ClinVar Miner

List of variants in gene OPA3 reported as uncertain significance by GeneDx

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Total variants: 18
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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 0.00135
NM_001017989.3(OPA3):c.258G>C (p.Glu86Asp) rs202205093 0.00014
NM_001017989.3(OPA3):c.514C>T (p.Pro172Ser) rs201023208 0.00009
NM_025136.4(OPA3):c.372C>A (p.Asp124Glu) rs755348694 0.00004
NM_025136.4(OPA3):c.423G>C (p.Gln141His) rs863224144 0.00004
NM_025136.4(OPA3):c.143-5C>A rs770452409 0.00003
NM_025136.4(OPA3):c.241G>A (p.Ala81Thr) rs186796646 0.00002
NM_025136.4(OPA3):c.503G>A (p.Arg168Gln) rs779505447 0.00001
NM_001017989.3(OPA3):c.331A>G (p.Lys111Glu)
NM_025136.4(OPA3):c.142+4A>T rs765495449
NM_025136.4(OPA3):c.143-13T>G rs1278896715
NM_025136.4(OPA3):c.296T>C (p.Leu99Pro) rs1555732924
NM_025136.4(OPA3):c.316G>C (p.Ala106Pro) rs750013718
NM_025136.4(OPA3):c.389C>T (p.Ala130Val) rs780275755
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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