ClinVar Miner

List of variants reported as pathogenic for Li-Fraumeni syndrome 1

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ClinVar version:
Total variants: 134
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HGVS dbSNP gnomAD frequency
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_000546.6(TP53):c.1010G>A (p.Arg337His) rs121912664 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.455C>T (p.Pro152Leu) rs587782705 0.00001
NM_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144 0.00001
NM_000546.6(TP53):c.524G>A (p.Arg175His) rs28934578 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.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_000546.6(TP53):c.711G>A (p.Met237Ile) rs587782664 0.00001
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr) rs121912655 0.00001
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575 0.00001
NM_000546.6(TP53):c.783-1G>A rs1555525367 0.00001
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) rs121913343 0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_000546.6(TP53):c.1015G>T (p.Glu339Ter) rs17882252
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) rs730882029
NM_000546.6(TP53):c.1024del (p.Arg342fs) rs1131691022
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro) rs121912662
NM_000546.6(TP53):c.1043_1064delinsGCA (p.Leu348fs)
NM_000546.6(TP53):c.154C>T (p.Gln52Ter) rs2151042795
NM_000546.6(TP53):c.158G>A (p.Trp53Ter) rs876658483
NM_000546.6(TP53):c.159G>A (p.Trp53Ter) rs1064794618
NM_000546.6(TP53):c.202G>T (p.Glu68Ter) rs869312782
NM_000546.6(TP53):c.216del (p.Val73fs) rs730882018
NM_000546.6(TP53):c.216dup (p.Val73fs) rs730882018
NM_000546.6(TP53):c.254del (p.Pro85fs) rs1064793279
NM_000546.6(TP53):c.257_279del (p.Ala86fs) rs886041861
NM_000546.6(TP53):c.261_263delinsTGGCCCCTGCCCCTCCTGGCCCCTGCCCCTG (p.Ala88fs)
NM_000546.6(TP53):c.271dup (p.Trp91fs) rs1597374152
NM_000546.6(TP53):c.273G>A (p.Trp91Ter) rs876660548
NM_000546.6(TP53):c.294_297del (p.Ser99fs) rs730882015
NM_000546.6(TP53):c.309C>G (p.Tyr103Ter) rs1597373901
NM_000546.6(TP53):c.322_327dup (p.Phe109_Arg110insGlyPhe)
NM_000546.6(TP53):c.323_329dup (p.Leu111fs) rs1131691004
NM_000546.6(TP53):c.328del (p.Arg110fs) rs587780066
NM_000546.6(TP53):c.329G>C (p.Arg110Pro) rs11540654
NM_000546.6(TP53):c.331_365dup (p.Thr123fs) rs1597373467
NM_000546.6(TP53):c.365_366del (p.Val122fs) rs587780067
NM_000546.6(TP53):c.374C>G (p.Thr125Arg) rs786201057
NM_000546.6(TP53):c.380C>A (p.Ser127Tyr) rs730881999
NM_000546.6(TP53):c.383del (p.Pro128fs) rs1597371666
NM_000546.6(TP53):c.38dup (p.Leu14fs) rs1555527002
NM_000546.6(TP53):c.390_426del (p.Asn131fs) rs1597371154
NM_000546.6(TP53):c.392A>T (p.Asn131Ile) rs1131691037
NM_000546.6(TP53):c.394A>G (p.Lys132Glu) rs747342068
NM_000546.6(TP53):c.398T>C (p.Met133Thr) rs28934873
NM_000546.6(TP53):c.412G>C (p.Ala138Pro) rs28934875
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr) rs587781288
NM_000546.6(TP53):c.437G>A (p.Trp146Ter) rs1206165503
NM_000546.6(TP53):c.438G>A (p.Trp146Ter) rs1131691026
NM_000546.6(TP53):c.454_466del (p.Pro152fs) rs876659215
NM_000546.6(TP53):c.455dup (p.Pro153fs) rs730882019
NM_000546.6(TP53):c.469G>T (p.Val157Phe) rs121912654
NM_000546.6(TP53):c.473G>T (p.Arg158Leu) rs587782144
NM_000546.6(TP53):c.493C>T (p.Gln165Ter) rs730882001
NM_000546.6(TP53):c.499C>T (p.Gln167Ter) rs1555526097
NM_000546.6(TP53):c.509_512del (p.Thr170fs) rs1555526082
NM_000546.6(TP53):c.523C>G (p.Arg175Gly) rs138729528
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_000546.6(TP53):c.528C>A (p.Cys176Ter)
NM_000546.6(TP53):c.52del (p.Thr18fs) rs876658627
NM_000546.6(TP53):c.532del (p.His178fs) rs786202525
NM_000546.6(TP53):c.535C>G (p.His179Asp) rs587780070
NM_000546.6(TP53):c.545_546insGTGAG (p.Cys182delinsTrpTer)
NM_000546.6(TP53):c.559G>C (p.Gly187Arg) rs776167460
NM_000546.6(TP53):c.560-2A>C rs1427441061
NM_000546.6(TP53):c.563del (p.Leu188fs) rs1597368970
NM_000546.6(TP53):c.574C>T (p.Gln192Ter) rs866380588
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_000546.6(TP53):c.586C>T (p.Arg196Ter) rs397516435
NM_000546.6(TP53):c.626_627del (p.Arg209fs) rs1057517840
NM_000546.6(TP53):c.628_629del (p.Asn210fs) rs587776768
NM_000546.6(TP53):c.636del (p.Arg213fs) rs864309495
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.642_643del (p.His214fs) rs1597368095
NM_000546.6(TP53):c.645del (p.Ser215fs) rs2151026447
NM_000546.6(TP53):c.651_666del (p.Val218fs) rs786202315
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser) rs121912666
NM_000546.6(TP53):c.662del (p.Glu221fs) rs878854071
NM_000546.6(TP53):c.672+1G>A rs863224499
NM_000546.6(TP53):c.673-1G>A rs878854073
NM_000546.6(TP53):c.673-2A>G rs1555525585
NM_000546.6(TP53):c.700T>C (p.Tyr234His) rs864622237
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_000546.6(TP53):c.712T>C (p.Cys238Arg) rs1057519981
NM_000546.6(TP53):c.722C>A (p.Ser241Tyr) rs28934573
NM_000546.6(TP53):c.730G>A (p.Gly244Ser) rs1057519989
NM_000546.6(TP53):c.731G>A (p.Gly244Asp) rs985033810
NM_000546.6(TP53):c.733G>T (p.Gly245Cys) rs28934575
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) rs121912656
NM_000546.6(TP53):c.734G>T (p.Gly245Val) rs121912656
NM_000546.6(TP53):c.736A>G (p.Met246Val) rs483352695
NM_000546.6(TP53):c.737T>C (p.Met246Thr) rs587780074
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.743_744insCCGCCCATGAACCTCCGGCATGAACCG (p.Pro250_Ile251insTerArgPro)
NM_000546.6(TP53):c.755T>C (p.Leu252Pro) rs121912653
NM_000546.6(TP53):c.772G>A (p.Glu258Lys) rs121912652
NM_000546.6(TP53):c.772G>T (p.Glu258Ter) rs121912652
NM_000546.6(TP53):c.785del (p.Gly262fs) rs879253905
NM_000546.6(TP53):c.790del (p.Leu264fs) rs1060501194
NM_000546.6(TP53):c.796G>A (p.Gly266Arg) rs1057519990
NM_000546.6(TP53):c.796G>C (p.Gly266Arg) rs1057519990
NM_000546.6(TP53):c.801dup (p.Asn268fs) rs1597362206
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.817C>A (p.Arg273Ser) rs121913343
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.818G>T (p.Arg273Leu) rs28934576
NM_000546.6(TP53):c.825T>A (p.Cys275Ter) rs1555525279
NM_000546.6(TP53):c.842A>G (p.Asp281Gly) rs587781525
NM_000546.6(TP53):c.844C>G (p.Arg282Gly) rs28934574
NM_000546.6(TP53):c.856G>A (p.Glu286Lys) rs786201059
NM_000546.6(TP53):c.875A>T (p.Lys292Ile) rs121912663
NM_000546.6(TP53):c.878_912dup (p.Lys305fs)
NM_000546.6(TP53):c.916C>T (p.Arg306Ter) rs121913344
NM_000546.6(TP53):c.919+1G>A rs1131691039
NM_000546.6(TP53):c.919+2T>G rs1131691016
NM_000546.6(TP53):c.920-1G>A rs587781702
NM_000546.6(TP53):c.920-1G>T rs587781702
NM_000546.6(TP53):c.976G>T (p.Glu326Ter) rs876659384
NM_000546.6(TP53):c.983dup (p.Thr329fs) rs886041285
NM_000546.6(TP53):c.993+1G>A rs11575997
NM_000546.6(TP53):c.993+1G>C rs11575997
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
TP53, 1-BP DEL, CODON 257
TP53, 11-BP DEL/5-BP INS

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