ClinVar Miner

List of variants in gene BRCA2 reported as pathogenic by Yang An-Suei Laboratory, Academia Sinica

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.-5_11del (p.Met1fs) rs1555280073
NM_000059.4(BRCA2):c.2095C>T (p.Gln699Ter) rs878853559
NM_000059.4(BRCA2):c.2754del (p.Asn918fs) rs1555282830
NM_000059.4(BRCA2):c.2990T>G (p.Leu997Ter) rs397507649
NM_000059.4(BRCA2):c.3322A>T (p.Lys1108Ter) rs1555283169
NM_000059.4(BRCA2):c.3883C>T (p.Gln1295Ter) rs879255309
NM_000059.4(BRCA2):c.800dup (p.Thr269fs) rs1555281594
NM_000059.4(BRCA2):c.8206del (p.Leu2736fs) rs397507396
NM_000059.4(BRCA2):c.8400_8402delinsAAAA (p.Phe2801fs) rs483353077
NM_000059.4(BRCA2):c.857C>G (p.Ser286Ter) rs1131692035

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.