ClinVar Miner

List of variants in gene RRM2B studied for Progressive external ophthalmoplegia with mitochondrial DNA deletions

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_015713.5(RRM2B):c.*2151_*2152insA rs563908556 0.00332
NM_015713.5(RRM2B):c.*2613del rs886062563 0.00002
NM_015713.5(RRM2B):c.*1894dup rs150629554
NM_015713.5(RRM2B):c.*2328A>T rs886062565
NM_015713.5(RRM2B):c.*2492AAGTT[1] rs886062564
NM_015713.5(RRM2B):c.*3003_*3004del rs552260099
NM_015713.5(RRM2B):c.*74del rs886062569

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