ClinVar Miner

List of variants reported as pathogenic for mitochondrial DNA depletion syndrome 6 (hepatocerebral type) by Natera, Inc.

Included ClinVar conditions (2):

Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type); Charcot-Marie-Tooth disease, axonal, type 2EE

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		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_002437.5(MPV17):c.149G>A (p.Arg50Gln)	rs121909721	0.00003
NM_002437.5(MPV17):c.280-1dup	rs766160589

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