ClinVar Miner

List of variants reported as likely benign for breast-ovarian cancer, familial, susceptibility to, 1 by Department of Medical Genetics, University Hospital of North Norway

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)
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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp)	rs1800709	0.00137
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His)	rs28897677	0.00060
NM_007294.4(BRCA1):c.548-17G>T	rs80358014	0.00028
NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala)	rs80356860	0.00005
NM_007294.4(BRCA1):c.-20+521_-20+525del	rs770929332
NM_007294.4(BRCA1):c.486G>T (p.Val162=)	rs769213707

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