ClinVar Miner

List of variants in gene NARS2 studied for combined oxidative phosphorylation defect type 24

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_024678.6(NARS2):c.260A>C (p.Asn87Thr) rs10501429 0.76474
NM_024678.6(NARS2):c.414T>C (p.Tyr138=) rs10751296 0.71183
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.418C>T (p.Arg140Ter) rs1057524183 0.00006
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.595-6T>G rs774848576 0.00003
NM_024678.6(NARS2):c.641C>T (p.Pro214Leu) rs730882155 0.00003
NM_024678.6(NARS2):c.749G>A (p.Arg250Gln) rs150879145 0.00003
NM_024678.6(NARS2):c.151C>T (p.Arg51Cys) rs367584549 0.00002
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.631T>A (p.Phe211Ile) rs755122704 0.00001
GRCh37/hg19 11q14.1(chr11:78189174-78189989)x1
NC_000011.10:g.(78476711_78486359)del
NC_000011.9:g.(78180360_78189483)_(78189730_78204108)del
NM_024678.6(NARS2):c.100C>G (p.Leu34Val)
NM_024678.6(NARS2):c.1184T>G (p.Leu395Arg) rs763770414
NM_024678.6(NARS2):c.1290G>C (p.Trp430Cys) rs2135124873
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.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>C (p.Phe236Ser)
NM_024678.6(NARS2):c.707T>G (p.Phe236Cys) rs1565235204
NM_024678.6(NARS2):c.822+6703_959+1726del
NM_024678.6(NARS2):c.822+6704_959+1727del
NM_024678.6(NARS2):c.822G>C (p.Gln274His) rs730882154
NM_024678.6(NARS2):c.892T>A (p.Cys298Ser)
NM_024678.6(NARS2):c.947del (p.Asn316fs) rs755975670
NM_024678.6(NARS2):c.959+1505T>G
NM_024678.6(NARS2):c.969T>A (p.Tyr323Ter) rs565224393

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