List of variants in gene OPA3 studied for Optic Atrophy, Dominant

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 22

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001017989.3(OPA3):c.143-16812G>A	rs192699227	0.00233
NM_025136.4(OPA3):c.6436_6437insG	rs886054506	0.00085
NM_025136.4(OPA3):c.4919_4921del	rs886054514	0.00001
NM_025136.4(OPA3):c.*1294dup	rs74313320
NM_025136.4(OPA3):c.2143_2144del	rs532263532
NM_025136.4(OPA3):c.*3111AGC[3]	rs542311224
NM_025136.4(OPA3):c.*324GT[1]	rs571672143
NM_025136.4(OPA3):c.*3343TCTTT[2]	rs373580645
NM_025136.4(OPA3):c.*4026del	rs879119658
NM_025136.4(OPA3):c.*4026dup	rs879119658
NM_025136.4(OPA3):c.*4132CCCTG[3]	rs68079762
NM_025136.4(OPA3):c.*4696ATAA[6]	rs58537694
NM_025136.4(OPA3):c.*4696ATAA[8]	rs58537694
NM_025136.4(OPA3):c.*4696ATAA[9]	rs58537694
NM_025136.4(OPA3):c.*4712del	rs886054518
NM_025136.4(OPA3):c.4850_4852del	rs144752998
NM_025136.4(OPA3):c.4862_4865del	rs886054515
NM_025136.4(OPA3):c.50_52del	rs886054541
NM_025136.4(OPA3):c.6104_6105del	rs142661638
NM_025136.4(OPA3):c.7096_7100del	rs565521231
NM_025136.4(OPA3):c.*986del	rs377547137
NM_025136.4(OPA3):c.*986dup	rs377547137

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.