ClinVar Miner

List of variants reported as likely benign for Combined oxidative phosphorylation defect type 4 by Illumina Laboratory Services, Illumina

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_003321.5(TUFM):c.684+6C>T rs188421321 0.00419
NM_003321.5(TUFM):c.1292A>G (p.Asn431Ser) rs146326033 0.00200
NM_003321.5(TUFM):c.520-13C>G rs115691896 0.00158
NM_003321.5(TUFM):c.520-8A>T rs145900455 0.00116

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