ClinVar Miner

List of variants in gene TUFM reported as likely benign for combined oxidative phosphorylation deficiency

Included ClinVar conditions (81):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
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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