ClinVar Miner

List of variants in gene TACO1 reported as likely pathogenic for Mitochondrial complex 4 deficiency, nuclear type 8

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_016360.4(TACO1):c.255_258del (p.Leu84_Cys85insTer)

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