ClinVar Miner

List of variants in gene NDUFAF4 reported as likely benign for mitochondrial complex deficiency

Included ClinVar conditions (92):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_014165.4(NDUFAF4):c.*350A>C rs41288598 0.04940
NM_014165.4(NDUFAF4):c.*387C>T rs41288596 0.03489
NM_014165.4(NDUFAF4):c.*639A>C rs11759571 0.03170
NM_014165.4(NDUFAF4):c.*1062T>G rs76370016 0.02302
NM_014165.4(NDUFAF4):c.*1299G>A rs73758053 0.01451
NM_014165.4(NDUFAF4):c.*1214G>A rs17057099 0.01241
NM_014165.4(NDUFAF4):c.111C>T (p.Asn37=) rs139675421 0.00064
NM_014165.4(NDUFAF4):c.241-18dup rs34213186

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