ClinVar Miner

List of variants studied for Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_004614.5(TK2):c.-38A>G rs3743716 0.25659
NM_004614.5(TK2):c.619-53A>G rs2241619 0.13547
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.-30C>G rs3743715
NM_004614.5(TK2):c.126_128del (p.Asp42_Lys43delinsGlu)
NM_004614.5(TK2):c.547C>T (p.Arg183Trp) rs137886900

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