ClinVar Miner

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

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 14
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NM_015560.2(OPA1):c.1549G>T (p.Glu517Ter)
NM_015560.2(OPA1):c.1569del (p.Gln524fs) rs1560377736
NM_015560.2(OPA1):c.2241del (p.Phe747fs) rs1553785025
NM_015560.2(OPA1):c.2334G>A (p.Trp778Ter) rs1553785338
NM_015560.2(OPA1):c.2355+1G>A rs1553785362
NM_015560.2(OPA1):c.2496+1G>T rs794727392
NM_015560.2(OPA1):c.256del (p.Arg86fs) rs1553871618
NM_015560.2(OPA1):c.2708_2711delTTAG rs80356530
NM_015560.2(OPA1):c.2825_2828del (p.Val942fs) rs879255560
NM_015560.2(OPA1):c.2848_2854dup (p.Phe952Ter) rs1553797598
NM_015560.2(OPA1):c.635_636del (p.Lys212fs) rs794727804
NM_015560.2(OPA1):c.703C>T (p.Arg235Ter) rs761743852
NM_015560.2(OPA1):c.983A>G (p.Lys328Arg) rs398124303
NM_015560.2(OPA1):c.985-1G>A rs879255510

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