ClinVar Miner

List of variants in gene BRIP1 reported as pathogenic by BRCAlab, Lund University

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986 0.00010
NM_032043.3(BRIP1):c.633del (p.Gly212fs) rs779466229 0.00002
NM_032043.3(BRIP1):c.2732dup (p.Thr912fs) rs752780954 0.00001
NM_032043.3(BRIP1):c.1223_1224insT (p.Ser409fs)
NM_032043.3(BRIP1):c.1970del (p.Gly657fs) rs760782298
NM_032043.3(BRIP1):c.2109_2110insCC (p.Leu704fs)
NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter) rs574552037
NM_032043.3(BRIP1):c.2839_2840del (p.Gln947fs)
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs) rs771028677
NM_032043.3(BRIP1):c.3396dup (p.Thr1133fs)
NM_032043.3(BRIP1):c.3527dup (p.Glu1178fs)

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.