ClinVar Miner

List of variants studied for autosomal dominant optic atrophy by Mendelics

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_130837.3(OPA1):c.473G>A (p.Ser158Asn)	rs7624750	0.50224
NM_130837.3(OPA1):c.239A>G (p.Tyr80Cys)	rs151103940	0.00116
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)	rs143319805	0.00056
NM_012062.5(DNM1L):c.1292G>A (p.Cys431Tyr)	rs1064794656
NM_130837.3(OPA1):c.1051G>C (p.Asp351His)	rs1577228080
NM_130837.3(OPA1):c.1288T>G (p.Cys430Gly)	rs1313421147
NM_130837.3(OPA1):c.1454A>T (p.Asn485Ile)	rs1577243012
NM_130837.3(OPA1):c.1511C>G (p.Thr504Arg)	rs1577244261
NM_130837.3(OPA1):c.1511del (p.Thr504fs)	rs794729196
NM_130837.3(OPA1):c.2315_2316del (p.Phe772fs)	rs1577297114
NM_130837.3(OPA1):c.2983+6T>A	rs1577335678

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