ClinVar Miner

List of variants reported as likely benign for breast-ovarian cancer, familial, susceptibility to, 1 by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (7):

Breast-ovarian cancer, familial, susceptibility to, 1
Breast-ovarian cancer, familial, susceptibility to, 1; Carcinoma of pancreas; Hereditary breast ovarian cancer syndrome; Fanconi anemia, complementation group S
Breast-ovarian cancer, familial, susceptibility to, 1; Hereditary breast ovarian cancer syndrome
Breast-ovarian cancer, familial, susceptibility to, 1; Nijmegen breakage syndrome-like disorder
Breast-ovarian cancer, familial, susceptibility to, 1; Pancreatic cancer, susceptibility to, 4; Fanconi anemia, complementation group S
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 1; Pancreatic cancer, susceptibility to, 4
Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 1; Pancreatic cancer, susceptibility to, 4; Fanconi anemia, complementation group S

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile)	rs1799967	0.01348
NM_007294.4(BRCA1):c.3454G>A (p.Asp1152Asn)	rs80357175	0.00004
NM_000059.4(BRCA2):c.317-19_317-12del	rs1555280834

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