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

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_024537.4(CARS2):c.563C>T (p.Thr188Met)	rs142034206	0.00030
NM_024537.4(CARS2):c.1609G>A (p.Gly537Ser)	rs777503937	0.00008
NM_024537.4(CARS2):c.1259T>C (p.Val420Ala)	rs146878400	0.00006
NM_024537.4(CARS2):c.1432G>A (p.Gly478Ser)	rs372734645	0.00004
NM_024537.4(CARS2):c.688G>A (p.Ala230Thr)	rs772065497	0.00001
NM_024537.4(CARS2):c.868T>C (p.Cys290Arg)	rs1240392926	0.00001

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