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):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
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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