ClinVar Miner

List of variants in gene OPA3 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_025136.4(OPA3):c.*2696C>G rs148705681 0.00585
NM_025136.4(OPA3):c.*2101A>T rs139606810 0.00363
NM_025136.4(OPA3):c.*3360G>A rs545764728 0.00156
NM_001017989.3(OPA3):c.414G>A (p.Ala138=) rs566450630
NM_001017989.3(OPA3):c.454C>T (p.Leu152=)
NM_025136.4(OPA3):c.143-1G>C rs80356523
NM_025136.4(OPA3):c.289C>T (p.Leu97=) rs755295420
NM_025136.4(OPA3):c.311A>C (p.His104Pro)
NM_025136.4(OPA3):c.313C>G (p.Gln105Glu) rs80356525
NM_025136.4(OPA3):c.314A>G (p.Gln105Arg) rs1599964580
NM_025136.4(OPA3):c.340G>T (p.Glu114Ter)
NM_025136.4(OPA3):c.411G>T (p.Gln137His) rs1969373503

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