List of variants in gene AARS2 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: 23

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HGVS	dbSNP	gnomAD frequency
NM_020745.4(AARS2):c.1015A>G (p.Ile339Val)	rs324136	0.89518
NM_020745.4(AARS2):c.2871A>G (p.Ser957=)	rs325008	0.87930
NM_020745.4(AARS2):c.2683-20A>G	rs325007	0.87773
NM_020745.4(AARS2):c.2598+117G>C	rs325005	0.87685
NM_020745.4(AARS2):c.2607G>A (p.Lys869=)	rs498512	0.67400
NM_020745.4(AARS2):c.243+6G>A	rs167772	0.50019
NM_020745.4(AARS2):c.1753-14C>G	rs74950428	0.03853
NM_020745.4(AARS2):c.2188G>A (p.Val730Met)	rs35623954	0.03189
NM_020745.4(AARS2):c.2426T>A (p.Leu809Gln)	rs35967387	0.01853
NM_020745.4(AARS2):c.2548A>G (p.Met850Val)	rs35783144	0.01782
NM_020745.4(AARS2):c.420G>A (p.Gly140=)	rs75506489	0.01671
NM_020745.4(AARS2):c.2440G>A (p.Val814Met)	rs111325758	0.01670
NM_020745.4(AARS2):c.1753-13T>C	rs80339975	0.01667
NM_020745.4(AARS2):c.861C>A (p.Asp287Glu)	rs115815965	0.01205
NM_020745.4(AARS2):c.1196A>G (p.Asn399Ser)	rs113433939	0.01077
NM_020745.4(AARS2):c.1412G>A (p.Arg471Gln)	rs34530313	0.01004
NM_020745.4(AARS2):c.749+14G>A	rs74709196	0.00947
NM_020745.4(AARS2):c.2629C>T (p.Arg877Trp)	rs112247130	0.00812
NM_020745.4(AARS2):c.1752G>A (p.Glu584=)	rs78525157	0.00653
NM_020745.4(AARS2):c.2007+8C>T	rs150125794	0.00599
NM_020745.4(AARS2):c.1041-29A>G	rs7740535
NM_020745.4(AARS2):c.2255+35C>A	rs325002
NM_020745.4(AARS2):c.2793+86_2793+87insCAGA	rs10627820

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