ClinVar Miner

List of variants in gene OPA1 reported as likely pathogenic by Mendelics

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Gene type:
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Total variants: 4
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NM_015560.2(OPA1):c.1289A>T (p.Asn430Ile) rs1577243012
NM_015560.2(OPA1):c.1346del (p.Thr449fs) rs794729196
NM_015560.2(OPA1):c.2818+6T>A rs1577335678
NM_130837.2(OPA1):c.1051G>C (p.Asp351His) rs1577228080

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