ClinVar Miner

List of variants in gene COX10, LOC105943586 studied for mitochondrial complex 4 deficiency, nuclear type 3

Included ClinVar conditions (1):
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Gene type:
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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001303.4(COX10):c.781G>T (p.Ala261Ser) rs138560674 0.00025
NM_001303.4(COX10):c.736C>T (p.Pro246Ser) rs777697759 0.00002
NM_001303.4(COX10):c.724TGT[1] (p.Cys243del) rs775741794
NM_001303.4(COX10):c.878C>T (p.Ala293Val)

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