ClinVar Miner

List of variants studied for Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 by OMIM

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_007215.4(POLG2):c.1105A>G (p.Arg369Gly)	rs201936720	0.00002
NM_007215.4(POLG2):c.1352G>A (p.Gly451Glu)	rs104894632
NM_007215.4(POLG2):c.1423_1424del (p.Leu475fs)	rs1568079613
NM_007215.4(POLG2):c.614C>G (p.Pro205Arg)	rs397514659

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