ClinVar Miner

List of variants in gene RAD50 studied for ovarian cancer

Included ClinVar conditions (29):

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 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; 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 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
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 adenocarcinoma
Ovarian cancer
Ovarian cancer; Malignant tumor of breast
Ovarian carcinoma
Ovarian neoplasm
Ovarian neoplasm; Breast carcinoma
Ovarian neoplasm; Melanoma
Ovarian serous cystadenocarcinoma
Ovarian serous surface papillary adenocarcinoma

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 5

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005732.4(RAD50):c.1094G>A (p.Arg365Gln)	rs146370443	0.00026
NM_005732.4(RAD50):c.760C>T (p.Arg254Cys)	rs555367432	0.00009
NM_005732.4(RAD50):c.2530A>C (p.Ser844Arg)	rs373817937	0.00001
NM_005732.4(RAD50):c.323A>G (p.Lys108Arg)	rs542347773	0.00001
NM_005732.4(RAD50):c.1829A>G (p.His610Arg)	rs527518431

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