ClinVar Miner

List of variants reported as benign for combined oxidative phosphorylation defect type 4

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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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.922+29C>G rs61737565 0.34806
NM_003321.5(TUFM):c.*300T>G rs3088215 0.34801
NM_003321.5(TUFM):c.248-18G>A rs8061877 0.24423
NM_003321.5(TUFM):c.198C>T (p.Ile66=) rs11542257 0.02831
NM_003321.5(TUFM):c.*24C>T rs8754 0.02648
NM_003321.5(TUFM):c.520-8A>T rs145900455 0.00116

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