ClinVar Miner

List of variants in gene combination COX15, ENTPD7 reported as uncertain significance for Mitochondrial complex IV deficiency, nuclear type 1

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004376.5(COX15):c.*3647A>T rs200422911
NM_004376.5(COX15):c.*4439G>A rs201701928
NM_020354.5(ENTPD7):c.*6425_*6426dup rs11405417

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