ClinVar Miner

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

Included ClinVar conditions (2):
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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.1142A>G (p.Asn381Ser) rs1565216037
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.969T>A (p.Tyr323Ter) rs565224393

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