ClinVar Miner

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

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_003321.5(TUFM):c.-55T>C rs7187776 0.41063
NM_003321.5(TUFM):c.817+13T>C rs4788099 0.34806
NM_003321.5(TUFM):c.*300T>G rs3088215 0.34801
NM_003321.5(TUFM):c.198C>T (p.Ile66=) rs11542257 0.02831
NM_003321.5(TUFM):c.*24C>T rs8754 0.02648

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