ClinVar Miner

List of variants reported as pathogenic for mitochondrial DNA depletion syndrome by Undiagnosed Diseases Network, NIH

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_002693.3(POLG):c.3218C>T (p.Pro1073Leu) rs267606959 0.00002

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