ClinVar Miner

List of variants in gene OPA3 reported as uncertain significance for not provided

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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_001017989.3(OPA3):c.184G>A (p.Gly62Ser) rs140959406 0.00223
NM_025136.4(OPA3):c.478C>T (p.Arg160Cys) rs137978109 0.00127
NM_025136.4(OPA3):c.*677C>T rs560749495 0.00086
NM_001017989.3(OPA3):c.258G>C (p.Glu86Asp) rs202205093 0.00013
NM_001017989.3(OPA3):c.514C>T (p.Pro172Ser) rs201023208 0.00009
NM_001017989.3(OPA3):c.454C>T (p.Leu152=) rs376630127 0.00005
NM_025136.4(OPA3):c.372C>A (p.Asp124Glu) rs755348694 0.00004
NM_025136.4(OPA3):c.143-5C>A rs770452409 0.00003
NM_025136.4(OPA3):c.423G>C (p.Gln141His) rs863224144 0.00003
NM_025136.4(OPA3):c.121A>G (p.Ile41Val) rs766584469 0.00001
NM_025136.4(OPA3):c.241G>A (p.Ala81Thr) rs186796646 0.00001
NM_025136.4(OPA3):c.373G>A (p.Glu125Lys) rs1346674058 0.00001
NM_025136.4(OPA3):c.503G>A (p.Arg168Gln) rs779505447 0.00001
NM_025136.4(OPA3):c.540G>C (p.Ter180Tyr) rs774281852 0.00001
NM_001017989.3(OPA3):c.216C>G (p.Asn72Lys)
NM_001017989.3(OPA3):c.331A>G (p.Lys111Glu) rs1969031550
NM_025136.4(OPA3):c.*4696ATAA[6] rs58537694
NM_025136.4(OPA3):c.*4696ATAA[9] rs58537694
NM_025136.4(OPA3):c.142+4A>T rs765495449
NM_025136.4(OPA3):c.143-13T>G rs1278896715
NM_025136.4(OPA3):c.235C>A (p.Leu79Met) rs886037828
NM_025136.4(OPA3):c.256G>A (p.Glu86Lys) rs1969378628
NM_025136.4(OPA3):c.265A>G (p.Ile89Val) rs2513824366
NM_025136.4(OPA3):c.311A>C (p.His104Pro) rs2513824199
NM_025136.4(OPA3):c.314A>G (p.Gln105Arg) rs1599964580
NM_025136.4(OPA3):c.316G>C (p.Ala106Pro) rs750013718
NM_025136.4(OPA3):c.340G>T (p.Glu114Ter) rs2513824079
NM_025136.4(OPA3):c.389C>T (p.Ala130Val) rs780275755
NM_025136.4(OPA3):c.398_421del (p.Leu133_Val140del) rs1555732873
NM_025136.4(OPA3):c.403G>A (p.Ala135Thr)
NM_025136.4(OPA3):c.410A>C (p.Gln137Pro) rs372161100
NM_025136.4(OPA3):c.410A>T (p.Gln137Leu) rs372161100
NM_025136.4(OPA3):c.411G>T (p.Gln137His) rs1969373503
NM_025136.4(OPA3):c.424G>C (p.Ala142Pro) rs535683352
NM_025136.4(OPA3):c.424G>T (p.Ala142Ser) rs535683352
NM_025136.4(OPA3):c.425C>T (p.Ala142Val) rs2122438899

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