ClinVar Miner

List of variants reported as benign for mitochondrial neurogastrointestinal encephalomyopathy by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (11):

Mitochondrial DNA depletion syndrome 1
Mitochondrial DNA depletion syndrome 4b
Mitochondrial neurogastrointestinal encephalomyopathy
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; Mitochondrial DNA depletion syndrome 4b
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; 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; 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; 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

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.3708G>T (p.Gln1236His)	rs3087374	0.06272
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly)	rs2307441	0.02704
NM_002693.3(POLG):c.1586-5del	rs2307434	0.00891

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