ClinVar Miner

List of variants reported as uncertain significance for combined oxidative phosphorylation defect type 24 by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (2):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_024678.6(NARS2):c.167A>G (p.Gln56Arg)	rs201751992	0.00005
NM_024678.6(NARS2):c.1291T>C (p.Tyr431His)	rs370150532	0.00004

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