ClinVar Miner

List of variants in gene OPA1 studied for Abortive cerebellar ataxia

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Total variants: 12
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NM_001354663.2(OPA1):c.-260_-243del rs863224140
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
NM_130837.2(OPA1):c.245A>G (p.Tyr82Cys) rs749063844
NM_130837.3(OPA1):c.1626A>G (p.Glu542=)
NM_130837.3(OPA1):c.1811C>T (p.Ser604Leu)
NM_130837.3(OPA1):c.2489G>A (p.Trp830Ter)
NM_130837.3(OPA1):c.2924A>G (p.Asp975Gly)
NM_130837.3(OPA1):c.861C>G (p.Ile287Met)

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