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Gene: C1QBP & Disease: COXPD33, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
441242	C1QBP	c.612C>G	p.Phe204Leu (p.F204L)	NM_001212.4 M	SNV	P	1 +	3
441246	C1QBP	c.562_564del	p.Tyr188Del (p.Y188del)	NM_001212.4 M	Del	P	1 +	2
441244	C1QBP	c.739G>T	p.Gly247Trp (p.G247W)	NM_001212.4 M	SNV	P	1 +	1
441245	C1QBP	c.823C>T	p.Leu275Phe (p.L275F)	NM_001212.4 M	SNV	P	1 +	1
441243	C1QBP	c.824T>C	p.Leu275Pro (p.L275P)	NM_001212.4 M	SNV	P	1 +	1
441241	C1QBP	c.557G>C	p.Cys186Ser (p.C186S)	NM_001212.4 M	SNV	P	1 +	1

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