ClinVar Miner

List of variants in gene OPA1 reported as likely benign by PreventionGenetics, part of Exact Sciences

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_130837.3(OPA1):c.2880A>G (p.Arg960=) rs144898877 0.00109
NM_130837.3(OPA1):c.2421G>T (p.Leu807=) rs148047706 0.00041
NM_130837.3(OPA1):c.1936-9A>G rs367798637 0.00034
NM_130837.3(OPA1):c.921C>T (p.Asp307=) rs147242797 0.00029
NM_130837.3(OPA1):c.2592T>C (p.Leu864=) rs145999595 0.00020
NM_130837.3(OPA1):c.2441-4dup rs761286590 0.00019
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.-8C>T rs371988066 0.00012
NM_130837.3(OPA1):c.1944A>G (p.Leu648=) rs781571640 0.00004
NM_130837.3(OPA1):c.253C>T (p.Arg85Cys) rs372435892 0.00004
NM_130837.3(OPA1):c.3048A>G (p.Ter1016=) rs143929819 0.00004
NM_130837.3(OPA1):c.1557C>T (p.Phe519=) rs779207157 0.00003
NM_130837.3(OPA1):c.33-8T>C rs370303596 0.00003
NM_130837.3(OPA1):c.611-9A>G rs372157755 0.00003
NM_130837.3(OPA1):c.351+8T>C rs1016013021 0.00002
NM_130837.3(OPA1):c.1176T>C (p.His392=) rs372782168 0.00001
NM_130837.3(OPA1):c.2012+7A>G rs767488490 0.00001
NM_130837.3(OPA1):c.603C>T (p.Leu201=) rs377506325 0.00001
NM_130837.3(OPA1):c.1608+6G>A
NM_130837.3(OPA1):c.182A>G (p.Gln61Arg) rs558532319
NM_130837.3(OPA1):c.2179-37G>A
NM_130837.3(OPA1):c.2179-39T>C
NM_130837.3(OPA1):c.449-28A>G
NM_130837.3(OPA1):c.610+363C>T
NM_130837.3(OPA1):c.696C>T (p.Leu232=) rs375209295

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