ClinVar Miner

List of variants reported as uncertain significance for Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_005138.3(SCO2):c.-114G>C rs554814235 0.00142
NM_005138.3(SCO2):c.341G>A (p.Arg114His) rs145100473 0.00076
NM_005138.3(SCO2):c.237G>A (p.Arg79=) rs150485659 0.00036
NM_005138.3(SCO2):c.303G>C (p.Gln101His) rs141551295 0.00014
NM_005138.3(SCO2):c.162C>T (p.Gly54=) rs139545104 0.00010
NM_005138.3(SCO2):c.173G>A (p.Arg58Gln) rs375383752 0.00009
NM_005138.3(SCO2):c.541G>A (p.Val181Ile) rs147624681 0.00007
NM_005138.3(SCO2):c.-83A>G rs886057632 0.00006
NM_005138.3(SCO2):c.723C>T (p.Tyr241=) rs375345044 0.00004
NM_005138.3(SCO2):c.244A>G (p.Lys82Glu) rs765425160 0.00003
NM_005138.3(SCO2):c.512G>A (p.Arg171Gln) rs775173963 0.00002
NM_005138.3(SCO2):c.-51C>T rs886057631 0.00001
NM_005138.3(SCO2):c.406A>C (p.Ile136Leu) rs781539081 0.00001
NM_005138.3(SCO2):c.4C>G (p.Leu2Val) rs747642461 0.00001
NM_005138.3(SCO2):c.535C>T (p.Arg179Cys) rs780314255 0.00001
NM_005138.3(SCO2):c.202G>A (p.Gly68Arg)
NM_005138.3(SCO2):c.202G>C (p.Gly68Arg)
NM_005138.3(SCO2):c.221C>A (p.Ala74Asp)
NM_005138.3(SCO2):c.226C>T (p.Leu76=) rs942543259
NM_005138.3(SCO2):c.250A>G (p.Arg84Gly)
NM_005138.3(SCO2):c.276A>G (p.Glu92=) rs886057630
NM_005138.3(SCO2):c.358C>T (p.Arg120Trp)
NM_005138.3(SCO2):c.386G>A (p.Gly129Asp)
NM_005138.3(SCO2):c.533C>T (p.Ala178Val)
NM_005138.3(SCO2):c.738G>A (p.Ser246=) rs200605042
NM_005138.3(SCO2):c.738G>C (p.Ser246=) rs200605042
NM_005138.3(SCO2):c.763C>T (p.Arg255Trp)
NM_005138.3(SCO2):c.764G>T (p.Arg255Leu) rs368908383

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