ClinVar Miner

List of variants in gene OPA1 reported as pathogenic by Mendelics

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Total variants: 2
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HGVS dbSNP
NM_015560.2(OPA1):c.1346C>G (p.Thr449Arg) rs1577244261
NM_015560.2(OPA1):c.2150_2151del (p.Phe717fs) rs1577297114

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