ClinVar Miner

List of variants studied for autosomal dominant optic atrophy by Baylor Genetics

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: 10

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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.1016C>T (p.Thr339Met)	rs141326740	0.00004
NM_012062.5(DNM1L):c.1207C>T (p.Arg403Cys)	rs863223953
NM_012062.5(DNM1L):c.2072A>G (p.Tyr691Cys)	rs1565548029
NM_012062.5(DNM1L):c.763_764dup (p.Lys256fs)	rs1592631789
NM_025136.4(OPA3):c.301T>C (p.Tyr101His)	rs1969377552
NM_130837.3(OPA1):c.1034G>A (p.Arg345Gln)	rs121908375
NM_152296.5(ATP1A3):c.1402G>T (p.Ala468Ser)	rs2075231562
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys)	rs1064797245
NM_152296.5(ATP1A3):c.2839G>T (p.Gly947Trp)	rs398122887

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