List of variants reported as pathogenic for 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 by Fulgent Genetics, Fulgent Genetics

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)	rs113994095	0.00068
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)	rs113994098	0.00028
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro)	rs139590686	0.00008
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys)	rs144500145	0.00006
NM_002693.3(POLG):c.1433+1G>A	rs771623994	0.00004
NM_002693.3(POLG):c.911T>G (p.Leu304Arg)	rs121918044	0.00004
NM_002693.3(POLG):c.2143C>T (p.Gln715Ter)	rs1254855971	0.00001
NM_002693.3(POLG):c.3643+2T>C	rs1335880349
NM_002693.3(POLG):c.925C>T (p.Arg309Cys)	rs886041592

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