ClinVar Miner

List of variants studied for 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 by Juno Genomics, Hangzhou Juno Genomics, Inc

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp) rs181860632 0.00010

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