ClinVar Miner

List of variants reported as likely pathogenic for mitochondrial DNA depletion syndrome 6 (hepatocerebral type) by Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine

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.275A>G (p.Asp92Gly)	rs1057524366
NM_002437.5(MPV17):c.297T>A (p.Cys99Ter)	rs1553383467
NM_002437.5(MPV17):c.461G>T (p.Arg154Met)	rs886044113

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