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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_005138.3(SCO2):c.16_17insAGCATGCAGCAGTGACTCA (p.Arg6fs)	rs749838192	0.00091
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.178C>T (p.Arg60Trp)	rs753779965	0.00002
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.227_230del (p.Leu76fs)
NM_005138.3(SCO2):c.256C>T (p.Gln86Ter)	rs2069218741
NM_005138.3(SCO2):c.2T>C (p.Met1Thr)	rs1603441682
NM_005138.3(SCO2):c.398G>A (p.Cys133Tyr)	rs28937868
NM_005138.3(SCO2):c.401_402del (p.Pro134fs)
NM_005138.3(SCO2):c.544C>T (p.Gln182Ter)
NM_005138.3(SCO2):c.577G>A (p.Gly193Ser)
NM_005138.3(SCO2):c.674C>T (p.Ser225Phe)	rs80358232

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