ClinVar Miner

List of variants studied for ataxia neuropathy spectrum by New York Genome Center

Included ClinVar conditions (15):

Infantile onset spinocerebellar ataxia; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Perrault syndrome 5
Mitochondrial DNA depletion syndrome 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4b
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4b
Progressive myoclonic epilepsy type 5
Progressive sclerosing poliodystrophy; Mitochondrial DNA depletion syndrome 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Spinocerebellar ataxia with epilepsy
Progressive sclerosing poliodystrophy; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Spinocerebellar ataxia with epilepsy; Mitochondrial DNA depletion syndrome 4b; Progressive external ophthalmoplegia with mitochondrial DNA deletions
Progressive sclerosing poliodystrophy; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4b
Progressive sclerosing poliodystrophy; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Spinocerebellar ataxia with epilepsy
Recessive mitochondrial ataxia syndrome
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
Spinocerebellar ataxia with epilepsy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.1837C>T (p.His613Tyr)	rs147407423	0.00166
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)	rs145843073	0.00063
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser)	rs202037973	0.00025
NM_002693.3(POLG):c.2218A>G (p.Asn740Asp)	rs78347903	0.00005

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