ClinVar Miner

List of variants studied for combined oxidative phosphorylation deficiency by Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine

Included ClinVar conditions (81):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_033109.5(PNPT1):c.1528G>C (p.Ala510Pro) rs879255657 0.00001
NM_033109.5(PNPT1):c.760C>A (p.Gln254Lys) rs778100619

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