ClinVar Miner

List of variants in gene ESRRB reported as likely pathogenic by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001379180.1(ESRRB):c.1011dup (p.Leu338fs) rs1555344820
NM_001379180.1(ESRRB):c.1088_1089del (p.Val363fs) rs876657643
NM_001379180.1(ESRRB):c.1224G>A (p.Trp408Ter) rs727503041
NM_001379180.1(ESRRB):c.1268_1272del (p.Thr423fs) rs727504577
NM_001379180.1(ESRRB):c.808C>T (p.Arg270Ter) rs202023138
NM_004452.3(ESRRB):c.(?_1501)_(1527_?)del (p.?)

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.