ClinVar Miner

List of variants studied for combined oxidative phosphorylation defect type 24 by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_024678.6(NARS2):c.418C>T (p.Arg140Ter) rs1057524183 0.00006
NM_024678.6(NARS2):c.749G>A (p.Arg250Gln) rs150879145 0.00003

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