ClinVar Miner

List of variants studied for Li-Fraumeni syndrome by ClinGen TP53 Variant Curation Expert Panel, ClinGen

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 119
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HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) rs1800371 0.00123
NM_000546.5(TP53):c.319T>C (p.Tyr107His) rs368771578 0.00028
NM_000546.6(TP53):c.704A>G (p.Asn235Ser) rs144340710 0.00025
NM_000546.6(TP53):c.1079G>C (p.Gly360Ala) rs35993958 0.00019
NM_000546.6(TP53):c.935C>G (p.Thr312Ser) rs145151284 0.00018
NM_000546.6(TP53):c.869G>A (p.Arg290His) rs55819519 0.00014
NM_000546.6(TP53):c.217G>A (p.Val73Met) rs587782423 0.00011
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) rs149633775 0.00009
NM_000546.6(TP53):c.1096T>G (p.Ser366Ala) rs17881470 0.00004
NM_000546.6(TP53):c.28G>A (p.Val10Ile) rs535274413 0.00004
NM_000546.6(TP53):c.469G>A (p.Val157Ile) rs121912654 0.00004
NM_000546.6(TP53):c.554G>A (p.Ser185Asn) rs150607408 0.00004
NM_000546.6(TP53):c.868C>T (p.Arg290Cys) rs770374782 0.00004
NM_000546.6(TP53):c.883C>T (p.Pro295Ser) rs1131691006 0.00004
NM_000546.6(TP53):c.998G>A (p.Arg333His) rs573154688 0.00004
NM_000546.6(TP53):c.105G>C (p.Leu35Phe) rs121912661 0.00003
NM_000546.6(TP53):c.1120G>C (p.Gly374Arg) rs587781858 0.00003
NM_000546.6(TP53):c.188C>G (p.Ala63Gly) rs372201428 0.00003
NM_000546.6(TP53):c.214C>G (p.Pro72Ala) rs587782769 0.00003
NM_000546.6(TP53):c.329G>A (p.Arg110His) rs11540654 0.00003
NM_000546.6(TP53):c.467G>A (p.Arg156His) rs371524413 0.00003
NM_000546.6(TP53):c.509C>T (p.Thr170Met) rs779000871 0.00003
NM_000546.6(TP53):c.1060C>A (p.Gln354Lys) rs755394212 0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_000546.6(TP53):c.784G>A (p.Gly262Ser) rs200579969 0.00002
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg) rs730882028 0.00001
NM_000546.6(TP53):c.1025G>A (p.Arg342Gln) rs375338359 0.00001
NM_000546.6(TP53):c.1066G>C (p.Gly356Arg) rs766786605 0.00001
NM_000546.6(TP53):c.1136G>A (p.Arg379His) rs863224682 0.00001
NM_000546.6(TP53):c.1150A>G (p.Met384Val) rs730882009 0.00001
NM_000546.6(TP53):c.1151T>C (p.Met384Thr) rs1060501196 0.00001
NM_000546.6(TP53):c.145G>A (p.Asp49Asn) rs587780728 0.00001
NM_000546.6(TP53):c.188C>T (p.Ala63Val) rs372201428 0.00001
NM_000546.6(TP53):c.21T>A (p.Asp7Glu) rs587781277 0.00001
NM_000546.6(TP53):c.221C>T (p.Ala74Val) rs587781832 0.00001
NM_000546.6(TP53):c.245C>T (p.Pro82Leu) rs534447939 0.00001
NM_000546.6(TP53):c.250G>A (p.Ala84Thr) rs587781307 0.00001
NM_000546.6(TP53):c.353C>T (p.Thr118Ile) rs1064794141 0.00001
NM_000546.6(TP53):c.370T>A (p.Cys124Ser) rs730881997 0.00001
NM_000546.6(TP53):c.37C>T (p.Pro13Ser) rs1060501208 0.00001
NM_000546.6(TP53):c.393C>A (p.Asn131Lys) rs769270327 0.00001
NM_000546.6(TP53):c.455C>T (p.Pro152Leu) rs587782705 0.00001
NM_000546.6(TP53):c.461G>A (p.Gly154Asp) rs762846821 0.00001
NM_000546.6(TP53):c.480G>A (p.Met160Ile) rs772354334 0.00001
NM_000546.6(TP53):c.488A>G (p.Tyr163Cys) rs148924904 0.00001
NM_000546.6(TP53):c.523C>T (p.Arg175Cys) rs138729528 0.00001
NM_000546.6(TP53):c.556G>A (p.Asp186Asn) rs1060501206 0.00001
NM_000546.6(TP53):c.572C>G (p.Pro191Arg) rs587778718 0.00001
NM_000546.6(TP53):c.578A>C (p.His193Pro) rs786201838 0.00001
NM_000546.6(TP53):c.607G>A (p.Val203Met) rs730882003 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.733G>A (p.Gly245Ser) rs28934575 0.00001
NM_000546.6(TP53):c.760A>G (p.Ile254Val) rs746601313 0.00001
NM_000546.6(TP53):c.800G>A (p.Arg267Gln) rs587780075 0.00001
NM_000546.6(TP53):c.851C>T (p.Thr284Ile) rs863224685 0.00001
NM_000546.6(TP53):c.875A>G (p.Lys292Arg) rs121912663 0.00001
NM_000546.6(TP53):c.877G>T (p.Gly293Trp) rs587780076 0.00001
NM_000546.6(TP53):c.907A>G (p.Ser303Gly) rs587782391 0.00001
NM_000546.6(TP53):c.943T>A (p.Ser315Thr) rs762620193 0.00001
NM_000546.6(TP53):c.946C>A (p.Pro316Thr) rs772773208 0.00001
NM_000546.6(TP53):c.949C>A (p.Gln317Lys) rs764735889 0.00001
NM_000546.6(TP53):c.1003C>T (p.Arg335Cys) rs375444154
NM_000546.6(TP53):c.1009C>A (p.Arg337Ser) rs587782529
NM_000546.6(TP53):c.1015G>C (p.Glu339Gln) rs17882252
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.107C>A (p.Pro36Gln) rs587781866
NM_000546.6(TP53):c.1093C>T (p.His365Tyr) rs267605075
NM_000546.6(TP53):c.1102C>T (p.His368Tyr) rs786204227
NM_000546.6(TP53):c.1135C>A (p.Arg379Ser) rs749061599
NM_000546.6(TP53):c.1136G>T (p.Arg379Leu) rs863224682
NM_000546.6(TP53):c.1163A>C (p.Glu388Ala) rs587781736
NM_000546.6(TP53):c.11C>T (p.Pro4Leu) rs878854064
NM_000546.6(TP53):c.144C>A (p.Asp48Glu) rs587781460
NM_000546.6(TP53):c.145G>C (p.Asp49His) rs587780728
NM_000546.6(TP53):c.149T>C (p.Ile50Thr) rs370502517
NM_000546.6(TP53):c.206C>G (p.Ala69Gly) rs756233241
NM_000546.6(TP53):c.214_215delinsTG (p.Pro72Cys) rs730882014
NM_000546.6(TP53):c.215C>A (p.Pro72His) rs1042522
NM_000546.6(TP53):c.28G>C (p.Val10Leu) rs535274413
NM_000546.6(TP53):c.322G>A (p.Gly108Ser) rs587782461
NM_000546.6(TP53):c.344A>G (p.His115Arg) rs730881996
NM_000546.6(TP53):c.364G>A (p.Val122Met) rs587781495
NM_000546.6(TP53):c.372C>A (p.Cys124Ter) rs1555526478
NM_000546.6(TP53):c.380C>A (p.Ser127Tyr) rs730881999
NM_000546.6(TP53):c.396G>C (p.Lys132Asn) rs866775781
NM_000546.6(TP53):c.403T>G (p.Cys135Gly) rs1057519975
NM_000546.6(TP53):c.428T>C (p.Val143Ala) rs1555526241
NM_000546.6(TP53):c.431A>T (p.Gln144Leu) rs786203071
NM_000546.6(TP53):c.436T>G (p.Trp146Gly) rs786203064
NM_000546.6(TP53):c.46C>A (p.Gln16Lys) rs2151047550
NM_000546.6(TP53):c.482_487del (p.Ala161_Tyr163delinsAsp) rs2073376974
NM_000546.6(TP53):c.511G>A (p.Glu171Lys) rs587781845
NM_000546.6(TP53):c.517G>A (p.Val173Met) rs876660754
NM_000546.6(TP53):c.532C>G (p.His178Asp) rs1064795203
NM_000546.6(TP53):c.537T>A (p.His179Gln) rs876660821
NM_000546.6(TP53):c.538G>A (p.Glu180Lys) rs879253911
NM_000546.6(TP53):c.541C>A (p.Arg181Ser) rs587782596
NM_000546.6(TP53):c.569C>T (p.Pro190Leu) rs876660825
NM_000546.6(TP53):c.636del (p.Arg213fs) rs864309495
NM_000546.6(TP53):c.641A>G (p.His214Arg) rs1057519992
NM_000546.6(TP53):c.673-5C>G rs876658684
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_000546.6(TP53):c.779C>A (p.Ser260Tyr) rs876658916
NM_000546.6(TP53):c.814G>A (p.Val272Met) rs121912657
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.845G>T (p.Arg282Leu) rs730882008
NM_000546.6(TP53):c.85AAC[1] (p.Asn30del) rs587782270
NM_000546.6(TP53):c.866T>C (p.Leu289Pro) rs2151014987
NM_000546.6(TP53):c.886C>T (p.His296Tyr) rs672601296
NM_000546.6(TP53):c.892G>A (p.Glu298Lys) rs201744589
NM_000546.6(TP53):c.892G>T (p.Glu298Ter) rs201744589
NM_000546.6(TP53):c.919+1G>A rs1131691039
NM_000546.6(TP53):c.97-1G>A rs1597375294
NM_000546.6(TP53):c.97-3C>T rs786203749
NM_000546.6(TP53):c.993+1del rs1131691033
NM_000546.6(TP53):c.997C>T (p.Arg333Cys) rs769934890

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