ClinVar Miner

List of variants studied for breast-ovarian cancer, familial, susceptibility to, 1 by Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili

Included ClinVar conditions (8):

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
Lynch syndrome 1; Breast-ovarian cancer, familial, susceptibility to, 1

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.1674del (p.Gly559fs)	rs80357600
NM_007294.4(BRCA1):c.3862G>T (p.Glu1288Ter)	rs876659708
NM_007294.4(BRCA1):c.4523G>A (p.Trp1508Ter)	rs786202631
NM_007294.4(BRCA1):c.5177_5180del (p.Arg1726fs)	rs80357867

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