List of variants in gene OPA1 reported as not provided

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_130837.3(OPA1):c.1877G>A (p.Arg626His)	rs140606054	0.00006
NM_130837.3(OPA1):c.740G>A (p.Arg247His)	rs138350727	0.00002
NM_130837.3(OPA1):c.1036G>C (p.Val346Leu)	rs1553876590
NM_130837.3(OPA1):c.1148A>G (p.Lys383Arg)	rs398124303
NM_130837.3(OPA1):c.1230+1G>T	rs80356528
NM_130837.3(OPA1):c.1232_1233dup (p.Ala412fs)	rs863225275
NM_130837.3(OPA1):c.1367G>A (p.Gly456Asp)	rs863225276
NM_130837.3(OPA1):c.1475A>G (p.Gln492Arg)	rs863225277
NM_130837.3(OPA1):c.1499G>A (p.Arg500His)	rs80356529
NM_130837.3(OPA1):c.2873_2876del	rs80356530
NM_130837.3(OPA1):c.2991del (p.Arg998fs)	rs80356531
NM_130837.3(OPA1):c.893T>A (p.Leu298Ter)	rs863225274

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.