ClinVar Miner

List of variants studied for mitochondrial DNA depletion syndrome by Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology

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_001953.5(TYMP):c.86dup (p.Ser30fs)
NM_002693.3(POLG):c.1403A>T (p.Asn468Ile)
NM_021830.5(TWNK):c.793C>T (p.Arg265Cys) rs764669712

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