List of variants in gene combination COX10, LOC105943586 reported as uncertain significance for Mitochondrial complex 4 deficiency, nuclear type 3

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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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.738G>A (p.Pro246=)	rs587780910	0.00014
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.770C>T (p.Pro257Leu)
NM_001303.4(COX10):c.793T>G (p.Phe265Val)
NM_001303.4(COX10):c.845T>C (p.Ile282Thr)
NM_001303.4(COX10):c.858G>C (p.Trp286Cys)
NM_001303.4(COX10):c.878C>T (p.Ala293Val)
NM_001303.4(COX10):c.908C>A (p.Ala303Asp)
NM_001303.4(COX10):c.920T>C (p.Leu307Pro)
NM_001303.4(COX10):c.922G>A (p.Asp308Asn)

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