ClinVar Miner

List of variants reported as likely benign for Mitochondrial complex 4 deficiency, nuclear type 4

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004589.4(SCO1):c.702C>T (p.Val234=) rs199687831 0.00015
NM_004589.4(SCO1):c.753C>T (p.Asp251=) rs151112594 0.00015
NM_004589.4(SCO1):c.744C>T (p.Gly248=) rs768270136 0.00002
NM_004589.4(SCO1):c.656-20C>G rs375940362

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