ClinVar Miner

List of variants reported as pathogenic for mitochondrial complex 4 deficiency, nuclear type 17

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001370595.2(COA8):c.314T>C (p.Phe105Ser) rs587777786 0.00001
NC_000014.9:g.102573453_103575949del
NM_001370595.2(COA8):c.-10dup rs559856575
NM_001370595.2(COA8):c.124-1G>A rs587777785
NM_001370595.2(COA8):c.170_173dup (p.Pro59fs)
NM_001370595.2(COA8):c.196C>T (p.Arg66Ter) rs587777784
NM_001370595.2(COA8):c.328GAA[1] (p.Glu111del) rs587777787

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