List of variants reported as likely pathogenic for mitochondrial complex 4 deficiency, nuclear type 3

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
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.413_414del (p.Lys138fs)	rs2142182514
NM_001303.4(COX10):c.620del (p.Asn207fs)

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