ClinVar Miner

List of variants studied for Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 by OMIM

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_005138.3(SCO2):c.418G>A (p.Glu140Lys) rs74315511 0.00011
NM_005138.3(SCO2):c.157C>T (p.Gln53Ter) rs74315510 0.00004
NM_005138.3(SCO2):c.268C>T (p.Arg90Ter) rs74315512 0.00002
NM_005138.3(SCO2):c.511C>T (p.Arg171Trp) rs28937598 0.00001
NM_005138.3(SCO2):c.107G>A (p.Trp36Ter) rs121908508
NM_005138.3(SCO2):c.179_188dup (p.Ile63fs) rs1467767014
NM_005138.3(SCO2):c.398G>A (p.Cys133Tyr) rs28937868
NM_005138.3(SCO2):c.674C>T (p.Ser225Phe) rs80358232

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