List of variants in gene combination AARS2, POLR1C reported as benign for combined oxidative phosphorylation deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_020745.4(AARS2):c.*1359A>G	rs534416	0.87948
NM_020745.4(AARS2):c.*341G>A	rs4714775	0.87863
NM_020745.4(AARS2):c.*366T>C	rs325010	0.87836
NM_020745.4(AARS2):c.*423G>A	rs325011	0.87741
NM_020745.4(AARS2):c.*1300C>T	rs1123523	0.18616
NM_020745.4(AARS2):c.*1576A>G	rs1056092	0.17434
NM_020745.4(AARS2):c.*343G>A	rs149050034	0.01086
NM_020745.4(AARS2):c.*1719T>C	rs79454687	0.01085
NM_020745.4(AARS2):c.*926C>T	rs76458008	0.00663
NM_020745.4(AARS2):c.*1284del	rs35562884
NM_020745.4(AARS2):c.*1473G>T	rs116579451
NM_020745.4(AARS2):c.1635_1636insAA	rs34687863
NM_020745.4(AARS2):c.*1710G>T	rs1056093
NM_020745.4(AARS2):c.555_556insATAAA	rs111990690
NM_020745.4(AARS2):c.633_634insGGTATGGGTGCCCT	rs112092257

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