ClinVar Miner

List of variants in gene TP53 reported as pathogenic by GeneDx

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Gene type:
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Total variants: 61
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HGVS dbSNP
NM_000546.5(TP53):c.1010G>A (p.Arg337His) rs121912664
NM_000546.5(TP53):c.1024C>T (p.Arg342Ter) rs730882029
NM_000546.5(TP53):c.1040C>A (p.Ala347Asp) rs397516434
NM_000546.5(TP53):c.1125del (p.Gln375fs) rs730882017
NM_000546.5(TP53):c.159G>A (p.Trp53Ter) rs1064794618
NM_000546.5(TP53):c.216dup (p.Val73fs) rs730882018
NM_000546.5(TP53):c.254del (p.Pro85fs) rs1064793279
NM_000546.5(TP53):c.257_279del (p.Ala86fs) rs886041861
NM_000546.5(TP53):c.273G>A (p.Trp91Ter) rs876660548
NM_000546.5(TP53):c.294_297del (p.Ser99fs) rs730882015
NM_000546.5(TP53):c.328del (p.Arg110fs) rs587780066
NM_000546.5(TP53):c.340_346dup (p.Ser116fs) rs1555526524
NM_000546.5(TP53):c.358A>G (p.Lys120Glu) rs121912658
NM_000546.5(TP53):c.375G>A (p.Thr125=) rs55863639
NM_000546.5(TP53):c.445del (p.Ser149fs) rs1064793929
NM_000546.5(TP53):c.455dup (p.Pro153fs) rs730882019
NM_000546.5(TP53):c.473G>A (p.Arg158His) rs587782144
NM_000546.5(TP53):c.488A>G (p.Tyr163Cys) rs148924904
NM_000546.5(TP53):c.493C>T (p.Gln165Ter) rs730882001
NM_000546.5(TP53):c.499C>T (p.Gln167Ter) rs1555526097
NM_000546.5(TP53):c.517G>A (p.Val173Met) rs876660754
NM_000546.5(TP53):c.524G>A (p.Arg175His) rs28934578
NM_000546.5(TP53):c.535C>T (p.His179Tyr) rs587780070
NM_000546.5(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_000546.5(TP53):c.586C>T (p.Arg196Ter) rs397516435
NM_000546.5(TP53):c.637C>T (p.Arg213Ter) rs397516436
NM_000546.5(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.5(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.5(TP53):c.659A>G (p.Tyr220Cys) rs121912666
NM_000546.5(TP53):c.673-1G>A rs878854073
NM_000546.5(TP53):c.685_692del (p.Cys229fs) rs730882016
NM_000546.5(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_000546.5(TP53):c.716_717insT (p.Ser240fs) rs1131691541
NM_000546.5(TP53):c.724T>C (p.Cys242Arg) rs1057519982
NM_000546.5(TP53):c.733G>A (p.Gly245Ser) rs28934575
NM_000546.5(TP53):c.733G>T (p.Gly245Cys) rs28934575
NM_000546.5(TP53):c.737T>G (p.Met246Arg) rs587780074
NM_000546.5(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.5(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_000546.5(TP53):c.751A>C (p.Ile251Leu) rs730882007
NM_000546.5(TP53):c.772G>A (p.Glu258Lys) rs121912652
NM_000546.5(TP53):c.785del (p.Gly262fs) rs879253905
NM_000546.5(TP53):c.794T>C (p.Leu265Pro) rs879253942
NM_000546.5(TP53):c.817C>T (p.Arg273Cys) rs121913343
NM_000546.5(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.5(TP53):c.824G>A (p.Cys275Tyr) rs863224451
NM_000546.5(TP53):c.832C>T (p.Pro278Ser) rs17849781
NM_000546.5(TP53):c.836G>A (p.Gly279Glu) rs1064793881
NM_000546.5(TP53):c.842A>T (p.Asp281Val) rs587781525
NM_000546.5(TP53):c.844C>T (p.Arg282Trp) rs28934574
NM_000546.5(TP53):c.856G>A (p.Glu286Lys) rs786201059
NM_000546.5(TP53):c.880G>T (p.Glu294Ter) rs1057520607
NM_000546.5(TP53):c.90_91insA (p.Val31fs) rs1131691618
NM_000546.5(TP53):c.916C>T (p.Arg306Ter) rs121913344
NM_000546.5(TP53):c.920-1G>A rs587781702
NM_000546.5(TP53):c.920-2A>G rs397516439
NM_000546.5(TP53):c.97-2A>G rs879254212
NM_000546.5(TP53):c.983dup (p.Thr329fs) rs886041285
NM_000546.5(TP53):c.993+1G>C rs11575997
NM_001126112.2(TP53):c.363_364TG[1] (p.Val122fs) rs587780067
NM_001126112.2(TP53):c.626_627del (p.Arg209fs) rs1057517840

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