ClinVar Miner

List of variants studied for combined oxidative phosphorylation deficiency 53

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_153689.6(C2orf69):c.187_191dup (p.Asp64fs)
NM_153689.6(C2orf69):c.280del (p.Glu94fs) rs2106636277
NM_153689.6(C2orf69):c.298del (p.Gln100fs) rs2077262520
NM_153689.6(C2orf69):c.311_313del (p.Leu104_Tyr105delinsHis) rs2106636278
NM_153689.6(C2orf69):c.439A>T (p.Ile147Phe)
NM_153689.6(C2orf69):c.588_592del (p.Asn196fs)
NM_153689.6(C2orf69):c.843_847del (p.Lys282fs) rs2106636543
NM_153689.6(C2orf69):c.909_925del (p.Ser304fs) rs2106636544
NM_153689.6(C2orf69):c.929G>A (p.Trp310Ter) rs2106636545

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