ClinVar Miner

List of variants studied for Combined oxidative phosphorylation defect type 27 by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_024537.4(CARS2):c.628G>A (p.Val210Met) rs142962763 0.00013
NM_024537.4(CARS2):c.1505T>C (p.Leu502Pro) rs763717023 0.00006

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