ClinVar Miner

List of variants reported as uncertain significance for combined oxidative phosphorylation deficiency by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (81):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_006567.5(FARS2):c.550G>A (p.Asp184Asn) rs554931092 0.00019
NM_024537.4(CARS2):c.628G>A (p.Val210Met) rs142962763 0.00013
NM_024537.4(CARS2):c.1505T>C (p.Leu502Pro) rs763717023 0.00006
NM_012123.4(MTO1):c.1129+209C>T
NM_018127.7(ELAC2):c.155C>G (p.Ser52Cys) rs9895963

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