ClinVar Miner

List of variants in gene ATP1A3 reported as likely pathogenic for autosomal dominant optic atrophy

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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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_152296.5(ATP1A3):c.2224G>T (p.Asp742Tyr)	rs1135401822
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys)	rs1064797245
NM_152296.5(ATP1A3):c.2543G>C (p.Gly848Ala)	rs1599705281
NM_152296.5(ATP1A3):c.2552A>G (p.Gln851Arg)	rs2145946065
NM_152296.5(ATP1A3):c.265G>T (p.Gly89Cys)
NM_152296.5(ATP1A3):c.2839G>T (p.Gly947Trp)	rs398122887
NM_152296.5(ATP1A3):c.460A>G (p.Met154Val)	rs1135401821
NM_152296.5(ATP1A3):c.967C>T (p.Pro323Ser)	rs864309572
NM_152296.5(ATP1A3):c.974G>A (p.Gly325Asp)	rs863224847

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