ClinVar Miner

List of variants studied for mitochondrial DNA depletion syndrome by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

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_002437.5(MPV17):c.293C>T (p.Pro98Leu) rs267607258 0.00006
NM_021830.5(TWNK):c.1387C>T (p.Arg463Trp) rs386834146 0.00001
NM_021830.5(TWNK):c.1729_1732del (p.Ala577fs)

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