ClinVar Miner

List of variants in gene TP53 reported as pathogenic by German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne

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Gene type:
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Total variants: 87
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HGVS dbSNP
NM_000546.5(TP53):c.1014_1015insT (p.Glu339Ter) rs1567542146
NM_000546.5(TP53):c.1024C>T (p.Arg342Ter) rs730882029
NM_000546.5(TP53):c.1024del (p.Arg342fs) rs1131691022
NM_000546.5(TP53):c.1027_1034del (p.Arg342_Glu343insTer) rs1567542043
NM_000546.5(TP53):c.1036G>T (p.Glu346Ter) rs1567542019
NM_000546.5(TP53):c.1036del (p.Glu346fs) rs1567542031
NM_000546.5(TP53):c.1045G>T (p.Glu349Ter) rs1567541975
NM_000546.5(TP53):c.153dup (p.Gln52fs) rs1567556914
NM_000546.5(TP53):c.155_158dup (p.Trp53Ter) rs1195793509
NM_000546.5(TP53):c.158G>A (p.Trp53Ter) rs876658483
NM_000546.5(TP53):c.176del (p.Gly59fs) rs1567556784
NM_000546.5(TP53):c.193A>T (p.Arg65Ter) rs1555526721
NM_000546.5(TP53):c.216del (p.Val73fs) rs730882018
NM_000546.5(TP53):c.224dup (p.Ala76fs) rs1567556454
NM_000546.5(TP53):c.246_253del (p.Ala83fs) rs1567556270
NM_000546.5(TP53):c.247del (p.Ala83fs) rs867725248
NM_000546.5(TP53):c.260_270del (p.Pro87fs) rs1567556165
NM_000546.5(TP53):c.267dup (p.Ser90fs) rs587783062
NM_000546.5(TP53):c.273G>A (p.Trp91Ter) rs876660548
NM_000546.5(TP53):c.277del (p.Leu93fs) rs1567556123
NM_000546.5(TP53):c.278del (p.Leu93fs) rs1567556114
NM_000546.5(TP53):c.284_288del (p.Ser95fs) rs878854068
NM_000546.5(TP53):c.298C>T (p.Gln100Ter) rs1567555994
NM_000546.5(TP53):c.298del (p.Gln100fs) rs1567556006
NM_000546.5(TP53):c.310C>T (p.Gln104Ter) rs1567555934
NM_000546.5(TP53):c.310del (p.Gln104fs) rs1567555939
NM_000546.5(TP53):c.341T>A (p.Leu114Ter) rs781724995
NM_000546.5(TP53):c.361_371del (p.Ser121fs) rs1567555504
NM_000546.5(TP53):c.363_364TG[1] (p.Val122fs) rs587780067
NM_000546.5(TP53):c.371dup (p.Cys124fs) rs1267047192
NM_000546.5(TP53):c.376del (p.Tyr126fs) rs1567554542
NM_000546.5(TP53):c.393del (p.Asn131fs) rs1567554408
NM_000546.5(TP53):c.415A>T (p.Lys139Ter) rs1212996409
NM_000546.5(TP53):c.430C>T (p.Gln144Ter) rs757274881
NM_000546.5(TP53):c.437G>A (p.Trp146Ter) rs1206165503
NM_000546.5(TP53):c.439del (p.Val147fs) rs1567553924
NM_000546.5(TP53):c.445del (p.Ser149fs) rs1064793929
NM_000546.5(TP53):c.445dup (p.Ser149fs) rs1064793929
NM_000546.5(TP53):c.450_452delinsT (p.Pro152fs) rs1567553834
NM_000546.5(TP53):c.454_466del (p.Pro152fs) rs876659215
NM_000546.5(TP53):c.455del (p.Pro152fs) rs730882019
NM_000546.5(TP53):c.460_463del (p.Gly154fs) rs1567553658
NM_000546.5(TP53):c.471_474del (p.Arg158fs) rs1567553514
NM_000546.5(TP53):c.493C>T (p.Gln165Ter) rs730882001
NM_000546.5(TP53):c.497C>G (p.Ser166Ter) rs1555526101
NM_000546.5(TP53):c.511G>T (p.Glu171Ter) rs587781845
NM_000546.5(TP53):c.532del (p.His178fs) rs786202525
NM_000546.5(TP53):c.533_540del (p.His178fs) rs1567552637
NM_000546.5(TP53):c.538G>T (p.Glu180Ter) rs879253911
NM_000546.5(TP53):c.545del (p.Cys182fs) rs1567552584
NM_000546.5(TP53):c.548C>G (p.Ser183Ter) rs1555525970
NM_000546.5(TP53):c.551del (p.Asp184fs) rs1567552536
NM_000546.5(TP53):c.582del (p.Ile195fs) rs1567552031
NM_000546.5(TP53):c.586C>T (p.Arg196Ter) rs397516435
NM_000546.5(TP53):c.592G>T (p.Glu198Ter) rs1567551854
NM_000546.5(TP53):c.595G>T (p.Gly199Ter) rs1567551821
NM_000546.5(TP53):c.609_610delinsCT (p.Glu204Ter) rs1567551718
NM_000546.5(TP53):c.626_627del (p.Arg209fs) rs1057517840
NM_000546.5(TP53):c.635_636del (p.Phe212fs) rs864309495
NM_000546.5(TP53):c.637C>T (p.Arg213Ter) rs397516436
NM_000546.5(TP53):c.643dup (p.Ser215fs) rs1567551402
NM_000546.5(TP53):c.646_648GTG[2] (p.Val218del)
NM_000546.5(TP53):c.647_651dup (p.Val218fs) rs1567551279
NM_000546.5(TP53):c.660T>A (p.Tyr220Ter) rs1567551150
NM_000546.5(TP53):c.661G>T (p.Glu221Ter) rs786201592
NM_000546.5(TP53):c.665del (p.Pro222fs) rs1567551073
NM_000546.5(TP53):c.672del rs1567550969
NM_000546.5(TP53):c.675del (p.Gly226fs) rs1567550076
NM_000546.5(TP53):c.680del (p.Ser227fs) rs1567550018
NM_000546.5(TP53):c.681dup (p.Asp228Ter) rs1567550002
NM_000546.5(TP53):c.714dup (p.Asn239Ter) rs1567549651
NM_000546.5(TP53):c.750del (p.Ile251fs) rs1567549203
NM_000546.5(TP53):c.759del (p.Ile254fs) rs1567549129
NM_000546.5(TP53):c.772G>T (p.Glu258Ter) rs121912652
NM_000546.5(TP53):c.797del (p.Gly266fs) rs1567548223
NM_000546.5(TP53):c.810del (p.Phe270fs) rs1567548114
NM_000546.5(TP53):c.856G>T (p.Glu286Ter) rs786201059
NM_000546.5(TP53):c.888_892del (p.His296fs) rs1567547030
NM_000546.5(TP53):c.892G>T (p.Glu298Ter) rs201744589
NM_000546.5(TP53):c.908_909insGGGG (p.Ser303fs) rs1567546889
NM_000546.5(TP53):c.916C>T (p.Arg306Ter) rs121913344
NM_000546.5(TP53):c.933del (p.Asn311fs) rs1567546373
NM_000546.5(TP53):c.937_946del (p.Ser313fs) rs1567546226
NM_000546.5(TP53):c.949del (p.Gln317fs) rs1567546196
NM_000546.5(TP53):c.976G>T (p.Glu326Ter) rs876659384
NM_000546.5(TP53):c.978_979AT[1] (p.Tyr327fs)
NM_000546.5(TP53):c.996_997del (p.Ile332fs) rs1567542299

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