ClinVar Miner

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

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Total variants: 66
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HGVS dbSNP
NC_000017.10:g.(?_7571720)_(7573008_?)del
NC_000017.10:g.(?_7572921)_(7574039_?)del
NM_000546.5(TP53):c.-202_-29+?del
NM_000546.5(TP53):c.1010G>C (p.Arg337Pro) rs121912664
NM_000546.5(TP53):c.1060C>T (p.Gln354Ter) rs755394212
NM_000546.5(TP53):c.283_375+21del114 rs1555526462
NM_000546.5(TP53):c.374C>T (p.Thr125Met) rs786201057
NM_000546.5(TP53):c.375+1G>C
NM_000546.5(TP53):c.375+2T>A rs1555526469
NM_000546.5(TP53):c.375+2T>C rs1555526469
NM_000546.5(TP53):c.375G>T (p.Thr125=) rs55863639
NM_000546.5(TP53):c.376-1G>A rs868137297
NM_000546.5(TP53):c.376-2A>G rs786202799
NM_000546.5(TP53):c.376-2A>T rs786202799
NM_000546.5(TP53):c.378C>G (p.Tyr126Ter) rs1567554500
NM_000546.5(TP53):c.396G>C (p.Lys132Asn) rs866775781
NM_000546.5(TP53):c.412G>C (p.Ala138Pro) rs28934875
NM_000546.5(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_000546.5(TP53):c.473G>A (p.Arg158His) rs587782144
NM_000546.5(TP53):c.532C>G (p.His178Asp) rs1064795203
NM_000546.5(TP53):c.538G>A (p.Glu180Lys) rs879253911
NM_000546.5(TP53):c.542G>A (p.Arg181His) rs397514495
NM_000546.5(TP53):c.559+1G>T
NM_000546.5(TP53):c.560-4_560-2delTTA rs1060501212
NM_000546.5(TP53):c.577C>T (p.His193Tyr) rs876658468
NM_000546.5(TP53):c.578A>G (p.His193Arg) rs786201838
NM_000546.5(TP53):c.614A>G (p.Tyr205Cys) rs1057520007
NM_000546.5(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.5(TP53):c.672+2T>A rs1555525703
NM_000546.5(TP53):c.700T>C (p.Tyr234His) rs864622237
NM_000546.5(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_000546.5(TP53):c.713G>A (p.Cys238Tyr) rs730882005
NM_000546.5(TP53):c.718A>G (p.Ser240Gly) rs1567549584
NM_000546.5(TP53):c.722C>G (p.Ser241Cys) rs28934573
NM_000546.5(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.5(TP53):c.734G>T (p.Gly245Val) rs121912656
NM_000546.5(TP53):c.736A>G (p.Met246Val) rs483352695
NM_000546.5(TP53):c.737T>A (p.Met246Lys) rs587780074
NM_000546.5(TP53):c.741_742delinsTT (p.Arg248Trp) rs1555525498
NM_000546.5(TP53):c.742C>G (p.Arg248Gly) rs121912651
NM_000546.5(TP53):c.743G>C (p.Arg248Pro) rs11540652
NM_000546.5(TP53):c.761_763TCA[1] (p.Ile255del) rs1064794309
NM_000546.5(TP53):c.772G>A (p.Glu258Lys) rs121912652
NM_000546.5(TP53):c.77_80delinsAAGAACGT (p.Leu26fs) rs397516438
NM_000546.5(TP53):c.782+1G>T rs1555525429
NM_000546.5(TP53):c.782+2_782+6delTCAGG rs1567548832
NM_000546.5(TP53):c.783-1G>A rs1555525367
NM_000546.5(TP53):c.783-2A>G rs1060501207
NM_000546.5(TP53):c.797G>A (p.Gly266Glu) rs193920774
NM_000546.5(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.5(TP53):c.817C>A (p.Arg273Ser) rs121913343
NM_000546.5(TP53):c.817C>T (p.Arg273Cys) rs121913343
NM_000546.5(TP53):c.824G>A (p.Cys275Tyr) rs863224451
NM_000546.5(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000546.5(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_000546.5(TP53):c.848G>A (p.Arg283His) rs371409680
NM_000546.5(TP53):c.919+2T>G rs1131691016
NM_000546.5(TP53):c.920-1G>C rs587781702
NM_000546.5(TP53):c.920-2A>G rs397516439
NM_000546.5(TP53):c.97-1G>A
NM_000546.5(TP53):c.97-1G>T
NM_000546.5(TP53):c.993G>A (p.Gln331=) rs11575996
NM_001126118.1(TP53):c.258+1dup rs1555526470
NM_007194.4(CHEK2):c.1259+1G>A rs121908707
NM_007194.4(CHEK2):c.1434del (p.Glu479fs) rs786202601
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007

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