ClinVar Miner

List of variants studied for mitochondrial DNA depletion syndrome by Department of Heart Center, Qingdao Women and Children's Hospital

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_018238.4(AGK):c.409C>T (p.Arg137Ter) rs746709222 0.00001
NM_018238.4(AGK):c.1131+2T>C rs1797560612
NM_018238.4(AGK):c.390G>A (p.Glu130=) rs771375243

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