ClinVar Miner

List of variants studied for mitochondrial complex 4 deficiency, nuclear type 3 by Revvity Omics, Revvity

Included ClinVar conditions (1):
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001303.4(COX10):c.*1459del rs574015313 0.00016
NM_001303.4(COX10):c.1007A>T (p.Asp336Val) rs104894557 0.00006
NM_001303.4(COX10):c.674C>T (p.Pro225Leu) rs104894556 0.00001
NM_001303.4(COX10):c.172C>T (p.Arg58Cys)
NM_001303.4(COX10):c.724TGT[1] (p.Cys243del) rs775741794

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