ClinVar Miner

List of variants studied for mitochondrial DNA depletion syndrome by Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center

Included ClinVar conditions (58):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_002437.5(MPV17):c.451dup (p.Leu151fs) rs267607267
NM_004614.5(TK2):c.699+6_699+9del rs529176585

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