ClinVar Miner

List of variants studied for Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 by Genome-Nilou Lab

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.2071-22T>C rs2072267 0.56891
NM_002693.3(POLG):c.3483-19T>G rs2307438 0.44213
NM_002693.3(POLG):c.3105-11T>C rs2302084 0.32855
NM_002693.3(POLG):c.3105-36A>G rs2246900 0.31986
NM_002693.3:c.2734+39_2734+40insAGGT rs2152061162

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