List of variants in gene CARS2 reported as benign for combined oxidative phosphorylation deficiency

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 27

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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_024537.4(CARS2):c.1239T>C (p.Asp413=)	rs436462	0.42363
NM_024537.4(CARS2):c.417C>T (p.Leu139=)	rs2304767	0.23275
NM_024537.4(CARS2):c.1664A>C (p.Gln555Pro)	rs1043886	0.10889
NM_024537.4(CARS2):c.538A>T (p.Ile180Phe)	rs72661692	0.07201
NM_024537.4(CARS2):c.647G>A (p.Gly216Glu)	rs146773721	0.01595
NM_024537.4(CARS2):c.1132C>T (p.Arg378Cys)	rs79081036	0.01302
NM_024537.4(CARS2):c.1624-12C>G	rs115116722	0.00724
NM_024537.4(CARS2):c.1681A>G (p.Lys561Glu)	rs188068027	0.00590
NM_024537.4(CARS2):c.1317+10C>T	rs141996297	0.00555
NM_024537.4(CARS2):c.1054+8G>A	rs374859	0.00434
NM_024537.4(CARS2):c.1417-17C>T	rs113709957	0.00417
NM_024537.4(CARS2):c.1489G>A (p.Val497Ile)	rs146355429	0.00386
NM_024537.4(CARS2):c.1128C>T (p.Asp376=)	rs142070578	0.00308
NM_024537.4(CARS2):c.930C>T (p.His310=)	rs143532600	0.00232
NM_024537.4(CARS2):c.1531G>A (p.Ala511Thr)	rs147216443	0.00166
NM_024537.4(CARS2):c.1318-12G>A	rs191969046	0.00161
NM_024537.4(CARS2):c.586G>A (p.Asp196Asn)	rs140082252	0.00087
NM_024537.4(CARS2):c.564G>A (p.Thr188=)	rs76988055	0.00049
NM_024537.4(CARS2):c.1308G>A (p.Ala436=)	rs141349632	0.00027
NM_024537.4(CARS2):c.1059C>T (p.Ile353=)	rs200079151	0.00009
NM_024537.4(CARS2):c.1417-57dup	rs11414164
NM_024537.4(CARS2):c.394-13A>C	rs575543110
NM_024537.4(CARS2):c.572-3_572-2del	rs201758363
NM_024537.4(CARS2):c.920-8del	rs2139748776

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