ClinVar Miner

List of variants in gene BRCA1 reported as pathogenic by Department of Pathology and Molecular Medicine,Queen's University

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP
NC_000017.10:g.(?_41201201)_(41209076_?)del
NC_000017.10:g.(?_41223008)_(41234592_?)del
NM_007294.3(BRCA1):c.1390_1391insG (p.Thr464fs) rs397508867
NM_007294.3(BRCA1):c.1439dupA (p.Asn480Lysfs) rs80357505
NM_007294.3(BRCA1):c.181T>G (p.Cys61Gly) rs28897672
NM_007294.3(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_007294.3(BRCA1):c.2035A>T (p.Lys679Ter) rs80357082
NM_007294.3(BRCA1):c.2071del (p.Arg691fs) rs80357688
NM_007294.3(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007294.3(BRCA1):c.2338C>T (p.Gln780Ter) rs80356945
NM_007294.3(BRCA1):c.2702_2703del (p.Thr900_Phe901insTer) rs80357899
NM_007294.3(BRCA1):c.2834_2836delinsC (p.Ser945fs) rs386134270
NM_007294.3(BRCA1):c.3607C>T (p.Arg1203Ter) rs62625308
NM_007294.3(BRCA1):c.3748G>T (p.Glu1250Ter) rs28897686
NM_007294.3(BRCA1):c.3759dupT (p.Lys1254Terfs) rs80357687
NM_007294.3(BRCA1):c.3895C>T (p.Gln1299Ter) rs80357038
NM_007294.3(BRCA1):c.4035del (p.Glu1346fs) rs80357711
NM_007294.3(BRCA1):c.4039_4040AG[1] (p.Gly1348fs) rs80357727
NM_007294.3(BRCA1):c.4186-?_4357+?dup172
NM_007294.3(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_007294.3(BRCA1):c.4348del (p.Ser1450fs) rs1135401932
NM_007294.3(BRCA1):c.4822dup (p.Ala1608fs) rs1135401933
NM_007294.3(BRCA1):c.4901_4919del (p.Arg1634fs) rs1555580678
NM_007294.3(BRCA1):c.5039_5040del (p.Ile1680fs) rs1135401935
NM_007294.3(BRCA1):c.5200_5201insC (p.Phe1734fs) rs1135401936
NM_007294.3(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.