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Gene: CYP11B2 & Disease: Corticosterone Methyloxidase Deficiency, 153 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
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
1454609	CYP11B2	c.240-2A>G	--	NM_000498.3 M	SNV	P	3 +	4
853826	CYP11B2	c.953C>T	p.Thr318Met (p.T318M)	NM_000498.3 M	SNV	P	3 +	4
847988	CYP11B2	c.139_148del	p.Gly46_Asn47insTer	NM_000498.3 M	Del	P	2 +	3
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
909422	CYP11B2	c.1343G>A	p.Arg448His (p.R448H)	NM_000498.3 M	SNV	LP	4 +	2
1142981	CYP11B2	c.237C>T	p.Phe79= (p.F79=)	NM_000498.3 M	SNV	LB	3 +	2
792801	CYP11B2	c.843C>T	p.Asn281= (p.N281=)	NM_000498.3 M	SNV	LB	3 +	2
727309	CYP11B2	c.414C>T	p.Arg138= (p.R138=)	NM_000498.3 M	SNV	LB	3 +	2
16878	CYP11B2	c.104_109delinsG	p.Val35fs (p.V35fs)	NM_000498.3 M	Indel	P	2 +	2
1104480	CYP11B2	c.1201-8G>A	--	NM_000498.3 M	SNV	LB	3 +	2

153 Results, 20 per Page

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