ClinVar Miner

List of variants reported as pathogenic for combined oxidative phosphorylation defect type 13 by Kids Research, The Children's Hospital at Westmead

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_033109.5(PNPT1):c.1519G>T (p.Ala507Ser) rs143712760 0.00026
NM_033109.5(PNPT1):c.1818T>G (p.Val606=) rs1049082567

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