ClinVar Miner

Variants from Database of Curated Mutations (DoCM)

Location: United States  Primary collection method: literature only
Minimum submission review status: Collection method:
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If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
230 1114 0 0 0 61 1253

Gene and significance breakdown #

Total genes and gene combinations: 128
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Gene or gene combination pathogenic likely pathogenic not provided total
TP53 0 206 3 206
BRAF 24 53 1 65
PIK3CA 14 59 1 62
KIT 36 35 2 54
EGFR 6 44 4 48
CTNNB1, LOC126806658 5 40 0 40
FLT3 9 26 0 35
FGFR2 0 33 0 33
ALK 13 16 7 28
KRAS 23 15 4 28
MAP2K1 10 24 0 28
ABL1 0 26 1 27
HRAS, LRRC56 5 23 1 24
NRAS 20 19 1 24
STK11 0 24 0 24
ERBB2 7 20 1 23
CDKN2A 0 19 0 19
RET 1 18 0 18
SF3B1 0 18 1 18
PDGFRA 4 12 1 17
MTOR 0 14 2 16
FBXW7 0 15 0 15
MET 0 15 0 15
SMAD4 8 9 0 15
SPOP 0 15 0 15
APC 0 13 0 13
PTEN 6 10 1 13
FGFR3 0 12 0 12
PIK3R1 0 11 0 11
RAF1 0 11 0 11
RB1 0 10 0 10
CSF1R 0 9 0 9
ERBB3 0 8 0 8
IDH2 6 7 1 8
JAK3 0 8 0 8
MYC 0 8 0 8
NFE2L2 0 8 0 8
RHOA 0 8 0 8
DDR2 1 6 6 7
EZH2 0 7 0 7
FGFR1 0 7 0 7
INSL6, JAK2 4 4 1 7
MAP2K2 0 7 0 7
PTPN11 0 7 0 7
DNMT3A 6 3 0 6
ERBB4 0 6 0 6
IDH1 6 5 1 6
B2M 0 5 0 5
ESR1 4 1 0 5
PPP2R1A 0 5 0 5
RUNX1 0 5 0 5
ACVR1 0 4 0 4
CDK4 0 4 0 4
CNOT9 0 4 0 4
CREBBP 0 4 0 4
FGFR4 0 4 0 4
GNAQ 3 3 0 4
GNAS 0 4 0 4
NPM1 0 4 0 4
POLE 0 4 0 4
U2AF1 0 4 1 4
ARAF 0 3 1 3
BTK 0 3 1 3
ELOC 0 3 0 3
EPHA2 0 3 0 3
HERC2 3 0 0 3
JAK1, LOC126805749 0 3 0 3
LOC107303340, VHL 0 3 0 3
LOC130062899, STK11 0 3 0 3
MPL 0 3 0 3
PLCG2 0 3 0 3
RAC1 0 3 1 3
VHL 0 3 0 3
XPO1 0 3 0 3
ABCB1 0 0 2 2
AKT1 1 2 0 2
AKT2 0 2 0 2
CBL 0 2 0 2
CHEK2 0 2 0 2
CSF3R 0 2 0 2
EP300 0 2 0 2
GATA2 0 2 0 2
GNA11 2 2 0 2
H3-3A 0 2 0 2
H3C11 0 2 0 2
MED12 0 2 0 2
NOTCH1 0 0 2 2
RHEB 0 2 0 2
RXRA 0 2 0 2
SF3B2 0 2 0 2
ABCG2 0 0 1 1
AR 0 0 1 1
ATM, C11orf65 0 0 1 1
ATR 0 0 1 1
BCL2L12, LOC130064935 0 1 0 1
CRLF2 1 0 0 1
CRNKL1, LOC130065490 0 1 0 1
EPHA5 0 1 0 1
EPHB2 0 1 0 1
ERCC2 0 0 1 1
FOXL2 0 0 1 1
GSTP1 0 0 1 1
IL7R 0 1 0 1
KNSTRN 0 1 0 1
MAP2K1, SNAPC5 1 0 0 1
MAPK1 0 1 0 1
MGMT 0 0 1 1
MLH1 0 1 0 1
MTHFR 0 0 1 1
MYCN, MYCNOS 0 1 0 1
MYD88 0 1 0 1
NEK8 0 1 0 1
NQO1 0 0 1 1
NT5C2 0 0 1 1
PIK3R2 0 1 0 1
PPP6C 0 1 0 1
ROCK1 0 1 0 1
ROS1 0 1 0 1
SETBP1 0 0 1 1
SMO 1 0 0 1
SOS1 0 1 0 1
SRC 0 1 0 1
STK19 0 1 0 1
STK33 0 1 0 1
TEK 0 1 0 1
TTK 0 1 0 1
WT1 0 1 0 1
XRCC1 0 0 1 1

Condition and significance breakdown #

Total conditions: 103
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Condition pathogenic likely pathogenic not provided total
Neoplasm of the large intestine 62 352 5 419
Lung adenocarcinoma 0 385 1 386
Gastric adenocarcinoma 0 360 0 360
Breast neoplasm 32 321 4 357
Squamous cell carcinoma of the head and neck 0 330 0 330
Malignant neoplasm of body of uterus 0 287 0 287
Malignant melanoma of skin 0 279 0 279
Transitional cell carcinoma of the bladder 0 276 0 276
Squamous cell lung carcinoma 0 270 0 270
Hepatocellular carcinoma 0 253 0 253
Pancreatic adenocarcinoma 0 242 0 242
Neoplasm of brain 0 236 0 236
Carcinoma of esophagus 0 227 0 227
Ovarian serous cystadenocarcinoma 0 225 0 225
Glioblastoma 0 221 2 223
Acute myeloid leukemia 30 162 0 192
Prostate adenocarcinoma 0 186 0 186
Uterine carcinosarcoma 0 174 0 174
Melanoma 82 81 3 166
Multiple myeloma 0 139 0 139
Neoplasm of uterine cervix 0 132 0 132
Neoplasm 0 116 0 116
Squamous cell carcinoma of the skin 0 107 0 107
B-cell chronic lymphocytic leukemia 0 103 1 104
Papillary renal cell carcinoma type 1 0 104 0 104
Small cell lung carcinoma 0 98 0 98
Non-small cell lung carcinoma 40 24 23 87
Brainstem glioma 0 80 0 80
Medulloblastoma 1 78 0 79
Adrenal cortex carcinoma 0 65 0 65
Papillary renal cell carcinoma, sporadic 0 52 0 52
Neuroblastoma 12 32 1 45
Non-Hodgkin lymphoma 0 44 0 44
Gastrointestinal stromal tumor 5 37 1 43
Thyroid tumor 19 22 0 41
Adenoid cystic carcinoma 0 39 0 39
Chronic myelogenous leukemia, BCR-ABL1 positive 0 30 4 34
Myelodysplastic syndrome 0 31 3 34
Nasopharyngeal neoplasm 0 27 0 27
Neoplasm of ovary 17 5 2 24
Gallbladder carcinoma 0 22 0 22
Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation 0 18 0 18
Medullary thyroid carcinoma 0 18 0 18
Carcinoma 0 17 0 17
Lymphoblastic leukemia, acute, with lymphomatous features 5 10 1 16
Endometrium neoplasm 0 13 1 14
Lung carcinoma 6 6 2 14
Multiple endocrine neoplasia type 4 0 14 0 14
Multiple endocrine neoplasia, type 1 0 14 0 14
Multiple endocrine neoplasia, type 2a 0 14 0 14
Multiple endocrine neoplasia, type 2b 0 14 0 14
Hematologic neoplasm 0 13 0 13
Astrocytoma 0 12 0 12
Peutz-Jeghers syndrome 0 10 0 10
Thymoma 9 1 0 10
Renal carcinoma 0 9 0 9
Noonan syndrome 0 8 0 8
Acute megakaryoblastic leukemia 0 7 0 7
Myeloproliferative disorder 0 7 0 7
Urinary bladder carcinoma 0 7 0 7
Head and neck neoplasm 0 6 0 6
Lymphoma 0 6 0 6
Neoplasm of stomach 0 5 1 6
Retinoblastoma 0 6 0 6
Neoplasm of the pancreas 0 5 0 5
Uveal melanoma 0 5 0 5
Craniopharyngioma 0 4 0 4
Disease 0 4 0 4
Myeloproliferative neoplasm 0 4 0 4
Prostate neoplasm 0 2 2 4
Rhabdomyosarcoma 1 3 0 4
Colonic neoplasm 0 3 0 3
Craniosynostosis syndrome 0 3 0 3
Leukemoid reaction 0 3 0 3
Malignant tumor of floor of mouth 0 3 0 3
Squamous cell carcinoma 1 2 0 3
Acanthosis nigricans 0 2 0 2
Acquired polycythemia vera 0 1 1 2
Angiosarcoma 0 2 0 2
Bone osteosarcoma 0 1 1 2
Esophageal squamous cell carcinoma 0 2 0 2
Pilomatrixoma 0 2 0 2
Primary myelofibrosis 0 2 0 2
Tumor of parathyroid gland 0 2 0 2
Acrocephalosyndactyly 0 1 0 1
Agammaglobulinemia 0 1 0 1
Basal cell carcinoma 1 0 0 1
Benign Soft Tissue Neoplasm of Uncertain Differentiation 0 0 1 1
Carcinoma of pancreas 0 0 1 1
Cortical senile cataract 0 1 0 1
Crouzon syndrome 0 1 0 1
Granulosa cell tumor 0 0 1 1
Leukemia, acute, X-linked 0 1 0 1
Mast cell leukemia 0 1 0 1
Oligodendroglioma 0 0 1 1
Ovarian adenocarcinoma 0 1 0 1
Papillary thyroid carcinoma 0 0 1 1
Severe combined immunodeficiency disease 0 1 0 1
Subacute lymphoid leukemia 0 0 1 1
Systemic mast cell disease 0 1 0 1
Thrombocythemia 1 0 1 0 1
Trabecular adenocarcinoma 0 0 1 1
Tumor of meninges 0 1 0 1

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