ClinVar Miner

List of variants reported as likely benign for Mitochondrial DNA depletion syndrome by Illumina Laboratory Services, Illumina

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_080916.2(DGUOK):c.-48G>A rs10186730 0.04865
NM_003849.3(SUCLG1):c.-133C>T rs12621740 0.01126
NM_003849.4(SUCLG1):c.201+9A>G rs116492610 0.01020
NM_003849.4(SUCLG1):c.*55G>C rs80166442 0.01010
NM_003849.4(SUCLG1):c.*207A>G rs73942653 0.00784
NM_015713.5(RRM2B):c.*2151_*2152insA rs563908556 0.00332
NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln) rs369223258 0.00009
NM_015713.5(RRM2B):c.*3003_*3004del rs552260099
NM_021830.5(TWNK):c.*472GA[2] rs370783985
NM_021830.5(TWNK):c.-306GT[1] rs146265037

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