ClinVar Miner

List of variants reported as not provided for respiratory system cancer by Database of Curated Mutations (DoCM)

Included ClinVar conditions (36):

Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma susceptibility 1; Bone osteosarcoma; Li-Fraumeni syndrome 1; Nasopharyngeal carcinoma; Carcinoma of pancreas; Choroid plexus papilloma; Basal cell carcinoma, susceptibility to, 7; Hepatocellular carcinoma; Colorectal cancer; Bone marrow failure syndrome 5
Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma susceptibility 1; Bone osteosarcoma; Li-Fraumeni syndrome 1; Nasopharyngeal carcinoma; Carcinoma of pancreas; Choroid plexus papilloma; Carcinoma of colon; Basal cell carcinoma, susceptibility to, 7; Hepatocellular carcinoma
Adrenocortical carcinoma, hereditary; Familial cancer of breast; Glioma susceptibility 1; Bone osteosarcoma; Li-Fraumeni syndrome 1; Nasopharyngeal carcinoma; Choroid plexus papilloma; Basal cell carcinoma, susceptibility to, 7; Familial pancreatic carcinoma; Hepatocellular carcinoma; Colorectal cancer; Bone marrow failure syndrome 5
Autoimmune lymphoproliferative syndrome type 1; Lung cancer
Autosomal recessive juvenile Parkinson disease 2; Ovarian neoplasm; Lung cancer
Bone osteosarcoma; Malignant tumor of urinary bladder; Small cell lung carcinoma; Retinoblastoma
Cardiofaciocutaneous syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7; Melanoma, cutaneous malignant, susceptibility to, 1; Colorectal cancer; Lung cancer
Cardiofaciocutaneous syndrome 1; Lung carcinoma; Noonan syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7
Cardiofaciocutaneous syndrome 1; Noonan syndrome 1; LEOPARD syndrome 3; Noonan syndrome 7; Melanoma, cutaneous malignant, susceptibility to, 1; Colorectal cancer; Lung cancer
DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2; Lung carcinoma; UV-sensitive syndrome 1; Age related macular degeneration 5; Premature ovarian failure 11
DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2; UV-sensitive syndrome 1; Age related macular degeneration 5; Premature ovarian failure 11; Lung cancer
Euthyroid goiter; Pleuropulmonary blastoma
Euthyroid goiter; Rhabdomyosarcoma, embryonal, 2; Pleuropulmonary blastoma; Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome
Familial cancer of breast; Autoimmune lymphoproliferative syndrome type 2B; Hepatocellular carcinoma; Lung cancer
Familial cancer of breast; Hereditary diffuse gastric adenocarcinoma; Lung carcinoma; Noonan syndrome 3; Linear nevus sebaceous syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Carcinoma of pancreas; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2
Familial cancer of breast; Lung carcinoma; Malignant tumor of prostate; Carcinoma of colon
Familial cancer of breast; Megalencephaly-capillary malformation-polymicrogyria syndrome; Congenital macrodactylia; Seborrheic keratosis; Epidermal nevus; Ovarian neoplasm; CLAPO syndrome; CLOVES syndrome; Cowden syndrome 5; Hepatocellular carcinoma; Gastric cancer; Colorectal cancer; Lung cancer
Familial cancer of breast; Megalencephaly-capillary malformation-polymicrogyria syndrome; Lung carcinoma; Congenital macrodactylia; Seborrheic keratosis; Epidermal nevus; Ovarian neoplasm; CLAPO syndrome; CLOVES syndrome; Carcinoma of colon; Neoplasm of stomach; Cowden syndrome 5; Hepatocellular carcinoma
Familial cancer of breast; Noonan syndrome 3; Linear nevus sebaceous syndrome; Toriello-Lacassie-Droste syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2; Familial pancreatic carcinoma; Gastric cancer; Lung cancer
Familial cancer of breast; Noonan syndrome 3; Linear nevus sebaceous syndrome; Toriello-Lacassie-Droste syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Carcinoma of pancreas; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2; Gastric cancer; Lung cancer
Familial cancer of breast; Ovarian neoplasm; Lung cancer
Inflammatory skin and bowel disease, neonatal, 2; Lung cancer
Laryngeal squamous cell carcinoma
Leprosy, susceptibility to, 2; Lung carcinoma; Autosomal recessive juvenile Parkinson disease 2; Ovarian neoplasm
Lung adenocarcinoma
Lung cancer
Lung carcinoma
Lung sarcomatoid carcinoma
Nasopharyngeal carcinoma
Nasopharyngeal carcinoma, susceptibility to, 3
Non-small cell lung carcinoma
Non-small cell lung carcinoma; Neoplasm of the large intestine
Pleuropulmonary blastoma
Rhabdomyosarcoma, embryonal, 2; Pleuropulmonary blastoma
Small cell lung carcinoma
Squamous cell lung carcinoma

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_001348946.2(ABCB1):c.3435T>C (p.Ile1145=)	rs1045642	0.57896
NM_000400.4(ERCC2):c.2251A>C (p.Lys751Gln)	rs13181	0.31719
NM_000903.3(NQO1):c.559C>T (p.Pro187Ser)	rs1800566	0.20869
NM_006297.3(XRCC1):c.580C>T (p.Arg194Trp)	rs1799782	0.06906
NM_006182.4(DDR2):c.1513G>A (p.Gly505Ser)	rs115169993	0.00292
NM_006182.4(DDR2):c.187C>G (p.Leu63Val)	rs144594252	0.00006
NM_017617.5(NOTCH1):c.6979C>T (p.Arg2327Trp)	rs751007903	0.00002
NM_004985.5(KRAS):c.437C>T (p.Ala146Val)	rs1057519725	0.00001
NM_000222.3(KIT):c.1727T>C (p.Leu576Pro)	rs121913513
NM_001654.5(ARAF):c.641C>G (p.Ser214Cys)	rs1057519786
NM_004304.5(ALK):c.3455T>G (p.Leu1152Arg)	rs1057519785
NM_004304.5(ALK):c.3467G>A (p.Cys1156Tyr)	rs1057519859
NM_004304.5(ALK):c.3522C>A (p.Phe1174Leu)	rs863225281
NM_004304.5(ALK):c.3586C>A (p.Leu1196Met)	rs1057519784
NM_004304.5(ALK):c.3604G>A (p.Gly1202Arg)	rs1057519783
NM_004304.5(ALK):c.3617C>A (p.Ser1206Tyr)	rs1057519782
NM_004304.5(ALK):c.3806G>C (p.Gly1269Ala)	rs1057519781
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)	rs113488022
NM_004985.5(KRAS):c.34G>T (p.Gly12Cys)	rs121913530
NM_004985.5(KRAS):c.35G>C (p.Gly12Ala)	rs121913529
NM_005228.5(EGFR):c.2389T>A (p.Cys797Ser)	rs1057519861
NM_006182.4(DDR2):c.1912A>T (p.Ile638Phe)	rs1057519789
NM_006182.4(DDR2):c.2304T>A (p.Ser768Arg)	rs267598140
NM_006182.4(DDR2):c.2321G>T (p.Gly774Val)	rs1057519790
NM_006182.4(DDR2):c.757G>T (p.Gly253Cys)	rs376303676
NM_017617.5(NOTCH1):c.4924G>C (p.Asp1642His)	rs1057519863

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