ClinVar Miner

List of variants in gene OPA1 reported as pathogenic by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP
NM_015560.2(OPA1):c.1096C>T (p.Arg366Ter) rs104893753
NM_015560.2(OPA1):c.1146A>G (p.Ile382Met) rs143319805
NM_015560.2(OPA1):c.1204G>A (p.Val402Met) rs879255594
NM_015560.2(OPA1):c.1294A>G (p.Ile432Val) rs387906899
NM_015560.2(OPA1):c.1316G>T (p.Gly439Val) rs387906900
NM_015560.2(OPA1):c.1334G>A (p.Arg445His) rs80356529
NM_015560.2(OPA1):c.1354del (p.Val452fs) rs879255512
NM_015560.2(OPA1):c.1601T>G (p.Leu534Arg) rs869312995
NM_015560.2(OPA1):c.1635C>G (p.Ser545Arg) rs398124298
NM_015560.2(OPA1):c.1652G>A (p.Cys551Tyr) rs879255592
NM_015560.2(OPA1):c.1705+1G>T rs879255595
NM_015560.2(OPA1):c.1745A>G (p.Tyr582Cys) rs121908376
NM_015560.2(OPA1):c.2470C>T (p.Arg824Ter) rs879255593
NM_015560.2(OPA1):c.2708_2711delTTAG rs80356530
NM_015560.2(OPA1):c.2729T>A (p.Val910Asp) rs387906901
NM_015560.2(OPA1):c.2826del (p.Arg943fs) rs80356531
NM_015560.2(OPA1):c.2848_2849del (p.Asp950fs) rs879255513
NM_015560.2(OPA1):c.869G>A (p.Arg290Gln) rs121908375
NM_015560.2(OPA1):c.899G>A (p.Gly300Glu) rs28939082
NM_015560.2(OPA1):c.985-1G>A rs879255510
NM_130831.3(OPA1):c.2717_2720del (p.Val906fs) rs879255560
NM_130837.3(OPA1):c.1458CAT[1] (p.Ile488del) rs879255511

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.