List of variants in gene combination AARS2, POLR1C reported as likely benign for combined oxidative phosphorylation defect type 8

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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: 10

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HGVS	dbSNP	gnomAD frequency
NM_020745.4(AARS2):c.861C>A (p.Asp287Glu)	rs115815965	0.01205
NM_020745.4(AARS2):c.1412G>A (p.Arg471Gln)	rs34530313	0.01004
NM_020745.4(AARS2):c.1752G>A (p.Glu584=)	rs78525157	0.00653
NM_020745.4(AARS2):c.2033G>A (p.Arg678Gln)	rs150973108	0.00340
NM_020745.4(AARS2):c.1398C>T (p.Ser466=)	rs146711725	0.00249
NM_020745.4(AARS2):c.*1007A>G	rs538721769	0.00229
NM_020745.4(AARS2):c.1162C>T (p.Pro388Ser)	rs139372744	0.00220
NM_020745.4(AARS2):c.2253G>A (p.Gly751=)	rs78397386	0.00210
NM_020745.4(AARS2):c.1084A>T (p.Met362Leu)	rs147091256	0.00185
NM_020745.4(AARS2):c.1661G>A (p.Arg554His)	rs139280416	0.00014

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