ClinVar Miner

Variants in gene OPA1 with conflicting interpretations "likely pathogenic" and "pathogenic"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 13
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HGVS dbSNP gnomAD frequency
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 0.00056
NM_130837.3(OPA1):c.1936-2A>G rs747454971 0.00001
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln) rs121908375
NM_130837.3(OPA1):c.1035+5G>A rs754576717
NM_130837.3(OPA1):c.1364C>T (p.Pro455Leu) rs794727069
NM_130837.3(OPA1):c.1935+1G>C rs1711518217
NM_130837.3(OPA1):c.2661+1G>T rs794727392
NM_130837.3(OPA1):c.2734C>T (p.Arg912Ter) rs794727405
NM_130837.3(OPA1):c.2779-9A>G rs1716524583
NM_130837.3(OPA1):c.2873_2876del rs80356530
NM_130837.3(OPA1):c.2984-1_2986del rs2109460398
NM_130837.3(OPA1):c.2990_2993del (p.Val997fs) rs879255560
NM_130837.3(OPA1):c.610+364G>A rs983041061

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