ClinVar Miner

List of variants studied for mitochondrial DNA depletion syndrome by Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University

Included ClinVar conditions (57):
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.3286C>T (p.Arg1096Cys) rs201732356 0.00003
NM_002437.5(MPV17):c.375G>A (p.Arg125=) rs1064793178
NM_003850.3(SUCLA2):c.920C>T (p.Ala307Val) rs1011464708

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