ClinVar Miner

List of variants reported as benign for mitochondrial DNA depletion syndrome 6 (hepatocerebral type)

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

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_002437.5(MPV17):c.462-21T>C	rs62130714	0.23408
NM_002437.5(MPV17):c.27G>T (p.Arg9=)	rs35244252	0.00420
NM_002437.5(MPV17):c.444G>A (p.Leu148=)	rs776964645	0.00014

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