ClinVar Miner

List of variants in gene LRBA reported as uncertain significance by Blueprint Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val) rs116355217 0.00225
NM_001364905.1(LRBA):c.8551C>T (p.Arg2851Cys) rs145709687 0.00152
NM_001364905.1(LRBA):c.787C>G (p.Leu263Val) rs143625481 0.00076
NM_001364905.1(LRBA):c.8024C>T (p.Thr2675Ile) rs202244838 0.00067
NM_001364905.1(LRBA):c.1771T>C (p.Tyr591His) rs138890467 0.00038
NM_001364905.1(LRBA):c.1161+4G>T rs374666604 0.00013
NM_001364905.1(LRBA):c.8461G>A (p.Asp2821Asn) rs191145485 0.00009
NM_001364905.1(LRBA):c.7795A>G (p.Ile2599Val) rs1288341022 0.00004
NM_001364905.1(LRBA):c.4919T>C (p.Val1640Ala) rs773862243 0.00001
NM_001364905.1(LRBA):c.8531G>A (p.Trp2844Ter) rs1323561325 0.00001
NM_001364905.1(LRBA):c.3373C>G (p.Leu1125Val) rs138238756
NM_001364905.1(LRBA):c.549+6A>C rs199594598
NM_001364905.1(LRBA):c.5786G>A (p.Arg1929Gln) rs747575946
NM_001364905.1(LRBA):c.6667+5C>G rs751485504
NM_001364905.1(LRBA):c.8350C>T (p.Leu2784Phe) rs867668931

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.