ClinVar Miner

List of variants studied for combined oxidative phosphorylation defect type 24 by OMIM

Included ClinVar conditions (2):
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Total variants: 11
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HGVS dbSNP gnomAD frequency
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
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.594+1G>A rs1035101172
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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