ClinVar Miner

List of variants reported as likely pathogenic for mitochondrial DNA depletion syndrome 6 (hepatocerebral type) by Mendelics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_002437.5(MPV17):c.268TTG[1] (p.Leu91del) rs267607264

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