List of variants in gene C1QBP studied for Combined oxidative phosphorylation deficiency 33

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001212.4(C1QBP):c.612C>G (p.Phe204Leu)	rs767427194	0.00003
NM_001212.4(C1QBP):c.557G>C (p.Cys186Ser)	rs748497469	0.00002
NM_001212.4(C1QBP):c.562_564del (p.Tyr188del)	rs755568057
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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