ClinVar Miner

List of variants studied for ovarian cancer by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (32):

Autosomal recessive juvenile Parkinson disease 2; Ovarian cancer; Lung cancer
Autosomal recessive juvenile Parkinson disease 2; Ovarian neoplasm; Lung cancer
Familial cancer of breast; Blepharocheilodontic syndrome 1; Endometrial carcinoma; Hereditary diffuse gastric adenocarcinoma; Familial prostate cancer; Ovarian cancer
Familial cancer of breast; Blepharocheilodontic syndrome 1; Endometrial carcinoma; Hereditary diffuse gastric adenocarcinoma; Ovarian cancer
Familial cancer of breast; Blepharocheilodontic syndrome 1; Endometrial carcinoma; Hereditary diffuse gastric adenocarcinoma; Ovarian neoplasm; Malignant tumor of prostate
Familial cancer of breast; Classic Hodgkin lymphoma; Ovarian neoplasm; Thyroid cancer, nonmedullary, 1
Familial cancer of breast; Fanconi anemia complementation group N; Familial ovarian cancer
Familial cancer of breast; Hemifacial myohyperplasia; Megalencephaly-capillary malformation-polymicrogyria syndrome; Congenital macrodactylia; Seborrheic keratosis; Epidermal nevus; CLAPO syndrome; CLOVES syndrome; Ovarian cancer; Cerebral cavernous malformation 4; Cowden syndrome 5; Hepatocellular carcinoma; Gastric cancer; Colorectal cancer; Lung cancer
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; Ovarian neoplasm
Familial cancer of breast; Ovarian neoplasm; Lung cancer
Familial cancer of breast; Proteus syndrome; Ovarian cancer; Cowden syndrome 6; Colorectal cancer
Familial cancer of breast; Proteus syndrome; Ovarian neoplasm; Cowden syndrome 6; Colorectal cancer
Familial ovarian cancer
Familial ovarian carcinoma
Fanconi anemia complementation group J; Familial ovarian cancer
Fanconi anemia complementation group J; Ovarian neoplasm
Glioma susceptibility 1; Ovarian cancer; Gastric cancer; Lung cancer; Visceral neuropathy, familial, 2, autosomal recessive
Hereditary site-specific ovarian cancer syndrome
Leprosy, susceptibility to, 2; Lung carcinoma; Autosomal recessive juvenile Parkinson disease 2; Ovarian neoplasm
Malignant germ cell tumor of ovary
Medulloblastoma; Pilomatrixoma; Ovarian cancer; Severe intellectual disability-progressive spastic diplegia syndrome; Hepatocellular carcinoma; Colorectal cancer; Exudative vitreoretinopathy 7
Medulloblastoma; Pilomatrixoma; Ovarian neoplasm; Carcinoma of colon; Severe intellectual disability-progressive spastic diplegia syndrome; Hepatocellular carcinoma; Exudative vitreoretinopathy 7
Medulloblastoma; Pilomatrixoma; Ovarian neoplasm; Severe intellectual disability-progressive spastic diplegia syndrome; Hepatocellular carcinoma; Colorectal cancer; Exudative vitreoretinopathy 7
Ovarian cancer
Ovarian cancer; Malignant tumor of breast
Ovarian carcinoma
Ovarian neoplasm
Ovarian neoplasm; Breast carcinoma
Ovarian neoplasm; Melanoma
Ovarian serous surface papillary adenocarcinoma

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile)	rs1805324	0.01651
NM_000535.7(PMS2):c.1569C>G (p.Ser523=)	rs141458772	0.00560
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)	rs36053993	0.00341
NM_000321.3(RB1):c.367A>G (p.Asn123Asp)	rs149800437	0.00010
NM_000535.7(PMS2):c.706-4del	rs60794673
NM_007294.4(BRCA1):c.1728dup (p.Glu577fs)	rs397507192

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