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 63 1255

Gene and significance breakdown #

Total genes and gene combinations: 127
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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 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
STK11 0 27 0 27
HRAS, LRRC56 5 23 1 24
NRAS 20 19 1 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 0 3 0 3
LOC107303340, VHL 0 3 0 3
MPL 0 3 0 3
NT5C2 0 0 3 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, IRF3 0 1 0 1
CRLF2 1 0 0 1
CRNKL1 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
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: 104
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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
Adenocarcinoma of stomach 0 360 0 360
Neoplasm of the breast 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
Adenocarcinoma of prostate 0 186 0 186
Uterine Carcinosarcoma 0 174 0 174
Cutaneous melanoma 82 81 3 166
Multiple myeloma 0 139 0 139
Uterine cervical neoplasms 0 132 0 132
Neoplasm 0 116 0 116
Squamous cell carcinoma of the skin 0 107 0 107
Chronic lymphocytic leukemia 0 103 1 104
Renal cell carcinoma, papillary, 1 0 104 0 104
Small cell lung cancer 0 98 0 98
Non-small cell lung cancer 40 24 23 87
Brainstem glioma 0 80 0 80
Medulloblastoma 1 78 0 79
Adrenocortical 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 stroma tumor 5 37 1 43
Neoplasm of the thyroid gland 19 22 0 41
Adenoid cystic carcinoma 0 39 0 39
Chronic myelogenous leukemia 0 30 4 34
Myelodysplastic syndrome 0 31 3 34
Nasopharyngeal Neoplasms 0 27 0 27
Ovarian Neoplasms 17 5 2 24
Carcinoma of gallbladder 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
Endometrial neoplasm 0 13 1 14
Lung cancer 6 6 2 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
Multiple endocrine neoplasia, type 4 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
Kidney Carcinoma 0 9 0 9
Noonan syndrome 0 8 0 8
Acute megakaryoblastic leukemia 0 7 0 7
Bladder carcinoma 0 7 0 7
Myeloproliferative disorder 0 7 0 7
Head and Neck Neoplasms 0 6 0 6
Lymphoma 0 6 0 6
Neoplasm of stomach 0 5 1 6
Retinoblastoma 0 6 0 6
Intraocular melanoma 0 5 0 5
Pancreatic Neoplasms 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
Craniosynostosis syndrome 0 3 0 3
Leukemia-Lymphoma, Adult T-Cell 0 0 3 3
Leukemoid Reaction 0 3 0 3
Malignant tumor of floor of mouth 0 3 0 3
Neoplasm of the colon 0 3 0 3
Squamous cell carcinoma 1 2 0 3
Acanthosis nigricans 0 2 0 2
Angiosarcoma 0 2 0 2
Esophageal Squamous Cell Carcinoma 0 2 0 2
Myelofibrosis 0 2 0 2
Neoplasm of the parathyroid gland 0 2 0 2
Osteosarcoma 0 1 1 2
Pilomatrixoma 0 2 0 2
Polycythemia vera 0 1 1 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
Essential thrombocythemia 0 1 0 1
Granulosa Cell Tumor 0 0 1 1
Leukemia, acute, ?X-linked 0 1 0 1
Mast cell disease, systemic 0 1 0 1
Mast cell leukemia 0 1 0 1
Meningeal Neoplasms 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
Trabecular adenocarcinoma 0 0 1 1

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