ClinVar Miner

List of variants in gene COX10, LOC130060303 studied for mitochondrial complex 4 deficiency, nuclear type 3

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
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001303.4(COX10):c.34C>T (p.Leu12Phe)	rs748637459	0.00001
NM_001303.4(COX10):c.2T>C (p.Met1Thr)	rs387906383

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