List of variants in gene OPA1 studied for Abortive cerebellar ataxia; Glaucoma, normal tension, susceptibility to; Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy; Autosomal dominant optic atrophy classic form; Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_130837.3(OPA1):c.653C>T (p.Ser218Phe)	rs200243596	0.00022
NM_130837.3(OPA1):c.2429G>A (p.Arg810His)	rs762258708	0.00001
NM_130837.3(OPA1):c.2617C>T (p.Arg873Trp)	rs143252541	0.00001
NM_130837.3(OPA1):c.2873_2876del	rs80356530

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