ClinVar Miner

List of variants reported as pathogenic for Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_004614.5(TK2):c.323C>T (p.Thr108Met)	rs137854431	0.00013
NM_004614.5(TK2):c.562A>G (p.Thr188Ala)	rs281865495	0.00001
NM_004614.5(TK2):c.547C>T (p.Arg183Trp)	rs137886900

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