List of variants in gene combination AARS2, POLR1C studied 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
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_020745.4(AARS2):c.1534G>C (p.Asp512His)	rs146512155	0.00073
NM_020745.4(AARS2):c.*1473del	rs766302064	0.00016
NM_020745.4(AARS2):c.*1112dup	rs112521684
NM_020745.4(AARS2):c.1284_1287del	rs201274623
NM_020745.4(AARS2):c.*1284del	rs35562884
NM_020745.4(AARS2):c.1635_1636insAA	rs34687863
NM_020745.4(AARS2):c.555_556insATAAA	rs111990690
NM_020745.4(AARS2):c.633_634insGGTATGGGTGCCCT	rs112092257
NM_020745.4(AARS2):c.1189-16_1189-14del	rs144914586

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