List of variants in gene AARS2 reported as pathogenic 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: 9

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HGVS	dbSNP	gnomAD frequency
NM_020745.4(AARS2):c.1774C>T (p.Arg592Trp)	rs138119149	0.00025
NM_020745.4(AARS2):c.1561C>T (p.Arg521Ter)	rs587777591	0.00001
NM_020745.4(AARS2):c.2255+1G>A	rs1186074948	0.00001
NM_020745.4(AARS2):c.464T>G (p.Leu155Arg)	rs387907061	0.00001
NM_020745.4(AARS2):c.964C>T (p.Arg322Cys)	rs767748655	0.00001
NM_020745.4(AARS2):c.1040+1G>A	rs1561941287
NM_020745.4(AARS2):c.1082C>T (p.Ser361Phe)	rs2153355304
NM_020745.4(AARS2):c.2487+1G>C	rs2153353848
NM_020745.4(AARS2):c.647dup (p.Cys218fs)	rs587777589

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