ClinVar Miner

List of variants reported as benign for obsolete anophthalmia-microphthalmia syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_021728.4(OTX2):c.459C>T (p.Ser153=) rs34537598 0.00961
NM_021728.4(OTX2):c.97+12C>T rs28757218 0.00889
NM_021728.4(OTX2):c.831C>T (p.Asn277=) rs78559885 0.00171
NM_021728.4(OTX2):c.97+20C>T rs369946194 0.00063
NM_021728.4(OTX2):c.840T>C (p.Ala280=) rs201396096 0.00005
NM_021728.4(OTX2):c.444G>C (p.Pro148=) rs147896150

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.