ClinVar Miner

List of variants reported as pathogenic for mitochondrial DNA depletion syndrome by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (57):
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Total variants: 5
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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.911T>G (p.Leu304Arg) rs121918044 0.00004
NM_001278716.2(FBXL4):c.1648_1649del (p.Asp550fs) rs1554215986
NM_003850.3(SUCLA2):c.751G>A (p.Asp251Asn) rs397515462
NM_003850.3(SUCLA2):c.815A>T (p.Asp272Val) rs1555256440

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