List of variants reported as likely pathogenic for Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln)	rs121908375
NM_130837.3(OPA1):c.1118C>G (p.Ser373Cys)	rs2109015193
NM_130837.3(OPA1):c.1511del (p.Thr504fs)	rs794729196
NM_130837.3(OPA1):c.1720G>A (p.Glu574Lys)	rs2109058910
NM_130837.3(OPA1):c.1728_1734del (p.Glu576fs)	rs2109058985
NM_130837.3(OPA1):c.2873_2876del	rs80356530
NM_130837.3(OPA1):c.3G>A (p.Met1Ile)	rs1724946838
NM_130837.3(OPA1):c.970T>C (p.Ser324Pro)	rs2109011385

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