ClinVar Miner

List of variants in gene OPA1 reported as likely pathogenic by Athena Diagnostics Inc

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Gene type:
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Total variants: 8
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NM_015560.2(OPA1):c.1009C>G (p.His337Asp) rs1553877591
NM_015560.2(OPA1):c.1462G>A (p.Gly488Arg) rs1553878554
NM_015560.2(OPA1):c.2818+3G>C rs1553788117
NM_015560.2(OPA1):c.870+5G>A rs754576717
NM_015560.2(OPA1):c.871-1G>T rs863224130
NM_015560.2(OPA1):c.985-2A>T rs886041317
NM_130837.3(OPA1):c.1886T>C (p.Leu629Pro)
NM_130837.3(OPA1):c.3010del (p.Asp1005fs)

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