ClinVar Miner

List of variants studied for breast-ovarian cancer, familial, susceptibility to, 1 by Centro de Genética y Biología Molecular, Universidad de San Martín de Porres

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
		ClinVar version:

Total variants: 4

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_007294.4(BRCA1):c.140G>T (p.Cys47Phe)	rs80357150
NM_007294.4(BRCA1):c.302-1G>C	rs80358116
NM_007294.4(BRCA1):c.4647_4648dup (p.Thr1550fs)	rs869025213
NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs)	rs387906563

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