List of variants reported as benign for Combined oxidative phosphorylation defect type 27 by Genome-Nilou Lab

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_024537.4(CARS2):c.987+292T>G	rs376834	0.81351
NM_024537.4(CARS2):c.987+247T>C	rs2296658	0.77296
NM_024537.4(CARS2):c.852A>G (p.Glu284=)	rs4628819	0.77143
NM_024537.3(CARS2):c.-48C>T	rs3818496	0.59027
NM_024537.4(CARS2):c.1239T>C (p.Asp413=)	rs436462	0.42363
NM_024537.4(CARS2):c.1417-57dup	rs11414164

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