ClinVar Miner

List of variants reported as benign for myopathy, centronuclear, 2 by Genome-Nilou Lab

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_139343.3(BIN1):c.1002+163T>C rs2276582 0.53506
NM_139343.3(BIN1):c.1372-90C>T rs6745677 0.38066
NM_139343.3(BIN1):c.1573-128T>A rs2071270 0.35075
NM_139343.3(BIN1):c.1132-126_1132-125dup rs35339559 0.33588
NM_139343.3(BIN1):c.412-25T>C rs67327804 0.33319
NM_139343.3(BIN1):c.698+10A>G rs72481904 0.30545
NM_139343.3(BIN1):c.774+62G>A rs2071268 0.30494
NM_139343.3(BIN1):c.486T>C (p.Thr162=) rs1060743 0.29063
NM_139343.3(BIN1):c.1674+56G>A rs7568161 0.20707
NM_139343.3(BIN1):c.858-12C>A rs6720741 0.20254
NM_139343.3(BIN1):c.-27C>T rs11554586 0.13209
NM_139343.3(BIN1):c.1573-63C>T rs7558000
NM_139343.3(BIN1):c.1573-72C>T rs7558001

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.