ClinVar Miner

List of variants studied for combined oxidative phosphorylation deficiency 33 by OMIM

Included ClinVar conditions (1):
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Total variants: 6
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HGVS dbSNP
NM_001212.4(C1QBP):c.557G>C (p.Cys186Ser) rs748497469
NM_001212.4(C1QBP):c.562_564del (p.Tyr188del) rs755568057
NM_001212.4(C1QBP):c.612C>G (p.Phe204Leu) rs767427194
NM_001212.4(C1QBP):c.739G>T (p.Gly247Trp) rs1394499137
NM_001212.4(C1QBP):c.823C>T (p.Leu275Phe) rs1555532484
NM_001212.4(C1QBP):c.824T>C (p.Leu275Pro) rs1555532483

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