ClinVar Miner

List of variants in gene DGUOK studied for Mitochondrial DNA depletion syndrome

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_080916.2(DGUOK):c.-48G>A rs10186730 0.04865
NM_080916.3(DGUOK):c.592-9del rs749290011 0.00012
NM_080916.2(DGUOK):c.-54C>A rs753666732
NM_080916.2(DGUOK):c.-60_-57dup rs567251538
NM_080916.3(DGUOK):c.*206_*210dup rs554820333
NM_080918.3(DGUOK):c.444-907AAGT[3]

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