ClinVar Miner

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

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.408+1G>A	rs749361266	0.00001
NM_002437.5(MPV17):c.428T>G (p.Leu143Ter)	rs763400903	0.00001
NM_002437.5(MPV17):c.375G>A (p.Arg125=)	rs1064793178

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