ClinVar Miner

List of variants studied for mitochondrial DNA depletion syndrome by Genetics and Molecular Pathology, SA Pathology

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_001080449.3(DNA2):c.1213T>C (p.Tyr405His) rs2133402393
NM_006796.3(AFG3L2):c.1714G>A (p.Ala572Thr)

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