List of variants in gene NARS2 reported as pathogenic for combined oxidative phosphorylation defect type 24

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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: 16

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HGVS	dbSNP	gnomAD frequency
NM_024678.6(NARS2):c.418C>T (p.Arg140Ter)	rs1057524183	0.00006
NM_024678.6(NARS2):c.167A>G (p.Gln56Arg)	rs201751992	0.00005
NM_024678.6(NARS2):c.641C>T (p.Pro214Leu)	rs730882155	0.00003
NM_024678.6(NARS2):c.151C>T (p.Arg51Cys)	rs367584549	0.00002
NM_024678.6(NARS2):c.500A>G (p.His167Arg)	rs750594551	0.00001
NM_024678.6(NARS2):c.631T>A (p.Phe211Ile)	rs755122704	0.00001
NC_000011.10:g.(78476711_78486359)del
NC_000011.9:g.(78180360_78189483)_(78189730_78204108)del
NM_024678.6(NARS2):c.1184T>G (p.Leu395Arg)	rs763770414
NM_024678.6(NARS2):c.545T>A (p.Ile182Lys)	rs748779965
NM_024678.6(NARS2):c.594+1G>A	rs1035101172
NM_024678.6(NARS2):c.595-1G>A
NM_024678.6(NARS2):c.707T>G (p.Phe236Cys)	rs1565235204
NM_024678.6(NARS2):c.822G>C (p.Gln274His)	rs730882154
NM_024678.6(NARS2):c.936_949dup (p.Asn317delinsIleCysTer)
NM_024678.6(NARS2):c.969T>A (p.Tyr323Ter)	rs565224393

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