List of variants in gene combination AARS2, POLR1C reported as likely 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: 8

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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.595C>T (p.Arg199Cys)	rs200105202	0.00007
NM_020745.4(AARS2):c.2146-2A>G	rs368934219	0.00001
NM_020745.4(AARS2):c.985C>T (p.Arg329Cys)	rs200187887	0.00001
NM_020745.4(AARS2):c.2531T>C (p.Leu844Pro)	rs1170907347
NM_020745.4(AARS2):c.2599-1G>A	rs1785349774
NM_020745.4(AARS2):c.459G>A (p.Trp153Ter)	rs1786349461
NM_020745.4(AARS2):c.790G>A (p.Val264Met)	rs2153356902

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