ClinVar Miner

List of variants studied for combined oxidative phosphorylation defect type 24 by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_024678.6(NARS2):c.595-1G>A rs2496830227
NM_024678.6(NARS2):c.822+6703_959+1726del
NM_024678.6(NARS2):c.959+1505T>G rs2496352818

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