ClinVar Miner

Variants in gene OPA1 with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_130837.3(OPA1):c.2961C>T (p.Arg987=) rs35540805 0.00758
NM_130837.3(OPA1):c.2049A>G (p.Val683=) rs73069703 0.00753
NM_130837.3(OPA1):c.420G>T (p.Val140=) rs35801538 0.00577
NM_130837.3(OPA1):c.1236A>G (p.Ala412=) rs150807064 0.00179
NM_130837.3(OPA1):c.2332-19C>A rs77355463 0.00155
NM_130837.3(OPA1):c.2872+15G>C rs199763700 0.00136
NM_130837.3(OPA1):c.2880A>G (p.Arg960=) rs144898877 0.00109
NM_130837.3(OPA1):c.85C>G (p.Pro29Ala) rs145565705 0.00103
NM_130837.3(OPA1):c.949-11A>C rs376681712 0.00094
NM_130837.3(OPA1):c.748G>A (p.Ala250Thr) rs143918255 0.00085
NM_130837.3(OPA1):c.254G>A (p.Arg85His) rs35630194 0.00068
NM_130837.3(OPA1):c.32+14C>T rs201927764 0.00054
NM_130837.3(OPA1):c.1302T>G (p.Pro434=) rs139861334 0.00050
NM_130837.3(OPA1):c.2610C>T (p.Thr870=) rs139934030 0.00042
NM_130837.3(OPA1):c.2421G>T (p.Leu807=) rs148047706 0.00041
NM_130837.3(OPA1):c.2984-4A>G rs184273607 0.00039
NM_130837.3(OPA1):c.921C>T (p.Asp307=) rs147242797 0.00029
NM_130837.3(OPA1):c.2088G>A (p.Ala696=) rs138114609 0.00028
NM_130837.3(OPA1):c.2592T>C (p.Leu864=) rs145999595 0.00020
NM_130837.3(OPA1):c.88C>T (p.Leu30=) rs185976555 0.00019
NM_130837.3(OPA1):c.1293C>T (p.Thr431=) rs111488647 0.00016
NM_130837.3(OPA1):c.2319G>A (p.Ala773=) rs144690080 0.00007
NM_130837.3(OPA1):c.1377+10T>C rs200114656 0.00006
NM_130837.3(OPA1):c.2331+10T>C rs371096629 0.00005
NM_130837.3(OPA1):c.1036-8G>T rs367618769 0.00004
NM_130837.3(OPA1):c.448+50A>G rs377239493 0.00003
NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del) rs863224140
NM_130837.3(OPA1):c.182A>G (p.Gln61Arg) rs558532319
NM_130837.3(OPA1):c.949-12_949-11insTA rs544490050

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.