ClinVar Miner

List of variants in gene combination NCAPH2, SCO2, TYMP reported as benign for cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_005138.3(SCO2):c.633A>C (p.Ala211=) rs12148 0.63421
NM_005138.3(SCO2):c.582C>T (p.Ser194=) rs131811 0.05449
NM_005138.3(SCO2):c.327C>T (p.His109=) rs75485962 0.02713
NM_005138.3(SCO2):c.59G>C (p.Arg20Pro) rs140523

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