ClinVar Miner

List of variants in gene NDUFA4 studied for mitochondrial complex deficiency

Included ClinVar conditions (92):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_002489.4(NDUFA4):c.131+1G>A
NM_002489.4(NDUFA4):c.42+1G>C rs1781236368
NM_002489.4(NDUFA4):c.42+1del

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