ClinVar Miner

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

Included ClinVar conditions (27):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 444
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00408
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_000546.6(TP53):c.91G>A (p.Val31Ile) rs201753350 0.00009
NM_007194.4(CHEK2):c.319+2T>A rs587782401 0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His) rs121908706 0.00007
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007 0.00005
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs) rs730881700 0.00003
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro) rs587782471 0.00003
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala) rs587780192 0.00003
NM_000546.6(TP53):c.523C>T (p.Arg175Cys) rs138729528 0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_007194.4(CHEK2):c.1033C>T (p.His345Tyr) rs864622537 0.00002
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser) rs200928781 0.00002
NM_007194.4(CHEK2):c.1175C>T (p.Ala392Val) rs373073383 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.375G>A (p.Thr125=) rs55863639 0.00001
NM_000546.6(TP53):c.376-1G>A rs868137297 0.00001
NM_000546.6(TP53):c.395A>G (p.Lys132Arg) rs1057519996 0.00001
NM_000546.6(TP53):c.455C>T (p.Pro152Leu) rs587782705 0.00001
NM_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144 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.536A>G (p.His179Arg) rs1057519991 0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 0.00001
NM_000546.6(TP53):c.613T>G (p.Tyr205Asp) rs1057520008 0.00001
NM_000546.6(TP53):c.658T>C (p.Tyr220His) rs530941076 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.725G>A (p.Cys242Tyr) rs121912655 0.00001
NM_000546.6(TP53):c.736A>G (p.Met246Val) rs483352695 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.840A>T (p.Arg280Ser) rs1567547687 0.00001
NM_000546.6(TP53):c.841G>A (p.Asp281Asn) rs764146326 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
NM_007194.4(CHEK2):c.1260-1G>A rs786201906 0.00001
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys) rs540635787 0.00001
NM_007194.4(CHEK2):c.319+1G>A rs765080766 0.00001
NM_007194.4(CHEK2):c.342G>A (p.Trp114Ter) rs756949505 0.00001
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322 0.00001
NM_007194.4(CHEK2):c.503C>T (p.Thr168Ile) rs730881684 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_007194.4(CHEK2):c.846+1G>C rs864622149 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
NC_000017.11:g.(?_7687377)_(7687550_?)del
NM_000546.6(TP53):c.-29+1G>T rs2151082372
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.1001_1006dup (p.Arg335_Glu336insGlyArg)
NM_000546.6(TP53):c.1006G>T (p.Glu336Ter)
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.1054_1055del (p.Asp352fs)
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+1G>T rs2150993650
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.1101-2_1101-1inv
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.241dup (p.Thr81fs) rs2073470833
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.298C>T (p.Gln100Ter) rs1567555994
NM_000546.6(TP53):c.298del (p.Gln100fs) rs1567556006
NM_000546.6(TP53):c.306del (p.Tyr103fs) rs2543627479
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.313_360dup (p.Gly105_Lys120dup) rs2073450690
NM_000546.6(TP53):c.316_336del (p.Ser106_Gly112del) rs2543625241
NM_000546.6(TP53):c.318C>G (p.Ser106Arg) rs1555526581
NM_000546.6(TP53):c.318dup (p.Tyr107fs) rs2543626787
NM_000546.6(TP53):c.319T>G (p.Tyr107Asp) rs368771578
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) rs1057523496
NM_000546.6(TP53):c.325_330del (p.Phe109_Arg110del) rs2543625720
NM_000546.6(TP53):c.326T>G (p.Phe109Cys) rs1064796722
NM_000546.6(TP53):c.327_328del (p.Phe109fs) rs1064795434
NM_000546.6(TP53):c.329G>C (p.Arg110Pro) rs11540654
NM_000546.6(TP53):c.329G>T (p.Arg110Leu) rs11540654
NM_000546.6(TP53):c.332T>A (p.Leu111Gln) rs1057519997
NM_000546.6(TP53):c.332T>C (p.Leu111Pro) rs1057519997
NM_000546.6(TP53):c.337T>G (p.Phe113Val) rs587781642
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.358A>G (p.Lys120Glu) rs121912658
NM_000546.6(TP53):c.373A>C (p.Thr125Pro) rs1057520003
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.375G>T (p.Thr125=) rs55863639
NM_000546.6(TP53):c.375_375+1dup rs1555526470
NM_000546.6(TP53):c.376-11_377del rs2151034180
NM_000546.6(TP53):c.376-1_381delinsT rs2543608350
NM_000546.6(TP53):c.376-2A>G rs786202799
NM_000546.6(TP53):c.376-6_376del rs2543608936
NM_000546.6(TP53):c.376T>G (p.Tyr126Asp) rs886039483
NM_000546.6(TP53):c.377A>G (p.Tyr126Cys) rs1555526335
NM_000546.6(TP53):c.378C>G (p.Tyr126Ter) rs1567554500
NM_000546.6(TP53):c.379T>A (p.Ser127Thr) rs1597371694
NM_000546.6(TP53):c.379T>C (p.Ser127Pro) rs1597371694
NM_000546.6(TP53):c.380C>A (p.Ser127Tyr) rs730881999
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) rs730881999
NM_000546.6(TP53):c.388C>T (p.Leu130Phe) rs863224683
NM_000546.6(TP53):c.38dup (p.Leu14fs) rs1555527002
NM_000546.6(TP53):c.390CAA[1] (p.Asn131del) rs879254214
NM_000546.6(TP53):c.392A>T (p.Asn131Ile) rs1131691037
NM_000546.6(TP53):c.392_398dup (p.Met133fs) rs2151033760
NM_000546.6(TP53):c.394A>C (p.Lys132Gln) rs747342068
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.400T>A (p.Phe134Ile) rs267605077
NM_000546.6(TP53):c.400T>G (p.Phe134Val) rs267605077
NM_000546.6(TP53):c.402T>A (p.Phe134Leu) rs1555526278
NM_000546.6(TP53):c.403T>C (p.Cys135Arg) rs1057519975
NM_000546.6(TP53):c.403T>G (p.Cys135Gly) rs1057519975
NM_000546.6(TP53):c.404G>A (p.Cys135Tyr) rs587781991
NM_000546.6(TP53):c.404G>T (p.Cys135Phe) rs587781991
NM_000546.6(TP53):c.409_417del (p.Leu137_Lys139del) rs2073395622
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr) rs587781288
NM_000546.6(TP53):c.422_433del (p.Cys141_Gln144del) rs2543603679
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.428T>G (p.Val143Gly) rs1555526241
NM_000546.6(TP53):c.430C>T (p.Gln144Ter) rs757274881
NM_000546.6(TP53):c.434T>A (p.Leu145Gln) rs587782197
NM_000546.6(TP53):c.434T>C (p.Leu145Pro) rs587782197
NM_000546.6(TP53):c.437G>A (p.Trp146Ter) rs1206165503
NM_000546.6(TP53):c.440T>A (p.Val147Asp) rs1453167097
NM_000546.6(TP53):c.440T>G (p.Val147Gly)
NM_000546.6(TP53):c.448_459del (p.Thr150_Pro153del) rs137852790
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.452C>G (p.Pro151Arg) rs1057520000
NM_000546.6(TP53):c.455C>G (p.Pro152Arg) rs587782705
NM_000546.6(TP53):c.459del (p.Gly154fs) rs2543601628
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.470T>A (p.Val157Asp) rs1131691023
NM_000546.6(TP53):c.470T>C (p.Val157Ala) rs1131691023
NM_000546.6(TP53):c.470T>G (p.Val157Gly) rs1131691023
NM_000546.6(TP53):c.470_471delinsGT (p.Val157Gly) rs2543600379
NM_000546.6(TP53):c.470_475del (p.Val157_Arg158del) rs1555526140
NM_000546.6(TP53):c.473G>C (p.Arg158Pro) rs587782144
NM_000546.6(TP53):c.473G>T (p.Arg158Leu) rs587782144
NM_000546.6(TP53):c.473_474delinsTT (p.Arg158Leu) rs1567553501
NM_000546.6(TP53):c.476C>A (p.Ala159Asp) rs1555526131
NM_000546.6(TP53):c.476C>T (p.Ala159Val) rs1555526131
NM_000546.6(TP53):c.481G>A (p.Ala161Thr) rs193920817
NM_000546.6(TP53):c.482C>A (p.Ala161Asp) rs1064795691
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.487T>A (p.Tyr163Asn) rs786203436
NM_000546.6(TP53):c.489_495del (p.Lys164fs) rs2543598421
NM_000546.6(TP53):c.490A>G (p.Lys164Glu) rs879254249
NM_000546.6(TP53):c.499C>T (p.Gln167Ter) rs1555526097
NM_000546.6(TP53):c.503A>G (p.His168Arg) rs867114783
NM_000546.6(TP53):c.514G>T (p.Val172Phe) rs1131691043
NM_000546.6(TP53):c.515T>A (p.Val172Asp) rs1131691021
NM_000546.6(TP53):c.517G>A (p.Val173Met) rs876660754
NM_000546.6(TP53):c.517G>T (p.Val173Leu) rs876660754
NM_000546.6(TP53):c.518T>A (p.Val173Glu) rs1057519747
NM_000546.6(TP53):c.518T>C (p.Val173Ala) rs1057519747
NM_000546.6(TP53):c.523C>G (p.Arg175Gly) rs138729528
NM_000546.6(TP53):c.524G>T (p.Arg175Leu) rs28934578
NM_000546.6(TP53):c.526T>A (p.Cys176Ser) rs967461896
NM_000546.6(TP53):c.526T>C (p.Cys176Arg) rs967461896
NM_000546.6(TP53):c.526T>G (p.Cys176Gly) rs967461896
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.529_546del (p.Pro177_Cys182del) rs2073361326
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.533A>C (p.His178Pro) rs1555526004
NM_000546.6(TP53):c.535C>A (p.His179Asn) rs587780070
NM_000546.6(TP53):c.536A>T (p.His179Leu) rs1057519991
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 rs2543589630
NM_000546.6(TP53):c.560-19_560-9del rs2073351094
NM_000546.6(TP53):c.560-1G>T rs1202793339
NM_000546.6(TP53):c.560-22_560del rs2543589392
NM_000546.6(TP53):c.560-2A>G rs1427441061
NM_000546.6(TP53):c.560-4_560-2del rs1060501212
NM_000546.6(TP53):c.560-9T>A rs794727781
NM_000546.6(TP53):c.564_581del (p.Ala189_Leu194del) rs2543587521
NM_000546.6(TP53):c.569C>T (p.Pro190Leu) rs876660825
NM_000546.6(TP53):c.577C>G (p.His193Asp) rs876658468
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.578A>T (p.His193Leu) 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.581T>G (p.Leu194Arg) rs1057519998
NM_000546.6(TP53):c.584T>G (p.Ile195Ser) rs760043106
NM_000546.6(TP53):c.587G>C (p.Arg196Pro) rs483352697
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>C (p.Tyr205His) rs1057520008
NM_000546.6(TP53):c.613_618del (p.Tyr205_Leu206del) rs2543584845
NM_000546.6(TP53):c.623A>T (p.Asp208Val) rs1464727668
NM_000546.6(TP53):c.632C>T (p.Thr211Ile) rs2073331490
NM_000546.6(TP53):c.637C>G (p.Arg213Gly) rs397516436
NM_000546.6(TP53):c.637_660del (p.Arg213_Tyr220del) rs2543581187
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) rs587778720
NM_000546.6(TP53):c.638G>T (p.Arg213Leu) 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>G (p.Ser215Gly) rs886039484
NM_000546.6(TP53):c.644G>A (p.Ser215Asn) rs587782177
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.646G>T (p.Val216Leu) rs730882025
NM_000546.6(TP53):c.646GTG[2] (p.Val218del) rs1597367938
NM_000546.6(TP53):c.653T>A (p.Val218Glu) rs1555525743
NM_000546.6(TP53):c.653T>G (p.Val218Gly) rs1555525743
NM_000546.6(TP53):c.655C>T (p.Pro219Ser) rs879253894
NM_000546.6(TP53):c.657_668del (p.Tyr220_Pro223del) rs876660749
NM_000546.6(TP53):c.658T>A (p.Tyr220Asn) rs530941076
NM_000546.6(TP53):c.658T>G (p.Tyr220Asp) rs530941076
NM_000546.6(TP53):c.672+1G>A rs863224499
NM_000546.6(TP53):c.672+1G>C rs863224499
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.673-1G>C rs878854073
NM_000546.6(TP53):c.673-2A>G rs1555525585
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.700T>C (p.Tyr234His) rs864622237
NM_000546.6(TP53):c.700T>G (p.Tyr234Asp) rs864622237
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_000546.6(TP53):c.703A>G (p.Asn235Asp) rs786204145
NM_000546.6(TP53):c.706T>A (p.Tyr236Asn) rs587782289
NM_000546.6(TP53):c.706T>C (p.Tyr236His) rs587782289
NM_000546.6(TP53):c.706T>G (p.Tyr236Asp) rs587782289
NM_000546.6(TP53):c.707A>G (p.Tyr236Cys) rs730882026
NM_000546.6(TP53):c.710T>A (p.Met237Lys) rs765848205
NM_000546.6(TP53):c.711G>C (p.Met237Ile) rs587782664
NM_000546.6(TP53):c.712T>C (p.Cys238Arg) rs1057519981
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.715A>G (p.Asn239Asp) rs876660807
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.721T>A (p.Ser241Thr) rs1057520002
NM_000546.6(TP53):c.721T>G (p.Ser241Ala) rs1057520002
NM_000546.6(TP53):c.722C>A (p.Ser241Tyr) rs28934573
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.724T>C (p.Cys242Arg) rs1057519982
NM_000546.6(TP53):c.725G>C (p.Cys242Ser) rs121912655
NM_000546.6(TP53):c.731G>A (p.Gly244Asp) rs985033810
NM_000546.6(TP53):c.731G>C (p.Gly244Ala) rs985033810
NM_000546.6(TP53):c.731G>T (p.Gly244Val) rs985033810
NM_000546.6(TP53):c.733G>C (p.Gly245Arg) rs28934575
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>C (p.Arg248Pro) rs11540652
NM_000546.6(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_000546.6(TP53):c.745A>G (p.Arg249Gly) rs587782082
NM_000546.6(TP53):c.745A>T (p.Arg249Trp) rs587782082
NM_000546.6(TP53):c.746G>C (p.Arg249Thr) rs587782329
NM_000546.6(TP53):c.746G>T (p.Arg249Met) rs587782329
NM_000546.6(TP53):c.747G>C (p.Arg249Ser) rs28934571
NM_000546.6(TP53):c.747G>T (p.Arg249Ser) rs28934571
NM_000546.6(TP53):c.747_748delinsTA (p.Arg249_Pro250delinsSerThr) rs2543559728
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>A (p.Ile251Asn) rs730882027
NM_000546.6(TP53):c.752T>C (p.Ile251Thr) rs730882027
NM_000546.6(TP53):c.752T>G (p.Ile251Ser) rs730882027
NM_000546.6(TP53):c.754_762del (p.Leu252_Ile254del) rs2073243450
NM_000546.6(TP53):c.757A>C (p.Thr253Pro) rs1597364185
NM_000546.6(TP53):c.757A>G (p.Thr253Ala) rs1597364185
NM_000546.6(TP53):c.758C>T (p.Thr253Ile) rs1555525465
NM_000546.6(TP53):c.759_767del (p.Ile254_Thr256del) rs2543557972
NM_000546.6(TP53):c.761T>A (p.Ile254Asn) rs1330865474
NM_000546.6(TP53):c.761T>C (p.Ile254Thr) rs1330865474
NM_000546.6(TP53):c.761TCA[1] (p.Ile255del) rs1064794309
NM_000546.6(TP53):c.763A>T (p.Ile255Phe) rs1057519995
NM_000546.6(TP53):c.764T>A (p.Ile255Asn) rs876659675
NM_000546.6(TP53):c.766A>C (p.Thr256Pro) rs587781433
NM_000546.6(TP53):c.770T>C (p.Leu257Pro) rs28934577
NM_000546.6(TP53):c.770_772del (p.Leu257_Glu258delinsGln) rs2543557542
NM_000546.6(TP53):c.772G>A (p.Glu258Lys) rs121912652
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>C rs1555525429
NM_000546.6(TP53):c.782+1G>T rs1555525429
NM_000546.6(TP53):c.782+2T>C rs876659076
NM_000546.6(TP53):c.782+2_782+6del rs1567548832
NM_000546.6(TP53):c.783-4_803delinsC
NM_000546.6(TP53):c.783-8_784del rs2543547725
NM_000546.6(TP53):c.784_785insAAGCC (p.Gly262fs) rs2543547618
NM_000546.6(TP53):c.792_794del (p.Leu265del) rs2543546928
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.808T>C (p.Phe270Leu) rs1057519988
NM_000546.6(TP53):c.809T>C (p.Phe270Ser) rs1057519986
NM_000546.6(TP53):c.809T>G (p.Phe270Cys) rs1057519986
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.814G>T (p.Val272Leu) rs121912657
NM_000546.6(TP53):c.815T>A (p.Val272Glu) rs876660333
NM_000546.6(TP53):c.815T>G (p.Val272Gly) rs876660333
NM_000546.6(TP53):c.817C>G (p.Arg273Gly) rs121913343
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.818G>C (p.Arg273Pro) rs28934576
NM_000546.6(TP53):c.820G>T (p.Val274Phe) rs1057520005
NM_000546.6(TP53):c.821T>G (p.Val274Gly) rs1057520006
NM_000546.6(TP53):c.823T>C (p.Cys275Arg) rs1057519983
NM_000546.6(TP53):c.823T>G (p.Cys275Gly) rs1057519983
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.830G>T (p.Cys277Phe) rs763098116
NM_000546.6(TP53):c.832C>A (p.Pro278Thr) rs17849781
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) rs17849781
NM_000546.6(TP53):c.832C>T (p.Pro278Ser) rs17849781
NM_000546.6(TP53):c.833C>A (p.Pro278His) rs876659802
NM_000546.6(TP53):c.833C>G (p.Pro278Arg) rs876659802
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.838A>G (p.Arg280Gly) rs753660142
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) rs121912660
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) rs121912660
NM_000546.6(TP53):c.840A>C (p.Arg280Ser) rs1567547687
NM_000546.6(TP53):c.841G>C (p.Asp281His) rs764146326
NM_000546.6(TP53):c.841G>T (p.Asp281Tyr) rs764146326
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.848G>C (p.Arg283Pro) rs371409680
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) rs786201059
NM_000546.6(TP53):c.856G>C (p.Glu286Gln) rs786201059
NM_000546.6(TP53):c.857A>C (p.Glu286Ala) rs1057519985
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.892del (p.Glu298fs) rs2073177507
NM_000546.6(TP53):c.917_919+6del rs1567546716
NM_000546.6(TP53):c.919+15_919+17delinsTGGAAACGAATGGAATCATCATCGAATGGAAATGAAAGGAGTCATCATCTAATGGAATTGCATGGAATCATCATAAAATGGAATCGAATGGAATCAACATCAAATGGAATCAAATGGAATCATTGAACGGAATTGAATGGAATCGTCATCGAATGAATTGACTGCAATCATCGAATGGTCTCGAATGGAATCATCTTCAAATGGAATGGAATGGAATCATCGCATAGAATCGAATGGAATTATCATCGAATGGAATCGAATGGAATCAACATCAAACGGAAAAAAACGGAATTATCGAATGGAATCGAAGAGAATCATC rs2543533564
NM_000546.6(TP53):c.919+1G>A rs1131691039
NM_000546.6(TP53):c.919+1G>C rs1131691039
NM_000546.6(TP53):c.919+1G>T rs1131691039
NM_000546.6(TP53):c.919+2T>G rs1131691016
NM_000546.6(TP53):c.920-2A>C rs397516439
NM_000546.6(TP53):c.920-2A>G rs397516439
NM_000546.6(TP53):c.920-3_920-1delinsACTGCCTCTTTCCACTTGCACCTTTC rs2543530416
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.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.97-11C>G rs769697802
NM_000546.6(TP53):c.97-1G>T rs1597375294
NM_000546.6(TP53):c.97-2A>C rs879254212
NM_000546.6(TP53):c.97-2del rs1567557258
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.994-1G>A rs587782272
NM_000546.6(TP53):c.994-1G>C rs587782272
NM_000546.6(TP53):c.994-2A>G rs867389695
NM_000546.6(TP53):c.994-3_1000del
NM_007194.4(CHEK2):c.1006del (p.Gln336fs)
NM_007194.4(CHEK2):c.1008+2T>G rs1555915295
NM_007194.4(CHEK2):c.100C>T (p.Gln34Ter) rs1231012263
NM_007194.4(CHEK2):c.1238del (p.Ser412_Leu413insTer) rs765664259
NM_007194.4(CHEK2):c.1259+1G>A rs121908707
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) rs587780174
NM_007194.4(CHEK2):c.1461+1del rs2517786195
NM_007194.4(CHEK2):c.1482G>C (p.Lys494Asn) rs767043399
NM_007194.4(CHEK2):c.1518del (p.Ala507fs)
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter) rs200432447
NM_007194.4(CHEK2):c.31C>T (p.Gln11Ter) rs1349961118
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter) rs536907995
NM_007194.4(CHEK2):c.593-2A>C rs2146007633
NM_007194.4(CHEK2):c.683+1G>A rs786203650
NM_007194.4(CHEK2):c.684-2A>G rs2053419665
NM_007194.4(CHEK2):c.688G>C (p.Ala230Pro) rs748636216
NM_007194.4(CHEK2):c.757A>T (p.Lys253Ter) rs786201896
NM_007194.4(CHEK2):c.793-1G>A rs730881687
NM_007194.4(CHEK2):c.793-2A>G rs1555920257
NM_007194.4(CHEK2):c.844C>G (p.His282Asp) rs774068238
NM_007194.4(CHEK2):c.846+1G>T rs864622149
NM_007194.4(CHEK2):c.846+4_846+7del rs764884641

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