ClinVar Miner

List of variants studied for Combined oxidative phosphorylation deficiency 44 by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001136193.2(FASTKD2):c.1072C>T (p.Arg358Ter) rs994917847 0.00001
NM_001136193.2(FASTKD2):c.*3673G>A rs956286568

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