177507
NM_000546.6(TP53):c.919+15_919+17delinsTGGAAACGAATGGAATCATCATCGAATGGAAATGAAAGGAGTCATCATCTAATGGAATTGCATGGAATCATCATAAAATGGAATCGAATGGAATCAACATCAAATGGAATCAAATGGAATCATTGAACGGAATTGAATGGAATCGTCATCGAATGAATTGACTGCAATCATCGAATGGTCTCGAATGGAATCATCTTCAAATGGAATGGAATGGAATCATCGCATAGAATCGAATGGAATTATCATCGAATGGAATCGAATGGAATCAACATCAAACGGAAAAAAACGGAATTATCGAATGGAATCGAAGAGAATCATC
NM_000546.6(TP53):c.919+1G>A rs1131691039
NM_000546.6(TP53):c.920-2A>G rs397516439
NM_000546.6(TP53):c.920-3_923del
NM_000546.6(TP53):c.920-4_920del rs2151012455
NM_000546.6(TP53):c.934_992dup (p.Ile332fs) rs2151010859
NM_000546.6(TP53):c.949C>T (p.Gln317Ter) rs764735889
NM_000546.6(TP53):c.96+1G>A rs1131691003
NM_000546.6(TP53):c.96+1G>C rs1131691003
NM_000546.6(TP53):c.96+1G>T rs1131691003
NM_000546.6(TP53):c.96+1del rs2151045418
NM_000546.6(TP53):c.96+2T>A rs2073505429
NM_000546.6(TP53):c.97-1G>A rs1597375294
NM_000546.6(TP53):c.97-1G>T rs1597375294
NM_000546.6(TP53):c.993+1del rs1131691033
NM_000546.6(TP53):c.993G>A (p.Gln331=) rs11575996

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