ClinVar Miner

List of variants studied for mitochondrial DNA depletion syndrome by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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.1399G>A (p.Ala467Thr) rs113994095 0.00068
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser) rs113994098 0.00028
NM_003850.3(SUCLA2):c.850C>T (p.Arg284Cys) rs121908538 0.00001

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