ClinVar Miner

List of variants studied for Optic atrophy 3 by Genome-Nilou Lab

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_025136.4(OPA3):c.231T>C (p.Ala77=) rs3826860 0.70508
NM_025136.3(OPA3):c.-75G>A rs45598532 0.06189
NM_025136.4(OPA3):c.142+69G>C rs62111684 0.03152
NM_025136.4(OPA3):c.-38A>G rs45527139 0.02241

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