List of variants in gene NARS2 reported as uncertain significance 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: 16

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HGVS	dbSNP	gnomAD frequency
NM_024678.6(NARS2):c.640C>A (p.Pro214Thr)	rs140016209	0.00069
NM_024678.6(NARS2):c.606_607insAGC (p.Lys202_Leu203insSer)	rs762191692	0.00043
NM_024678.6(NARS2):c.1253G>A (p.Arg418His)	rs535877562	0.00020
NM_024678.6(NARS2):c.847A>G (p.Thr283Ala)	rs549442380	0.00010
NM_024678.6(NARS2):c.167A>G (p.Gln56Arg)	rs201751992	0.00005
NM_024678.6(NARS2):c.1291T>C (p.Tyr431His)	rs370150532	0.00004
NM_024678.6(NARS2):c.1303C>T (p.Arg435Cys)	rs1481123553	0.00001
NM_024678.6(NARS2):c.500A>G (p.His167Arg)	rs750594551	0.00001
NM_024678.6(NARS2):c.100C>G (p.Leu34Val)
NM_024678.6(NARS2):c.1290G>C (p.Trp430Cys)	rs2135124873
NM_024678.6(NARS2):c.1306C>G (p.Arg436Gly)	rs751383065
NM_024678.6(NARS2):c.1352G>A (p.Arg451His)
NM_024678.6(NARS2):c.1361A>G (p.Gln454Arg)	rs1399346230
NM_024678.6(NARS2):c.436A>G (p.Arg146Gly)	rs1856737824
NM_024678.6(NARS2):c.707T>C (p.Phe236Ser)
NM_024678.6(NARS2):c.892T>A (p.Cys298Ser)

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