ClinVar Miner

List of variants studied for combined oxidative phosphorylation deficiency by Pediatric Department, Xiangya Hospital, Central South University

Included ClinVar conditions (83):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_032620.4(GTPBP3):c.776A>G (p.Asn259Ser) rs777934121 0.00004
NM_024996.7(GFM1):c.2167T>C (p.Cys723Arg)
NM_024996.7(GFM1):c.539del (p.Gly180fs) rs1362847020
NM_032620.4(GTPBP3):c.187C>T (p.Arg63Ter)

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