ClinVar Miner

List of variants studied for autosomal dominant optic atrophy by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

Included ClinVar conditions (14):

3-Methylglutaconic aciduria type 3; Optic atrophy 3
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)
Abortive cerebellar ataxia; Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy; Autosomal dominant optic atrophy classic form
Autosomal dominant optic atrophy classic form
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome; Dystonia 12; Alternating hemiplegia of childhood 2
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome; Dystonia 12; Alternating hemiplegia of childhood 2; Developmental and epileptic encephalopathy 99
Dominant hereditary optic atrophy
Optic atrophy 3
Optic atrophy 3; 3-Methylglutaconic aciduria
Optic atrophy 5
Optic atrophy 5; Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy; Autosomal dominant optic atrophy classic form

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_130837.3(OPA1):c.1734dup (p.Gln579fs)	rs1560377736
NM_130837.3(OPA1):c.2779-9A>G	rs1716524583
NM_130837.3(OPA1):c.2873_2876del	rs80356530
NM_152296.5(ATP1A3):c.2312C>T (p.Thr771Ile)	rs557939077
NM_152296.5(ATP1A3):c.2543G>C (p.Gly848Ala)	rs1599705281

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