ClinVar Miner

List of variants studied for mitochondrial DNA depletion syndrome by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (58):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001953.5(TYMP):c.622G>A (p.Val208Met) rs121913039 0.00027
NM_003849.4(SUCLG1):c.507del (p.Asn171fs) rs797046017

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