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
248 218 5 87 61 5 100 233

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 44 5 1 0 2 0
likely pathogenic 18 1 6 0 0 0 0
uncertain significance 15 88 3 37 9 0 1
likely benign 1 4 29 0 24 0 1
benign 0 0 3 7 1 1 0

Condition to condition summary #

Total conditions: 69
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 0 252 0 39 41 0 40 114
Lung adenocarcinoma 0 16 0 24 0 0 53 76
Neoplasm of the breast 0 21 0 22 0 0 54 75
Ovarian Serous Cystadenocarcinoma 0 16 0 23 0 0 51 73
Squamous cell carcinoma of the head and neck 0 17 0 24 0 0 48 71
Adenocarcinoma of stomach 0 11 0 23 0 0 46 68
Hepatocellular carcinoma 0 13 0 25 0 0 44 68
Carcinoma of esophagus 0 16 0 21 0 0 47 67
Pancreatic adenocarcinoma 0 17 0 21 0 0 47 67
Neoplasm of brain 0 16 0 22 0 0 43 64
Neoplasm of the large intestine 0 17 0 23 0 0 42 64
Squamous cell lung carcinoma 0 13 0 20 0 0 45 64
not provided 0 130 3 19 18 0 23 62
Ovarian Neoplasms 0 26 0 26 0 0 34 58
Uterine Carcinosarcoma 0 12 0 20 0 0 29 49
Glioblastoma 0 14 0 19 0 0 30 48
Transitional cell carcinoma of the bladder 0 15 0 17 0 0 30 46
not specified 0 62 0 21 21 0 2 44
Malignant neoplasm of body of uterus 0 12 0 17 0 0 24 40
Malignant melanoma of skin 0 10 0 16 0 0 24 39
Small cell lung cancer 0 7 0 13 0 0 21 34
Adenocarcinoma of prostate 0 8 0 12 0 0 18 29
Li-Fraumeni syndrome 1 0 59 0 12 14 0 3 28
Acute myeloid leukemia 0 6 0 9 0 0 18 27
Squamous cell carcinoma of the skin 0 7 0 7 0 0 21 27
Multiple myeloma 0 9 0 8 0 0 15 23
Chronic lymphocytic leukemia 0 7 0 9 0 0 11 20
Brainstem glioma 0 8 0 11 0 0 8 19
Li-Fraumeni syndrome 660 20 0 6 9 0 4 19
Renal cell carcinoma, papillary, 1 0 7 0 5 0 0 13 17
Adrenocortical carcinoma 0 5 0 5 0 0 8 13
Uterine cervical neoplasms 0 2 0 1 0 0 9 10
Medulloblastoma 0 3 0 5 0 0 4 9
Nasopharyngeal Neoplasms 0 0 0 2 0 0 5 7
Carcinoma of gallbladder 0 2 0 2 0 0 4 6
Neoplasm 0 0 0 6 0 0 0 6
Adenoid cystic carcinoma 0 1 0 2 0 0 3 5
Malignant tumor of prostate 0 0 2 0 0 0 3 5
Non-Hodgkin lymphoma 0 4 0 1 0 0 4 4
Papillary renal cell carcinoma, sporadic 0 3 0 2 0 0 1 3
Astrocytoma 0 0 0 0 0 0 2 2
Familial cancer of breast 0 3 0 1 1 0 0 2
Familial colorectal cancer 0 0 0 0 0 0 2 2
Li-Fraumeni-like syndrome 0 3 0 0 0 0 2 2
Myelodysplastic syndrome 0 2 0 2 0 0 0 2
Neuroblastoma 0 0 0 1 0 0 1 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
Carcinoma of cervix 0 0 0 0 0 0 1 1
Dyskeratosis Congenita, Recessive 0 4 0 1 0 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 0 0 1 0 0 0 1
Nasopharyngeal carcinoma 0 0 0 0 0 0 1 1
Neoplasm of ovary 0 1 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
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: 233
Download table as spreadsheet
HGVS dbSNP
NM_000546.5(TP53):c.*1175A>C rs78378222
NM_000546.5(TP53):c.1009C>T (p.Arg337Cys) rs587782529
NM_000546.5(TP53):c.100C>A (p.Pro34Thr) rs786201968
NM_000546.5(TP53):c.1014C>T (p.Phe338=) rs150293825
NM_000546.5(TP53):c.1015G>A (p.Glu339Lys) rs17882252
NM_000546.5(TP53):c.1025G>C (p.Arg342Pro) rs375338359
NM_000546.5(TP53):c.102C>G (p.Pro34=) rs11575998
NM_000546.5(TP53):c.1040C>A (p.Ala347Asp) rs397516434
NM_000546.5(TP53):c.1073A>T (p.Glu358Val) rs773553186
NM_000546.5(TP53):c.1079G>C (p.Gly360Ala) rs35993958
NM_000546.5(TP53):c.1079G>T (p.Gly360Val) rs35993958
NM_000546.5(TP53):c.108G>A (p.Pro36=) rs1800370
NM_000546.5(TP53):c.1096T>G (p.Ser366Ala) rs17881470
NM_000546.5(TP53):c.1101-1G>A rs876658982
NM_000546.5(TP53):c.1101-2A>G rs587781664
NM_000546.5(TP53):c.1120G>C (p.Gly374Arg) rs587781858
NM_000546.5(TP53):c.123T>C (p.Asp41=) rs369129220
NM_000546.5(TP53):c.12G>A (p.Pro4=) rs876658274
NM_000546.5(TP53):c.139C>T (p.Pro47Ser) rs1800371
NM_000546.5(TP53):c.141G>A (p.Pro47=) rs201741778
NM_000546.5(TP53):c.145G>A (p.Asp49Asn) rs587780728
NM_000546.5(TP53):c.173C>G (p.Pro58Arg) rs144386518
NM_000546.5(TP53):c.18A>C (p.Ser6=) rs573130482
NM_000546.5(TP53):c.18A>G (p.Ser6=) rs573130482
NM_000546.5(TP53):c.215C>G (p.Pro72Arg) rs1042522
NM_000546.5(TP53):c.216C>T (p.Pro72=) rs56275308
NM_000546.5(TP53):c.217G>A (p.Val73Met) rs587782423
NM_000546.5(TP53):c.234A>G (p.Ala78=) rs375099397
NM_000546.5(TP53):c.245C>T (p.Pro82Leu) rs534447939
NM_000546.5(TP53):c.246G>A (p.Pro82=) rs372397095
NM_000546.5(TP53):c.248C>T (p.Ala83Val) rs201717599
NM_000546.5(TP53):c.249G>A (p.Ala83=) rs55754907
NM_000546.5(TP53):c.256G>A (p.Ala86Thr) rs587782148
NM_000546.5(TP53):c.270C>T (p.Ser90=) rs863224370
NM_000546.5(TP53):c.285T>G (p.Ser95=) rs876658696
NM_000546.5(TP53):c.28G>A (p.Val10Ile) rs535274413
NM_000546.5(TP53):c.30C>T (p.Val10=) rs568171603
NM_000546.5(TP53):c.313G>C (p.Gly105Arg) rs1060501195
NM_000546.5(TP53):c.314G>A (p.Gly105Asp) rs587781504
NM_000546.5(TP53):c.319T>C (p.Tyr107His) rs368771578
NM_000546.5(TP53):c.31G>A (p.Glu11Lys) rs201382018
NM_000546.5(TP53):c.31G>C (p.Glu11Gln) rs201382018
NM_000546.5(TP53):c.329G>C (p.Arg110Pro) rs11540654
NM_000546.5(TP53):c.329G>T (p.Arg110Leu) rs11540654
NM_000546.5(TP53):c.332T>C (p.Leu111Pro) rs1057519997
NM_000546.5(TP53):c.354A>T (p.Thr118=) rs751978853
NM_000546.5(TP53):c.358A>G (p.Lys120Glu) rs121912658
NM_000546.5(TP53):c.374C>A (p.Thr125Lys) rs786201057
NM_000546.5(TP53):c.374C>G (p.Thr125Arg) rs786201057
NM_000546.5(TP53):c.374C>T (p.Thr125Met) rs786201057
NM_000546.5(TP53):c.376T>G (p.Tyr126Asp) rs886039483
NM_000546.5(TP53):c.377A>G (p.Tyr126Cys) rs1555526335
NM_000546.5(TP53):c.380C>T (p.Ser127Phe) rs730881999
NM_000546.5(TP53):c.394A>G (p.Lys132Glu) rs747342068
NM_000546.5(TP53):c.395A>G (p.Lys132Arg) rs1057519996
NM_000546.5(TP53):c.395A>T (p.Lys132Met) rs1057519996
NM_000546.5(TP53):c.405C>G (p.Cys135Trp) rs1057519976
NM_000546.5(TP53):c.412G>C (p.Ala138Pro) rs28934875
NM_000546.5(TP53):c.422G>A (p.Cys141Tyr) rs587781288
NM_000546.5(TP53):c.423C>G (p.Cys141Trp) rs1057519977
NM_000546.5(TP53):c.427G>A (p.Val143Met) rs587782620
NM_000546.5(TP53):c.448_460delACACCCCCGCCCG (p.Thr150Alafs) rs1064792930
NM_000546.5(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_000546.5(TP53):c.451C>G (p.Pro151Ala) rs28934874
NM_000546.5(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_000546.5(TP53):c.452C>A (p.Pro151His) rs1057520000
NM_000546.5(TP53):c.452C>G (p.Pro151Arg) rs1057520000
NM_000546.5(TP53):c.459C>T (p.Pro153=) rs72661116
NM_000546.5(TP53):c.464C>A (p.Thr155Asn) rs786202752
NM_000546.5(TP53):c.466C>T (p.Arg156Cys) rs563378859
NM_000546.5(TP53):c.467G>A (p.Arg156His) rs371524413
NM_000546.5(TP53):c.472C>T (p.Arg158Cys) rs587780068
NM_000546.5(TP53):c.473G>A (p.Arg158His) rs587782144
NM_000546.5(TP53):c.473G>C (p.Arg158Pro) rs587782144
NM_000546.5(TP53):c.474C>T (p.Arg158=) rs139200646
NM_000546.5(TP53):c.482C>A (p.Ala161Asp) rs1064795691
NM_000546.5(TP53):c.487T>A (p.Tyr163Asn) rs786203436
NM_000546.5(TP53):c.488A>G (p.Tyr163Cys) rs148924904
NM_000546.5(TP53):c.499C>T (p.Gln167Ter) rs1555526097
NM_000546.5(TP53):c.503A>G (p.His168Arg) rs867114783
NM_000546.5(TP53):c.510G>A (p.Thr170=) rs757544615
NM_000546.5(TP53):c.517G>A (p.Val173Met) rs876660754
NM_000546.5(TP53):c.517G>T (p.Val173Leu) rs876660754
NM_000546.5(TP53):c.523C>G (p.Arg175Gly) rs138729528
NM_000546.5(TP53):c.523C>T (p.Arg175Cys) rs138729528
NM_000546.5(TP53):c.524G>A (p.Arg175His) rs28934578
NM_000546.5(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_000546.5(TP53):c.528C>G (p.Cys176Trp) rs1057519980
NM_000546.5(TP53):c.530C>G (p.Pro177Arg) rs751477326
NM_000546.5(TP53):c.535C>A (p.His179Asn) rs587780070
NM_000546.5(TP53):c.535C>T (p.His179Tyr) rs587780070
NM_000546.5(TP53):c.536A>G (p.His179Arg) rs1057519991
NM_000546.5(TP53):c.536A>T (p.His179Leu) rs1057519991
NM_000546.5(TP53):c.537T>A (p.His179Gln) rs876660821
NM_000546.5(TP53):c.541C>T (p.Arg181Cys) rs587782596
NM_000546.5(TP53):c.542G>A (p.Arg181His) rs397514495
NM_000546.5(TP53):c.542G>T (p.Arg181Leu) rs397514495
NM_000546.5(TP53):c.558T>A (p.Asp186Glu) rs375275361
NM_000546.5(TP53):c.559+8G>A rs775915220
NM_000546.5(TP53):c.559+9C>G rs1224204682
NM_000546.5(TP53):c.560-8G>C rs373797299
NM_000546.5(TP53):c.566C>T (p.Ala189Val) rs121912665
NM_000546.5(TP53):c.578A>T (p.His193Leu) rs786201838
NM_000546.5(TP53):c.581T>C (p.Leu194Pro) rs1057519998
NM_000546.5(TP53):c.581T>G (p.Leu194Arg) rs1057519998
NM_000546.5(TP53):c.582T>C (p.Leu194=) rs370216745
NM_000546.5(TP53):c.584T>A (p.Ile195Asn) rs760043106
NM_000546.5(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_000546.5(TP53):c.585C>G (p.Ile195Met) rs1057519994
NM_000546.5(TP53):c.604C>T (p.Arg202Cys) rs587780072
NM_000546.5(TP53):c.605G>A (p.Arg202His) rs587778719
NM_000546.5(TP53):c.613T>G (p.Tyr205Asp) rs1057520008
NM_000546.5(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.5(TP53):c.639A>G (p.Arg213=) rs1800372
NM_000546.5(TP53):c.63C>T (p.Asp21=) rs1800369
NM_000546.5(TP53):c.641A>G (p.His214Arg) rs1057519992
NM_000546.5(TP53):c.642T>G (p.His214Gln) rs587781386
NM_000546.5(TP53):c.643A>G (p.Ser215Gly) rs886039484
NM_000546.5(TP53):c.645T>G (p.Ser215Arg) rs1057520001
NM_000546.5(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.5(TP53):c.659A>C (p.Tyr220Ser) rs121912666
NM_000546.5(TP53):c.659A>G (p.Tyr220Cys) rs121912666
NM_000546.5(TP53):c.663G>A (p.Glu221=) rs1060504161
NM_000546.5(TP53):c.664C>T (p.Pro222Ser) rs1060501203
NM_000546.5(TP53):c.665C>T (p.Pro222Leu) rs146340390
NM_000546.5(TP53):c.666G>T (p.Pro222=) rs72661118
NM_000546.5(TP53):c.66A>G (p.Leu22=) rs748527030
NM_000546.5(TP53):c.673-2A>G rs1555525585
NM_000546.5(TP53):c.673-9delA rs762540407
NM_000546.5(TP53):c.6G>A (p.Glu2=) rs143458271
NM_000546.5(TP53):c.700T>C (p.Tyr234His) rs864622237
NM_000546.5(TP53):c.700T>G (p.Tyr234Asp) rs864622237
NM_000546.5(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_000546.5(TP53):c.704A>G (p.Asn235Ser) rs144340710
NM_000546.5(TP53):c.706T>A (p.Tyr236Asn) rs587782289
NM_000546.5(TP53):c.706T>C (p.Tyr236His) rs587782289
NM_000546.5(TP53):c.709A>G (p.Met237Val) rs730882004
NM_000546.5(TP53):c.711G>A (p.Met237Ile) rs587782664
NM_000546.5(TP53):c.713G>A (p.Cys238Tyr) rs730882005
NM_000546.5(TP53):c.713G>T (p.Cys238Phe) rs730882005
NM_000546.5(TP53):c.715A>G (p.Asn239Asp) rs876660807
NM_000546.5(TP53):c.716A>C (p.Asn239Thr) rs1057519999
NM_000546.5(TP53):c.717C>G (p.Asn239Lys) rs1057522275
NM_000546.5(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.5(TP53):c.724T>G (p.Cys242Gly) rs1057519982
NM_000546.5(TP53):c.725G>A (p.Cys242Tyr) rs121912655
NM_000546.5(TP53):c.725G>T (p.Cys242Phe) rs121912655
NM_000546.5(TP53):c.728T>C (p.Met243Thr) rs730882006
NM_000546.5(TP53):c.730G>A (p.Gly244Ser) rs1057519989
NM_000546.5(TP53):c.730G>T (p.Gly244Cys) rs1057519989
NM_000546.5(TP53):c.731G>A (p.Gly244Asp) rs985033810
NM_000546.5(TP53):c.733G>A (p.Gly245Ser) rs28934575
NM_000546.5(TP53):c.733G>C (p.Gly245Arg) rs28934575
NM_000546.5(TP53):c.733G>T (p.Gly245Cys) rs28934575
NM_000546.5(TP53):c.734G>A (p.Gly245Asp) rs121912656
NM_000546.5(TP53):c.736A>G (p.Met246Val) rs483352695
NM_000546.5(TP53):c.737T>C (p.Met246Thr) rs587780074
NM_000546.5(TP53):c.738G>A (p.Met246Ile) rs1019340046
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.745A>G (p.Arg249Gly) rs587782082
NM_000546.5(TP53):c.746G>T (p.Arg249Met) rs587782329
NM_000546.5(TP53):c.747G>T (p.Arg249Ser) rs28934571
NM_000546.5(TP53):c.749C>T (p.Pro250Leu) rs1064794311
NM_000546.5(TP53):c.764T>A (p.Ile255Asn) rs876659675
NM_000546.5(TP53):c.764T>C (p.Ile255Thr) rs876659675
NM_000546.5(TP53):c.766A>G (p.Thr256Ala) rs587781433
NM_000546.5(TP53):c.770T>A (p.Leu257Gln) rs28934577
NM_000546.5(TP53):c.77_80delTTCCinsAAGAACGT (p.Leu26Glnfs) rs397516438
NM_000546.5(TP53):c.782+6G>A rs1008479744
NM_000546.5(TP53):c.783-1G>A rs1555525367
NM_000546.5(TP53):c.787A>G (p.Asn263Asp) rs72661119
NM_000546.5(TP53):c.794T>C (p.Leu265Pro) rs879253942
NM_000546.5(TP53):c.796G>A (p.Gly266Arg) rs1057519990
NM_000546.5(TP53):c.800G>C (p.Arg267Pro) rs587780075
NM_000546.5(TP53):c.814G>A (p.Val272Met) rs121912657
NM_000546.5(TP53):c.817C>A (p.Arg273Ser) rs121913343
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.818G>C (p.Arg273Pro) rs28934576
NM_000546.5(TP53):c.820G>C (p.Val274Leu) rs1057520005
NM_000546.5(TP53):c.821T>G (p.Val274Gly) rs1057520006
NM_000546.5(TP53):c.824G>A (p.Cys275Tyr) rs863224451
NM_000546.5(TP53):c.826G>C (p.Ala276Pro) rs1131691029
NM_000546.5(TP53):c.830G>A (p.Cys277Tyr) rs763098116
NM_000546.5(TP53):c.832C>G (p.Pro278Ala) rs17849781
NM_000546.5(TP53):c.832C>T (p.Pro278Ser) rs17849781
NM_000546.5(TP53):c.833C>A (p.Pro278His) rs876659802
NM_000546.5(TP53):c.838A>G (p.Arg280Gly) rs753660142
NM_000546.5(TP53):c.839G>A (p.Arg280Lys) rs121912660
NM_000546.5(TP53):c.839G>C (p.Arg280Thr) rs121912660
NM_000546.5(TP53):c.842A>G (p.Asp281Gly) rs587781525
NM_000546.5(TP53):c.843C>A (p.Asp281Glu) rs1057519984
NM_000546.5(TP53):c.843C>G (p.Asp281Glu) rs1057519984
NM_000546.5(TP53):c.844C>T (p.Arg282Trp) rs28934574
NM_000546.5(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000546.5(TP53):c.847C>T (p.Arg283Cys) rs149633775
NM_000546.5(TP53):c.848G>A (p.Arg283His) rs371409680
NM_000546.5(TP53):c.853G>A (p.Glu285Lys) rs112431538
NM_000546.5(TP53):c.856G>A (p.Glu286Lys) rs786201059
NM_000546.5(TP53):c.857A>G (p.Glu286Gly) rs1057519985
NM_000546.5(TP53):c.867C>T (p.Leu289=) rs778138282
NM_000546.5(TP53):c.869G>A (p.Arg290His) rs55819519
NM_000546.5(TP53):c.885T>C (p.Pro295=) rs200073907
NM_000546.5(TP53):c.891C>T (p.His297=) rs750578863
NM_000546.5(TP53):c.892G>A (p.Glu298Lys) rs201744589
NM_000546.5(TP53):c.903A>G (p.Pro301=) rs72661120
NM_000546.5(TP53):c.916C>T (p.Arg306Ter) rs121913344
NM_000546.5(TP53):c.917G>A (p.Arg306Gln) rs1048095040
NM_000546.5(TP53):c.91G>A (p.Val31Ile) rs201753350
NM_000546.5(TP53):c.920-2A>G rs397516439
NM_000546.5(TP53):c.920-5C>T rs34361146
NM_000546.5(TP53):c.924G>C (p.Leu308=) rs786202546
NM_000546.5(TP53):c.931A>C (p.Asn311His) rs1555525007
NM_000546.5(TP53):c.935C>G (p.Thr312Ser) rs145151284
NM_000546.5(TP53):c.949C>T (p.Gln317Ter) rs764735889
NM_000546.5(TP53):c.97-4A>T rs746791390
NM_000546.5(TP53):c.97-6C>T rs35117667
NM_000546.5(TP53):c.97-9C>T rs202217267
NM_000546.5(TP53):c.974G>T (p.Gly325Val) rs121912659
NM_000546.5(TP53):c.993+12T>C rs1800899
NM_000546.5(TP53):c.993+1G>A rs11575997
NM_000546.5(TP53):c.993+7A>G rs1023206153
NM_000546.5(TP53):c.994-5T>C rs375273756
NM_001126115.1(TP53):c.318T>G (p.Cys106Trp) rs193920789
NM_001126115.1(TP53):c.401G>A (p.Gly134Glu) rs193920774
NM_001126115.1(TP53):c.443G>T (p.Arg148Ile) rs121912660
NM_001126115.1(TP53):c.85G>A (p.Ala29Thr) rs193920817
NM_007194.3(CHEK2):c.1100delC (p.Thr367Metfs) rs555607708
NM_007194.3(CHEK2):c.1434delA (p.Glu479Lysfs) rs786202601
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007
NM_018081.2(WRAP53):c.31C>T (p.Pro11Ser) rs17880282
NM_018081.2(WRAP53):c.450C>T (p.Phe150=) rs2287498

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