ClinVar Miner

List of variants studied for cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_005138.3(SCO2):c.713C>T (p.Thr238Met) rs149439760 0.00039
NM_005138.3(SCO2):c.378G>A (p.Met126Ile) rs150880212 0.00025
NM_005138.3(SCO2):c.127C>G (p.Pro43Ala) rs147185850 0.00022
NM_005138.3(SCO2):c.784C>T (p.Arg262Cys) rs201174948 0.00009
NM_005138.3(SCO2):c.244A>G (p.Lys82Glu) rs765425160 0.00003
NM_005138.3(SCO2):c.616C>T (p.Arg206Cys) rs748770403 0.00003
NM_005138.3(SCO2):c.508G>C (p.Glu170Gln) rs753614511
NM_005138.3(SCO2):c.652dup (p.Gln218fs) rs2148670938

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