ClinVar Miner

List of variants in gene TP53 reported as likely pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 77
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg) rs730882028 0.00001
NM_000546.6(TP53):c.530C>T (p.Pro177Leu) rs751477326 0.00001
NM_000546.6(TP53):c.685T>C (p.Cys229Arg) rs1064794312 0.00001
NM_000546.6(TP53):c.711G>A (p.Met237Ile) rs587782664 0.00001
NC_000017.10:g.(?_7577567)_(7577721_?)del
NC_000017.10:g.(?_7578171)_(7579918_?)dup
NC_000017.11:g.(?_7668402)_(7669690_?)del
NC_000017.11:g.(?_7669599)_(7669700_?)del
NC_000017.11:g.(?_7669599)_(7670725_?)del
NC_000017.11:g.(?_7669603)_(7670721_?)del
NC_000017.11:g.(?_7674811)_(7676594_?)dup
NC_000017.11:g.(?_7674849)_(7676604_?)dup
NM_000546.6(TP53):c.1000G>A (p.Gly334Arg) rs730882028
NM_000546.6(TP53):c.1010G>C (p.Arg337Pro) rs121912664
NM_000546.6(TP53):c.1043del (p.Leu348fs) rs2150994688
NM_000546.6(TP53):c.1046_1055del (p.Glu349fs) rs2150994409
NM_000546.6(TP53):c.1052del (p.Lys351fs) rs2150994507
NM_000546.6(TP53):c.1054del (p.Asp352fs) rs2150994429
NM_000546.6(TP53):c.1060C>T (p.Gln354Ter) rs755394212
NM_000546.6(TP53):c.1100+2T>A rs2150993637
NM_000546.6(TP53):c.1179dup (p.Ter394LeuextTer?) rs1131691024
NM_000546.6(TP53):c.283_375+21del rs1555526462
NM_000546.6(TP53):c.318C>G (p.Ser106Arg) rs1555526581
NM_000546.6(TP53):c.339C>A (p.Phe113Leu)
NM_000546.6(TP53):c.356C>G (p.Ala119Gly) rs2073451331
NM_000546.6(TP53):c.375+1dup rs1555526470
NM_000546.6(TP53):c.375G>C (p.Thr125=) rs55863639
NM_000546.6(TP53):c.376T>G (p.Tyr126Asp) rs886039483
NM_000546.6(TP53):c.378C>G (p.Tyr126Ter) rs1567554500
NM_000546.6(TP53):c.396G>C (p.Lys132Asn) rs866775781
NM_000546.6(TP53):c.396G>T (p.Lys132Asn) rs866775781
NM_000546.6(TP53):c.412G>C (p.Ala138Pro) rs28934875
NM_000546.6(TP53):c.464C>A (p.Thr155Asn) rs786202752
NM_000546.6(TP53):c.473G>C (p.Arg158Pro) rs587782144
NM_000546.6(TP53):c.527G>T (p.Cys176Phe) rs786202962
NM_000546.6(TP53):c.528C>G (p.Cys176Trp) rs1057519980
NM_000546.6(TP53):c.560-4_560-2del rs1060501212
NM_000546.6(TP53):c.560-9T>A rs794727781
NM_000546.6(TP53):c.569C>G (p.Pro190Arg) rs876660825
NM_000546.6(TP53):c.577C>T (p.His193Tyr) rs876658468
NM_000546.6(TP53):c.580C>T (p.Leu194Phe) rs587780071
NM_000546.6(TP53):c.581T>A (p.Leu194His) rs1057519998
NM_000546.6(TP53):c.589G>A (p.Val197Met) rs786204041
NM_000546.6(TP53):c.641A>G (p.His214Arg) rs1057519992
NM_000546.6(TP53):c.643A>C (p.Ser215Arg) rs886039484
NM_000546.6(TP53):c.643A>T (p.Ser215Cys)
NM_000546.6(TP53):c.655C>T (p.Pro219Ser) rs879253894
NM_000546.6(TP53):c.716A>G (p.Asn239Ser) rs1057519999
NM_000546.6(TP53):c.718A>G (p.Ser240Gly) rs1567549584
NM_000546.6(TP53):c.722C>G (p.Ser241Cys) rs28934573
NM_000546.6(TP53):c.737T>A (p.Met246Lys) rs587780074
NM_000546.6(TP53):c.742C>G (p.Arg248Gly) rs121912651
NM_000546.6(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_000546.6(TP53):c.747G>T (p.Arg249Ser) rs28934571
NM_000546.6(TP53):c.75-1G>A rs2151045740
NM_000546.6(TP53):c.75-2A>G rs1131691020
NM_000546.6(TP53):c.751A>T (p.Ile251Phe) rs730882007
NM_000546.6(TP53):c.752T>C (p.Ile251Thr) rs730882027
NM_000546.6(TP53):c.757A>G (p.Thr253Ala) rs1597364185
NM_000546.6(TP53):c.780_782+3del
NM_000546.6(TP53):c.782+2_782+6del rs1567548832
NM_000546.6(TP53):c.814G>C (p.Val272Leu) rs121912657
NM_000546.6(TP53):c.814G>T (p.Val272Leu) rs121912657
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr) rs763098116
NM_000546.6(TP53):c.832C>T (p.Pro278Ser) rs17849781
NM_000546.6(TP53):c.839G>C (p.Arg280Thr) rs121912660
NM_000546.6(TP53):c.843C>A (p.Asp281Glu) rs1057519984
NM_000546.6(TP53):c.88_96+1dup rs2151045431
NM_000546.6(TP53):c.919+15_919+17delinsTGGAAACGAATGGAATCATCATCGAATGGAAATGAAAGGAGTCATCATCTAATGGAATTGCATGGAATCATCATAAAATGGAATCGAATGGAATCAACATCAAATGGAATCAAATGGAATCATTGAACGGAATTGAATGGAATCGTCATCGAATGAATTGACTGCAATCATCGAATGGTCTCGAATGGAATCATCTTCAAATGGAATGGAATGGAATCATCGCATAGAATCGAATGGAATTATCATCGAATGGAATCGAATGGAATCAACATCAAACGGAAAAAAACGGAATTATCGAATGGAATCGAAGAGAATCATC
NM_000546.6(TP53):c.920-3_923del
NM_000546.6(TP53):c.920-4_920del rs2151012455
NM_000546.6(TP53):c.934_992dup (p.Ile332fs) rs2151010859
NM_000546.6(TP53):c.96+1G>A rs1131691003
NM_000546.6(TP53):c.96+1G>C rs1131691003
NM_000546.6(TP53):c.96+1del rs2151045418
NM_000546.6(TP53):c.96+2T>A rs2073505429
NM_000546.6(TP53):c.993+1del rs1131691033

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.