ClinVar Miner

List of variants reported as uncertain significance for mitochondrial complex 4 deficiency, nuclear type 3 by Revvity Omics, Revvity

Included ClinVar conditions (1):

Mitochondrial complex 4 deficiency, nuclear type 3

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001303.4(COX10):c.*1459del	rs574015313	0.00016
NM_001303.4(COX10):c.172C>T (p.Arg58Cys)
NM_001303.4(COX10):c.724TGT[1] (p.Cys243del)	rs775741794

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