ClinVar Miner

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

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_004614.5(TK2):c.*2298C>T rs139593959 0.00689
NM_004614.5(TK2):c.231+10C>T rs187517309 0.00486
NM_004614.5(TK2):c.*760T>G rs149832105 0.00462
NM_004614.5(TK2):c.*1740T>C rs548520268 0.00137
NM_004614.4(TK2):c.-216G>A rs190131543 0.00132
NM_004614.5(TK2):c.122C>A (p.Pro41His) rs201904720 0.00073
NM_004614.5(TK2):c.*2540G>T rs574199934

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