ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 135
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HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.523C>T (p.Arg175Cys) rs138729528 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.395A>G (p.Lys132Arg) rs1057519996 0.00001
NM_000546.6(TP53):c.530C>T (p.Pro177Leu) rs751477326 0.00001
NM_000546.6(TP53):c.536A>G (p.His179Arg) rs1057519991 0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 0.00001
NM_000546.6(TP53):c.658T>C (p.Tyr220His) rs530941076 0.00001
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) rs121913343 0.00001
NM_000546.6(TP53):c.841G>A (p.Asp281Asn) rs764146326 0.00001
NC_000017.10:g.(7574034_7576852)_(7576927_7577018)dup
NC_000017.10:g.(?_7571752)_(7573018_?)del
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.1001_1006dup (p.Arg335_Glu336insGlyArg)
NM_000546.6(TP53):c.1006G>T (p.Glu336Ter)
NM_000546.6(TP53):c.1010G>C (p.Arg337Pro) rs121912664
NM_000546.6(TP53):c.1028del (p.Glu343fs) rs2150994907
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro) rs121912662
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.1179dup (p.Ter394LeuextTer?) rs1131691024
NM_000546.6(TP53):c.241dup (p.Thr81fs) rs2073470833
NM_000546.6(TP53):c.272G>A (p.Trp91Ter) rs2073465664
NM_000546.6(TP53):c.283_375+21del rs1555526462
NM_000546.6(TP53):c.298C>T (p.Gln100Ter) rs1567555994
NM_000546.6(TP53):c.306del (p.Tyr103fs) rs2543627479
NM_000546.6(TP53):c.313_360dup (p.Gly105_Lys120dup) rs2073450690
NM_000546.6(TP53):c.318C>G (p.Ser106Arg) rs1555526581
NM_000546.6(TP53):c.324_331delinsAAA (p.Phe109fs) rs2073455679
NM_000546.6(TP53):c.325T>A (p.Phe109Ile) rs1057523496
NM_000546.6(TP53):c.329G>T (p.Arg110Leu) rs11540654
NM_000546.6(TP53):c.339C>A (p.Phe113Leu) rs2151038938
NM_000546.6(TP53):c.356C>G (p.Ala119Gly) rs2073451331
NM_000546.6(TP53):c.375G>C (p.Thr125=) rs55863639
NM_000546.6(TP53):c.378C>G (p.Tyr126Ter) rs1567554500
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.427G>A (p.Val143Met) rs587782620
NM_000546.6(TP53):c.428T>G (p.Val143Gly) rs1555526241
NM_000546.6(TP53):c.434T>A (p.Leu145Gln) rs587782197
NM_000546.6(TP53):c.440T>G (p.Val147Gly)
NM_000546.6(TP53):c.464C>A (p.Thr155Asn) rs786202752
NM_000546.6(TP53):c.469G>T (p.Val157Phe) rs121912654
NM_000546.6(TP53):c.473G>C (p.Arg158Pro) rs587782144
NM_000546.6(TP53):c.482_487del (p.Ala161_Tyr163delinsAsp) rs2073376974
NM_000546.6(TP53):c.485T>G (p.Ile162Ser) rs587780069
NM_000546.6(TP53):c.490A>G (p.Lys164Glu) rs879254249
NM_000546.6(TP53):c.517G>A (p.Val173Met) rs876660754
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.533A>C (p.His178Pro) rs1555526004
NM_000546.6(TP53):c.538G>A (p.Glu180Lys) rs879253911
NM_000546.6(TP53):c.560-15_560-5del rs2543589630
NM_000546.6(TP53):c.560-4_560-2del rs1060501212
NM_000546.6(TP53):c.560-9T>A rs794727781
NM_000546.6(TP53):c.577C>T (p.His193Tyr) rs876658468
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.623A>T (p.Asp208Val) rs1464727668
NM_000546.6(TP53):c.637C>G (p.Arg213Gly) rs397516436
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.646G>A (p.Val216Met) rs730882025
NM_000546.6(TP53):c.646G>T (p.Val216Leu) rs730882025
NM_000546.6(TP53):c.655C>T (p.Pro219Ser) rs879253894
NM_000546.6(TP53):c.672+2T>A rs1555525703
NM_000546.6(TP53):c.673-39G>A
NM_000546.6(TP53):c.685T>C (p.Cys229Arg) rs1064794312
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.707A>G (p.Tyr236Cys) rs730882026
NM_000546.6(TP53):c.711G>C (p.Met237Ile) rs587782664
NM_000546.6(TP53):c.713G>T (p.Cys238Phe) rs730882005
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.731G>A (p.Gly244Asp) rs985033810
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>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) rs1330865474
NM_000546.6(TP53):c.770T>C (p.Leu257Pro) rs28934577
NM_000546.6(TP53):c.773A>G (p.Glu258Gly) rs1060501201
NM_000546.6(TP53):c.77_80delinsAAGAACGT (p.Leu26fs) rs397516438
NM_000546.6(TP53):c.780_782+3del rs2543556778
NM_000546.6(TP53):c.782+1G>T rs1555525429
NM_000546.6(TP53):c.782+2_782+6del rs1567548832
NM_000546.6(TP53):c.784_785insAAGCC (p.Gly262fs) rs2543547618
NM_000546.6(TP53):c.794T>A (p.Leu265Gln) 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.808T>C (p.Phe270Leu) rs1057519988
NM_000546.6(TP53):c.812A>T (p.Glu271Val) rs2151016523
NM_000546.6(TP53):c.814G>A (p.Val272Met) rs121912657
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.839G>C (p.Arg280Thr) rs121912660
NM_000546.6(TP53):c.843C>A (p.Asp281Glu) rs1057519984
NM_000546.6(TP53):c.869_870insTGAGGAAGAGAATCTCCGC (p.Lys291fs)
NM_000546.6(TP53):c.878_882del (p.Gly293fs)
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.919+15_919+17delinsTGGAAACGAATGGAATCATCATCGAATGGAAATGAAAGGAGTCATCATCTAATGGAATTGCATGGAATCATCATAAAATGGAATCGAATGGAATCAACATCAAATGGAATCAAATGGAATCATTGAACGGAATTGAATGGAATCGTCATCGAATGAATTGACTGCAATCATCGAATGGTCTCGAATGGAATCATCTTCAAATGGAATGGAATGGAATCATCGCATAGAATCGAATGGAATTATCATCGAATGGAATCGAATGGAATCAACATCAAACGGAAAAAAACGGAATTATCGAATGGAATCGAAGAGAATCATC rs2543533564
NM_000546.6(TP53):c.920-2A>G rs397516439
NM_000546.6(TP53):c.920-3_923del rs2543530106
NM_000546.6(TP53):c.920-4_920del rs2151012455
NM_000546.6(TP53):c.934_992dup (p.Ile332fs) rs2151010859
NM_000546.6(TP53):c.96+1del rs2151045418
NM_000546.6(TP53):c.97-11C>G rs769697802
NM_000546.6(TP53):c.97-5_98del
NM_000546.6(TP53):c.979_993+7del
NM_000546.6(TP53):c.993+1del rs1131691033
NM_000546.6(TP53):c.993G>A (p.Gln331=) rs11575996
NM_000546.6(TP53):c.994-3_1000del

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