ClinVar Miner

List of variants studied for Combined oxidative phosphorylation defect type 27 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_024537.4(CARS2):c.655G>A (p.Ala219Thr)	rs727505361	0.00001
NM_024537.4(CARS2):c.112C>T (p.Arg38Cys)	rs776199362

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