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Gene: CYP11B2 & Disease: CMO-2 DEFICIENCY, 187 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
16880	CYP11B2	c.763G>T	p.Glu255Ter (p.E255X)	NM_000498.3 M	SNV	P	3 +	7
16881	CYP11B2	c.554C>T	p.Thr185Ile (p.T185I)	NM_000498.3 M	SNV	P	3 +	6
834390	CYP11B2	c.1398+1G>A	--	NM_000498.3 M	SNV	P	3 +	6
242772	CYP11B2	c.1157T>C	p.Val386Ala (p.V386A)	NM_000498.3 M	SNV	LB	4 +	6
242773	CYP11B2	c.541C>T	p.Arg181Trp (p.R181W)	NM_000498.3 M	SNV	LP	1 +	6
242702	CYP11B2	c.594A>C	p.Glu198Asp (p.E198D)	NM_000498.3 M	SNV	P	3 +	5
655196	CYP11B2	c.1200+1G>A	--	NM_000498.3 M	SNV	P	3 +	5
1073636	CYP11B2	c.421C>T	p.Arg141Ter (p.R141X)	NM_000498.3 M	SNV	P	1 +	4
1454609	CYP11B2	c.240-2A>G	--	NM_000498.3 M	SNV	P	3 +	4
971333	CYP11B2	c.395+1G>A	--	NM_000498.3 M	SNV	LP	1 +	4
1065996	CYP11B2	c.395+1_395+2del	--	NM_000498.3 M	Del	LP	1 +	4
1494402	CYP11B2	c.517AAG[2]	p.Lys175Del (p.K175del)	NM_000498.3 M	MS	LP	1 +	4
1494402	CYP11B2	c.523_525del	--	NM_000498.3 M	MS	LP	1 +	4
835110	CYP11B2	c.240-1G>A	--	NM_000498.3 M	SNV	P	1 +	4
853826	CYP11B2	c.953C>T	p.Thr318Met (p.T318M)	NM_000498.3 M	SNV	P	3 +	4
362192	CYP11B2	c.1303G>A	p.Gly435Ser (p.G435S)	NM_000498.3 M	SNV	B	4 +	3
362195	CYP11B2	c.1120C>A	p.Arg374= (p.R374=)	NM_000498.3 M	SNV	B	4 +	3
362221	CYP11B2	c.504C>T	p.Phe168= (p.F168=)	NM_000498.3 M	SNV	B	4 +	3
362220	CYP11B2	c.518A>G	p.Lys173Arg (p.K173R)	NM_000498.3 M	SNV	B	4 +	3
1382371	CYP11B2	c.682G>T	p.Glu228Ter (p.E228X)	NM_000498.3 M	SNV	P	3 +	3

187 Results, 20 per Page

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