ClinVar Miner

Variants with conflicting interpretations studied for Li-Fraumeni syndrome

Coded as:
Minimum review status of the submission for Li-Fraumeni syndrome: Y axis collection method of the submission for Li-Fraumeni syndrome:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
308 219 6 98 48 6 116 241

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Li-Fraumeni syndrome pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor
pathogenic 0 60 5 1 0 2 1
likely pathogenic 24 1 11 0 0 0 0
uncertain significance 15 102 4 42 10 0 1
likely benign 1 4 15 0 14 0 1
benign 0 0 7 5 1 1 0

Condition to condition summary #

Total conditions: 74
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
Hereditary cancer-predisposing syndrome 0 229 0 43 39 0 43 115
Squamous cell carcinoma of the head and neck 0 25 0 40 9 0 54 100
Lung adenocarcinoma 0 15 0 36 0 0 60 95
Neoplasm of the breast 0 21 0 34 0 0 61 94
Ovarian Serous Cystadenocarcinoma 0 17 0 34 0 0 58 91
Hepatocellular carcinoma 0 14 0 35 0 0 51 85
Pancreatic adenocarcinoma 0 17 0 32 0 0 53 84
Adenocarcinoma of stomach 0 12 0 34 0 0 50 83
Carcinoma of esophagus 0 17 0 29 0 0 53 81
Squamous cell lung carcinoma 0 13 0 31 0 0 49 79
Neoplasm of brain 0 15 0 31 0 0 48 78
Neoplasm of the large intestine 0 16 0 31 0 0 48 78
not provided 0 137 3 27 23 0 23 70
Ovarian Neoplasms 0 32 0 30 0 0 37 65
Uterine Carcinosarcoma 0 12 0 28 0 0 32 60
Glioblastoma 0 13 0 27 0 0 33 59
Transitional cell carcinoma of the bladder 0 15 0 26 0 0 34 59
Malignant neoplasm of body of uterus 0 10 0 27 0 0 30 56
Malignant melanoma of skin 0 8 0 23 0 0 28 50
Small cell lung cancer 0 8 0 17 0 0 25 42
Squamous cell carcinoma of the skin 0 6 0 14 0 0 23 36
Adenocarcinoma of prostate 0 9 0 18 0 0 18 35
Acute myeloid leukemia 0 6 0 15 0 0 19 34
Multiple myeloma 0 7 0 16 0 0 18 34
Li-Fraumeni syndrome 1 0 45 0 16 12 0 5 32
not specified 0 31 0 9 20 0 4 31
Chronic lymphocytic leukemia 0 7 0 16 0 0 13 29
Li-Fraumeni syndrome 715 27 0 5 15 0 7 26
Brainstem glioma 0 9 0 14 0 0 9 23
Renal cell carcinoma, papillary, 1 0 5 0 11 0 0 13 23
Adrenocortical carcinoma 0 6 0 6 0 0 11 17
Uterine cervical neoplasms 0 1 0 2 0 0 10 12
Medulloblastoma 0 3 0 7 0 0 4 11
Carcinoma of gallbladder 0 2 0 3 0 0 4 7
Nasopharyngeal Neoplasms 0 0 0 2 0 0 5 7
Neoplasm 0 0 0 6 0 0 0 6
Non-Hodgkin lymphoma 0 3 0 2 0 0 5 6
Adenoid cystic carcinoma 0 1 0 2 0 0 3 5
Malignant tumor of prostate 0 0 3 0 0 0 3 5
Neuroblastoma 0 0 0 4 0 0 1 5
Papillary renal cell carcinoma, sporadic 0 4 0 3 0 0 1 4
Myelodysplastic syndrome 0 2 0 3 0 0 0 3
Astrocytoma 0 0 0 0 0 0 2 2
Familial colorectal cancer 0 0 0 0 0 0 2 2
Li-Fraumeni-like syndrome 0 3 0 0 0 0 2 2
PARP Inhibitor response 0 0 0 0 0 2 0 2
Adenocarcinoma 0 0 0 1 0 0 0 1
Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma susceptibility 1; Osteosarcoma; Li-Fraumeni syndrome 1; Nasopharyngeal carcinoma; Carcinoma of pancreas; Choroid plexus papilloma; Carcinoma of colon; Basal cell carcinoma, susceptibility to, 7; Hepatocellular carcinoma 0 7 0 0 1 0 0 1
Astrocytoma, anaplastic; Pleomorphic xanthoastrocytoma 0 0 0 0 0 0 1 1
Basal cell carcinoma, susceptibility to, 7 0 0 0 0 0 1 0 1
Breast adenocarcinoma 0 1 0 1 0 0 0 1
Breast and colorectal cancer, susceptibility to 0 0 0 0 0 1 0 1
Breast cancer, susceptibility to 0 0 0 0 0 1 0 1
Carcinoma of cervix 0 0 0 0 0 0 1 1
Dyskeratosis Congenita, Recessive 0 4 0 1 0 0 0 1
Familial cancer of breast 0 4 0 0 1 0 0 1
Glioma susceptibility 1 0 0 0 0 0 1 0 1
Head and Neck Neoplasms 0 0 0 1 0 0 0 1
Hepatoblastoma 0 0 0 1 0 0 0 1
Li-Fraumeni syndrome 2 0 1 0 1 0 0 0 1
Lymphoma 0 0 0 1 0 0 0 1
Metastatic pancreatic neuroendocrine tumours 0 0 0 1 0 0 0 1
Nasopharyngeal carcinoma 0 0 0 0 0 0 1 1
Neoplasm of ovary 0 0 0 0 0 0 1 1
Neoplasm of stomach 0 0 0 0 0 0 1 1
Osteosarcoma 0 0 0 1 0 0 0 1
Prostate cancer, susceptibility to 0 0 0 0 0 1 0 1
Rhabdomyosarcoma 0 0 0 0 1 0 0 1
Vulvar adenocarcinoma of mammary gland type 0 0 0 1 0 0 0 1
antineoplastic agents response - Efficacy, Toxicity/ADR 0 0 0 0 0 1 0 1
cisplatin response - Efficacy, Toxicity/ADR 0 0 0 0 0 1 0 1
cyclophosphamide response - Efficacy, Toxicity/ADR 0 0 0 0 0 1 0 1
fluorouracil response - Efficacy, Toxicity/ADR 0 0 0 0 0 1 0 1
paclitaxel response - Efficacy, Toxicity/ADR 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 241
Download table as spreadsheet
HGVS dbSNP
NM_000546.5(TP53):c.319T>C (p.Tyr107His) rs368771578
NM_001126112.2(TP53):c.*1175A>C rs78378222
NM_001126112.2(TP53):c.1009C>T (p.Arg337Cys) rs587782529
NM_001126112.2(TP53):c.100C>A (p.Pro34Thr) rs786201968
NM_001126112.2(TP53):c.1025G>C (p.Arg342Pro) rs375338359
NM_001126112.2(TP53):c.1031T>C (p.Leu344Pro) rs121912662
NM_001126112.2(TP53):c.1040C>A (p.Ala347Asp) rs397516434
NM_001126112.2(TP53):c.1073A>T (p.Glu358Val) rs773553186
NM_001126112.2(TP53):c.1079G>C (p.Gly360Ala) rs35993958
NM_001126112.2(TP53):c.1079G>T (p.Gly360Val) rs35993958
NM_001126112.2(TP53):c.108G>A (p.Pro36=) rs1800370
NM_001126112.2(TP53):c.1093C>T (p.His365Tyr) rs267605075
NM_001126112.2(TP53):c.1096T>G (p.Ser366Ala) rs17881470
NM_001126112.2(TP53):c.1101-1G>A rs876658982
NM_001126112.2(TP53):c.1101-2A>G rs587781664
NM_001126112.2(TP53):c.1120G>C (p.Gly374Arg) rs587781858
NM_001126112.2(TP53):c.123T>C (p.Asp41=) rs369129220
NM_001126112.2(TP53):c.139C>T (p.Pro47Ser) rs1800371
NM_001126112.2(TP53):c.145G>A (p.Asp49Asn) rs587780728
NM_001126112.2(TP53):c.206C>G (p.Ala69Gly) rs756233241
NM_001126112.2(TP53):c.215C>G (p.Pro72Arg) rs1042522
NM_001126112.2(TP53):c.216dup (p.Val73fs) rs730882018
NM_001126112.2(TP53):c.217G>A (p.Val73Met) rs587782423
NM_001126112.2(TP53):c.21T>A (p.Asp7Glu) rs587781277
NM_001126112.2(TP53):c.234A>G (p.Ala78=) rs375099397
NM_001126112.2(TP53):c.245C>T (p.Pro82Leu) rs534447939
NM_001126112.2(TP53):c.256G>A (p.Ala86Thr) rs587782148
NM_001126112.2(TP53):c.285T>G (p.Ser95=) rs876658696
NM_001126112.2(TP53):c.28G>A (p.Val10Ile) rs535274413
NM_001126112.2(TP53):c.313G>C (p.Gly105Arg) rs1060501195
NM_001126112.2(TP53):c.314G>A (p.Gly105Asp) rs587781504
NM_001126112.2(TP53):c.31G>A (p.Glu11Lys) rs201382018
NM_001126112.2(TP53):c.31G>C (p.Glu11Gln) rs201382018
NM_001126112.2(TP53):c.329G>C (p.Arg110Pro) rs11540654
NM_001126112.2(TP53):c.329G>T (p.Arg110Leu) rs11540654
NM_001126112.2(TP53):c.332T>C (p.Leu111Pro) rs1057519997
NM_001126112.2(TP53):c.358A>G (p.Lys120Glu) rs121912658
NM_001126112.2(TP53):c.374C>A (p.Thr125Lys) rs786201057
NM_001126112.2(TP53):c.374C>G (p.Thr125Arg) rs786201057
NM_001126112.2(TP53):c.374C>T (p.Thr125Met) rs786201057
NM_001126112.2(TP53):c.376T>G (p.Tyr126Asp) rs886039483
NM_001126112.2(TP53):c.377A>G (p.Tyr126Cys) rs1555526335
NM_001126112.2(TP53):c.380C>T (p.Ser127Phe) rs730881999
NM_001126112.2(TP53):c.392A>T (p.Asn131Ile) rs1131691037
NM_001126112.2(TP53):c.394A>G (p.Lys132Glu) rs747342068
NM_001126112.2(TP53):c.395A>G (p.Lys132Arg) rs1057519996
NM_001126112.2(TP53):c.395A>T (p.Lys132Met) rs1057519996
NM_001126112.2(TP53):c.396G>C (p.Lys132Asn) rs866775781
NM_001126112.2(TP53):c.396G>T (p.Lys132Asn) rs866775781
NM_001126112.2(TP53):c.403T>A (p.Cys135Ser) rs1057519975
NM_001126112.2(TP53):c.403T>G (p.Cys135Gly) rs1057519975
NM_001126112.2(TP53):c.405C>G (p.Cys135Trp) rs1057519976
NM_001126112.2(TP53):c.412G>C (p.Ala138Pro) rs28934875
NM_001126112.2(TP53):c.422G>A (p.Cys141Tyr) rs587781288
NM_001126112.2(TP53):c.423C>G (p.Cys141Trp) rs1057519977
NM_001126112.2(TP53):c.427G>A (p.Val143Met) rs587782620
NM_001126112.2(TP53):c.431A>T (p.Gln144Leu) rs786203071
NM_001126112.2(TP53):c.448_460del (p.Thr150fs) rs1064792930
NM_001126112.2(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_001126112.2(TP53):c.451C>G (p.Pro151Ala) rs28934874
NM_001126112.2(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_001126112.2(TP53):c.452C>A (p.Pro151His) rs1057520000
NM_001126112.2(TP53):c.452C>G (p.Pro151Arg) rs1057520000
NM_001126112.2(TP53):c.464C>A (p.Thr155Asn) rs786202752
NM_001126112.2(TP53):c.464C>G (p.Thr155Ser) rs786202752
NM_001126112.2(TP53):c.466C>T (p.Arg156Cys) rs563378859
NM_001126112.2(TP53):c.467G>A (p.Arg156His) rs371524413
NM_001126112.2(TP53):c.469G>T (p.Val157Phe) rs121912654
NM_001126112.2(TP53):c.470T>A (p.Val157Asp) rs1131691023
NM_001126112.2(TP53):c.472C>T (p.Arg158Cys) rs587780068
NM_001126112.2(TP53):c.473G>A (p.Arg158His) rs587782144
NM_001126112.2(TP53):c.473G>C (p.Arg158Pro) rs587782144
NM_001126112.2(TP53):c.481G>A (p.Ala161Thr) rs193920817
NM_001126112.2(TP53):c.482C>A (p.Ala161Asp) rs1064795691
NM_001126112.2(TP53):c.487T>A (p.Tyr163Asn) rs786203436
NM_001126112.2(TP53):c.488A>G (p.Tyr163Cys) rs148924904
NM_001126112.2(TP53):c.499C>T (p.Gln167Ter) rs1555526097
NM_001126112.2(TP53):c.503A>G (p.His168Arg) rs867114783
NM_001126112.2(TP53):c.517G>A (p.Val173Met) rs876660754
NM_001126112.2(TP53):c.517G>T (p.Val173Leu) rs876660754
NM_001126112.2(TP53):c.518T>G (p.Val173Gly) rs1057519747
NM_001126112.2(TP53):c.519G>A (p.Val173=) rs1292303980
NM_001126112.2(TP53):c.523C>G (p.Arg175Gly) rs138729528
NM_001126112.2(TP53):c.523C>T (p.Arg175Cys) rs138729528
NM_001126112.2(TP53):c.524G>A (p.Arg175His) rs28934578
NM_001126112.2(TP53):c.524G>T (p.Arg175Leu) rs28934578
NM_001126112.2(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_001126112.2(TP53):c.528C>G (p.Cys176Trp) rs1057519980
NM_001126112.2(TP53):c.530C>G (p.Pro177Arg) rs751477326
NM_001126112.2(TP53):c.535C>A (p.His179Asn) rs587780070
NM_001126112.2(TP53):c.535C>T (p.His179Tyr) rs587780070
NM_001126112.2(TP53):c.536A>G (p.His179Arg) rs1057519991
NM_001126112.2(TP53):c.536A>T (p.His179Leu) rs1057519991
NM_001126112.2(TP53):c.537T>A (p.His179Gln) rs876660821
NM_001126112.2(TP53):c.537T>G (p.His179Gln) rs876660821
NM_001126112.2(TP53):c.541C>T (p.Arg181Cys) rs587782596
NM_001126112.2(TP53):c.542G>A (p.Arg181His) rs397514495
NM_001126112.2(TP53):c.542G>T (p.Arg181Leu) rs397514495
NM_001126112.2(TP53):c.558T>A (p.Asp186Glu) rs375275361
NM_001126112.2(TP53):c.559+9C>G rs1224204682
NM_001126112.2(TP53):c.566C>T (p.Ala189Val) rs121912665
NM_001126112.2(TP53):c.578A>C (p.His193Pro) rs786201838
NM_001126112.2(TP53):c.578A>T (p.His193Leu) rs786201838
NM_001126112.2(TP53):c.581T>C (p.Leu194Pro) rs1057519998
NM_001126112.2(TP53):c.581T>G (p.Leu194Arg) rs1057519998
NM_001126112.2(TP53):c.584T>A (p.Ile195Asn) rs760043106
NM_001126112.2(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_001126112.2(TP53):c.585C>G (p.Ile195Met) rs1057519994
NM_001126112.2(TP53):c.590T>A (p.Val197Glu) rs1567551903
NM_001126112.2(TP53):c.604C>T (p.Arg202Cys) rs587780072
NM_001126112.2(TP53):c.605G>A (p.Arg202His) rs587778719
NM_001126112.2(TP53):c.613T>C (p.Tyr205His) rs1057520008
NM_001126112.2(TP53):c.613T>G (p.Tyr205Asp) rs1057520008
NM_001126112.2(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_001126112.2(TP53):c.639A>G (p.Arg213=) rs1800372
NM_001126112.2(TP53):c.63C>T (p.Asp21=) rs1800369
NM_001126112.2(TP53):c.641A>G (p.His214Arg) rs1057519992
NM_001126112.2(TP53):c.642T>G (p.His214Gln) rs587781386
NM_001126112.2(TP53):c.643A>G (p.Ser215Gly) rs886039484
NM_001126112.2(TP53):c.644G>A (p.Ser215Asn) rs587782177
NM_001126112.2(TP53):c.645T>G (p.Ser215Arg) rs1057520001
NM_001126112.2(TP53):c.646G>A (p.Val216Met) rs730882025
NM_001126112.2(TP53):c.659A>C (p.Tyr220Ser) rs121912666
NM_001126112.2(TP53):c.659A>G (p.Tyr220Cys) rs121912666
NM_001126112.2(TP53):c.664C>T (p.Pro222Ser) rs1060501203
NM_001126112.2(TP53):c.665C>T (p.Pro222Leu) rs146340390
NM_001126112.2(TP53):c.66A>G (p.Leu22=) rs748527030
NM_001126112.2(TP53):c.672G>A (p.Glu224=) rs267605076
NM_001126112.2(TP53):c.673-2A>G rs1555525585
NM_001126112.2(TP53):c.700T>A (p.Tyr234Asn) rs864622237
NM_001126112.2(TP53):c.700T>C (p.Tyr234His) rs864622237
NM_001126112.2(TP53):c.700T>G (p.Tyr234Asp) rs864622237
NM_001126112.2(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_001126112.2(TP53):c.704A>G (p.Asn235Ser) rs144340710
NM_001126112.2(TP53):c.706T>A (p.Tyr236Asn) rs587782289
NM_001126112.2(TP53):c.706T>C (p.Tyr236His) rs587782289
NM_001126112.2(TP53):c.709A>G (p.Met237Val) rs730882004
NM_001126112.2(TP53):c.711G>A (p.Met237Ile) rs587782664
NM_001126112.2(TP53):c.712T>C (p.Cys238Arg) rs1057519981
NM_001126112.2(TP53):c.713G>A (p.Cys238Tyr) rs730882005
NM_001126112.2(TP53):c.713G>T (p.Cys238Phe) rs730882005
NM_001126112.2(TP53):c.714T>G (p.Cys238Trp) rs193920789
NM_001126112.2(TP53):c.715A>G (p.Asn239Asp) rs876660807
NM_001126112.2(TP53):c.716A>C (p.Asn239Thr) rs1057519999
NM_001126112.2(TP53):c.717C>G (p.Asn239Lys) rs1057522275
NM_001126112.2(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_001126112.2(TP53):c.724T>G (p.Cys242Gly) rs1057519982
NM_001126112.2(TP53):c.725G>A (p.Cys242Tyr) rs121912655
NM_001126112.2(TP53):c.725G>T (p.Cys242Phe) rs121912655
NM_001126112.2(TP53):c.728T>C (p.Met243Thr) rs730882006
NM_001126112.2(TP53):c.730G>A (p.Gly244Ser) rs1057519989
NM_001126112.2(TP53):c.730G>T (p.Gly244Cys) rs1057519989
NM_001126112.2(TP53):c.731G>A (p.Gly244Asp) rs985033810
NM_001126112.2(TP53):c.733G>A (p.Gly245Ser) rs28934575
NM_001126112.2(TP53):c.733G>C (p.Gly245Arg) rs28934575
NM_001126112.2(TP53):c.733G>T (p.Gly245Cys) rs28934575
NM_001126112.2(TP53):c.734G>A (p.Gly245Asp) rs121912656
NM_001126112.2(TP53):c.736A>G (p.Met246Val) rs483352695
NM_001126112.2(TP53):c.737T>C (p.Met246Thr) rs587780074
NM_001126112.2(TP53):c.738G>A (p.Met246Ile) rs1019340046
NM_001126112.2(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_001126112.2(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_001126112.2(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_001126112.2(TP53):c.745A>G (p.Arg249Gly) rs587782082
NM_001126112.2(TP53):c.746G>T (p.Arg249Met) rs587782329
NM_001126112.2(TP53):c.747G>T (p.Arg249Ser) rs28934571
NM_001126112.2(TP53):c.749C>T (p.Pro250Leu) rs1064794311
NM_001126112.2(TP53):c.764T>A (p.Ile255Asn) rs876659675
NM_001126112.2(TP53):c.764T>C (p.Ile255Thr) rs876659675
NM_001126112.2(TP53):c.766A>G (p.Thr256Ala) rs587781433
NM_001126112.2(TP53):c.770T>A (p.Leu257Gln) rs28934577
NM_001126112.2(TP53):c.772G>A (p.Glu258Lys) rs121912652
NM_001126112.2(TP53):c.77_80delinsAAGAACGT (p.Leu26fs) rs397516438
NM_001126112.2(TP53):c.782+3C>T rs1555525425
NM_001126112.2(TP53):c.782+6G>A rs1008479744
NM_001126112.2(TP53):c.783-1G>A rs1555525367
NM_001126112.2(TP53):c.787A>G (p.Asn263Asp) rs72661119
NM_001126112.2(TP53):c.794T>C (p.Leu265Pro) rs879253942
NM_001126112.2(TP53):c.796G>A (p.Gly266Arg) rs1057519990
NM_001126112.2(TP53):c.796G>C (p.Gly266Arg) rs1057519990
NM_001126112.2(TP53):c.797G>A (p.Gly266Glu) rs193920774
NM_001126112.2(TP53):c.800G>C (p.Arg267Pro) rs587780075
NM_001126112.2(TP53):c.809T>C (p.Phe270Ser) rs1057519986
NM_001126112.2(TP53):c.814G>A (p.Val272Met) rs121912657
NM_001126112.2(TP53):c.817C>A (p.Arg273Ser) rs121913343
NM_001126112.2(TP53):c.817C>G (p.Arg273Gly) rs121913343
NM_001126112.2(TP53):c.817C>T (p.Arg273Cys) rs121913343
NM_001126112.2(TP53):c.818G>A (p.Arg273His) rs28934576
NM_001126112.2(TP53):c.818G>C (p.Arg273Pro) rs28934576
NM_001126112.2(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_001126112.2(TP53):c.820G>C (p.Val274Leu) rs1057520005
NM_001126112.2(TP53):c.821T>G (p.Val274Gly) rs1057520006
NM_001126112.2(TP53):c.824G>A (p.Cys275Tyr) rs863224451
NM_001126112.2(TP53):c.826G>C (p.Ala276Pro) rs1131691029
NM_001126112.2(TP53):c.829T>C (p.Cys277Arg) rs1064795369
NM_001126112.2(TP53):c.830G>A (p.Cys277Tyr) rs763098116
NM_001126112.2(TP53):c.831T>A (p.Cys277Ter) rs1057523347
NM_001126112.2(TP53):c.832C>G (p.Pro278Ala) rs17849781
NM_001126112.2(TP53):c.832C>T (p.Pro278Ser) rs17849781
NM_001126112.2(TP53):c.833C>A (p.Pro278His) rs876659802
NM_001126112.2(TP53):c.833C>G (p.Pro278Arg) rs876659802
NM_001126112.2(TP53):c.838A>G (p.Arg280Gly) rs753660142
NM_001126112.2(TP53):c.839G>A (p.Arg280Lys) rs121912660
NM_001126112.2(TP53):c.839G>C (p.Arg280Thr) rs121912660
NM_001126112.2(TP53):c.839G>T (p.Arg280Ile) rs121912660
NM_001126112.2(TP53):c.841G>A (p.Asp281Asn) rs764146326
NM_001126112.2(TP53):c.841G>T (p.Asp281Tyr) rs764146326
NM_001126112.2(TP53):c.842A>G (p.Asp281Gly) rs587781525
NM_001126112.2(TP53):c.842A>T (p.Asp281Val) rs587781525
NM_001126112.2(TP53):c.843C>A (p.Asp281Glu) rs1057519984
NM_001126112.2(TP53):c.843C>G (p.Asp281Glu) rs1057519984
NM_001126112.2(TP53):c.844C>T (p.Arg282Trp) rs28934574
NM_001126112.2(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_001126112.2(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_001126112.2(TP53):c.847C>T (p.Arg283Cys) rs149633775
NM_001126112.2(TP53):c.848G>A (p.Arg283His) rs371409680
NM_001126112.2(TP53):c.853G>A (p.Glu285Lys) rs112431538
NM_001126112.2(TP53):c.856G>A (p.Glu286Lys) rs786201059
NM_001126112.2(TP53):c.857A>G (p.Glu286Gly) rs1057519985
NM_001126112.2(TP53):c.869G>A (p.Arg290His) rs55819519
NM_001126112.2(TP53):c.883C>T (p.Pro295Ser) rs1131691006
NM_001126112.2(TP53):c.892G>A (p.Glu298Lys) rs201744589
NM_001126112.2(TP53):c.916C>T (p.Arg306Ter) rs121913344
NM_001126112.2(TP53):c.917G>A (p.Arg306Gln) rs1048095040
NM_001126112.2(TP53):c.919+1G>A rs1131691039
NM_001126112.2(TP53):c.919+2T>G rs1131691016
NM_001126112.2(TP53):c.91G>A (p.Val31Ile) rs201753350
NM_001126112.2(TP53):c.920-2A>G rs397516439
NM_001126112.2(TP53):c.931A>C (p.Asn311His) rs1555525007
NM_001126112.2(TP53):c.935C>G (p.Thr312Ser) rs145151284
NM_001126112.2(TP53):c.949C>T (p.Gln317Ter) rs764735889
NM_001126112.2(TP53):c.97-6C>T rs35117667
NM_001126112.2(TP53):c.974G>T (p.Gly325Val) rs121912659
NM_001126112.2(TP53):c.993+12T>C rs1800899
NM_001126112.2(TP53):c.993+1G>A rs11575997
NM_001126112.2(TP53):c.993+7A>G rs1023206153
NM_001143992.2(WRAP53):c.31C>T (p.Pro11Ser) rs17880282
NM_001143992.2(WRAP53):c.407C>G (p.Pro136Arg) rs34067256
NM_001143992.2(WRAP53):c.450C>T (p.Phe150=) rs2287498
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007

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