ClinVar Miner

List of variants in gene OPA1 reported as pathogenic for Abortive cerebellar ataxia

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Total variants: 5
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NM_015560.2(OPA1):c.1146A>G (p.Ile382Met) rs143319805
NM_015560.2(OPA1):c.1204G>A (p.Val402Met) rs879255594
NM_015560.2(OPA1):c.1705+1G>T rs879255595
NM_015560.2(OPA1):c.2470C>T (p.Arg824Ter) rs879255593
NM_015560.2(OPA1):c.2708_2711delTTAG rs80356530

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