ClinVar Miner

List of variants studied for Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_078470.6(COX15):c.1209T>C (p.Asn403=) rs34652235 0.01341
NM_078470.6(COX15):c.548G>A (p.Arg183His) rs35483721 0.00915
NM_004376.7(COX15):c.-84G>A rs574143521 0.00036
NM_078470.6(COX15):c.929C>G (p.Pro310Arg) rs138293000 0.00031
NM_078470.6(COX15):c.452C>G (p.Ser151Ter) rs149718203 0.00030
NM_078470.6(COX15):c.131G>A (p.Ser44Asn) rs141506146 0.00011
NM_078470.6(COX15):c.396-3C>G rs200910834 0.00011
NM_078470.6(COX15):c.532C>T (p.Arg178Cys) rs192078749 0.00008
NM_078470.6(COX15):c.1015G>A (p.Val339Met) rs141830307 0.00006
NM_078470.6(COX15):c.649C>T (p.Arg217Trp) rs28939711 0.00004
NM_078470.6(COX15):c.686C>A (p.Ser229Ter) rs201002908 0.00002
NM_078470.6(COX15):c.211C>T (p.Arg71Ter) rs751819645 0.00001
NM_078470.6(COX15):c.305G>A (p.Trp102Ter) rs778412019 0.00001
NM_078470.6(COX15):c.469C>T (p.Arg157Cys) rs988250515 0.00001
NM_078470.6(COX15):c.91-1G>C rs1409285901 0.00001
NM_003172.4(SURF1):c.758_759del (p.Thr253fs) rs782349178
NM_078470.6(COX15):c.1030T>C (p.Ser344Pro) rs397514662
NM_078470.6(COX15):c.1039del (p.Ile347fs) rs766283832
NM_078470.6(COX15):c.209G>A (p.Gly70Asp)
NM_078470.6(COX15):c.287G>T (p.Gly96Val) rs771992107
NM_078470.6(COX15):c.319G>T (p.Glu107Ter)
NM_078470.6(COX15):c.597G>A (p.Trp199Ter)
NM_078470.6(COX15):c.679C>G (p.Leu227Val) rs2133606863
NM_078470.6(COX15):c.717G>A (p.Trp239Ter) rs886046611
NM_078470.6(COX15):c.750+1G>A rs2036859860
NM_078470.6(COX15):c.750+1G>T rs2036859860
NM_078470.6(COX15):c.751-2A>T
NM_078470.6(COX15):c.755del (p.Pro252fs)
NM_078470.6(COX15):c.839T>C (p.Phe280Ser) rs2492679787

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