ClinVar Miner

List of variants reported as 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):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_002437.4(MPV17):c.71-2_79delins4
NM_002437.5(MPV17):c.280-1dup rs766160589
NM_002437.5(MPV17):c.293del (p.Pro98fs) rs1553383480
NM_002437.5(MPV17):c.376-1G>A rs1423840146
NM_002437.5(MPV17):c.376-2A>C rs113055360

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