ClinVar Miner

List of variants in gene BRCA1 reported as pathogenic by University of Washington Department of Laboratory Medicine, University of Washington

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
Download table as spreadsheet
NM_007294.3(BRCA1):c.5152+1G>C rs80358094
NM_007294.3(BRCA1):c.5406+4_5406+7del rs1555575073
NM_007294.4(BRCA1):c.1016dup (p.Val340fs) rs80357569
NM_007294.4(BRCA1):c.2035A>T (p.Lys679Ter) rs80357082
NM_007294.4(BRCA1):c.2138C>G (p.Ser713Ter) rs80357233
NM_007294.4(BRCA1):c.2457del (p.Asp821fs) rs80357669
NM_007294.4(BRCA1):c.2868del (p.Gln957fs) rs80357929
NM_007294.4(BRCA1):c.3748G>T (p.Glu1250Ter) rs28897686
NM_007294.4(BRCA1):c.3771_3772delinsC (p.Glu1257fs) rs397507218
NM_007294.4(BRCA1):c.4039_4040AG[1] (p.Gly1348fs) rs80357727
NM_007294.4(BRCA1):c.5194-2A>G rs80358069
NM_007294.4(BRCA1):c.66_67AG[1] (p.Glu23fs) rs80357914

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.