List of variants reported as uncertain significance for Combined oxidative phosphorylation defect type 27 by Revvity Omics, Revvity

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_024537.4(CARS2):c.244G>A (p.Val82Ile)	rs117788141	0.00055
NM_024537.4(CARS2):c.563C>T (p.Thr188Met)	rs142034206	0.00030
NM_024537.4(CARS2):c.1162G>A (p.Gly388Ser)	rs746241006	0.00001
NM_024537.4(CARS2):c.1417-2A>C
NM_024537.4(CARS2):c.204del (p.His69fs)

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