List of variants reported as uncertain significance for Mitochondrial complex 4 deficiency, nuclear type 4

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_004589.4(SCO1):c.868A>G (p.Ile290Val)	rs139771078	0.00058
NM_004589.4(SCO1):c.94C>G (p.Pro32Ala)	rs762163897	0.00009
NM_004589.4(SCO1):c.787A>G (p.Ile263Val)	rs111708860	0.00008
NM_004589.4(SCO1):c.259C>T (p.Pro87Ser)	rs757958481	0.00004
NM_004589.4(SCO1):c.430A>G (p.Thr144Ala)	rs368098002	0.00004
NM_004589.4(SCO1):c.140G>A (p.Arg47Gln)	rs746265672	0.00003
NM_004589.4(SCO1):c.203G>A (p.Ser68Asn)	rs767557634	0.00002
NM_004589.4(SCO1):c.271G>A (p.Gly91Arg)	rs753607085	0.00002
NM_004589.4(SCO1):c.304T>G (p.Phe102Val)	rs539094737	0.00002
NM_004589.4(SCO1):c.242C>G (p.Pro81Arg)	rs1224695466	0.00001
NM_004589.4(SCO1):c.445C>T (p.Arg149Cys)	rs762548598	0.00001
NM_004589.4(SCO1):c.881T>A (p.Met294Lys)	rs775176412	0.00001
NM_004589.4(SCO1):c.10C>G (p.Leu4Val)
NM_004589.4(SCO1):c.555del (p.Asp185fs)
NM_004589.4(SCO1):c.563-11CT[2]
NM_004589.4(SCO1):c.722A>G (p.Tyr241Cys)

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