ClinVar Miner

List of variants in gene OPA1 reported as likely pathogenic for Autosomal dominant optic atrophy classic form

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Total variants: 10
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NM_015560.2(OPA1):c.1289A>T (p.Asn430Ile) rs1577243012
NM_015560.2(OPA1):c.2131C>T (p.Arg711Ter) rs863224906
NM_015560.2(OPA1):c.2708_2711delTTAG rs80356530
NM_015560.2(OPA1):c.2818+6T>A rs1577335678
NM_015560.2(OPA1):c.870+5G>A rs754576717
NM_130837.2(OPA1):c.1051G>C (p.Asp351His) rs1577228080
NM_130837.3(OPA1):c.164dup (p.Leu55fs)
NM_130837.3(OPA1):c.1890_1891del (p.Glu630fs)
NM_130837.3(OPA1):c.2142del (p.Gln714fs)
NM_130837.3(OPA1):c.2987A>C (p.Lys996Thr)

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