ClinVar Miner

List of variants studied for combined oxidative phosphorylation deficiency by Kids Research, The Children's Hospital at Westmead

Included ClinVar conditions (79):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser) rs143712760 0.00026
NM_024996.7(GFM1):c.2011C>T (p.Arg671Cys) rs201408725 0.00006
NC_012920.1:m.8993T>G rs199476133
NM_024996.7(GFM1):c.952C>T (p.Pro318Ser) rs1722463582
NM_033109.5(PNPT1):c.1818T>G (p.Val606=) rs1049082567

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