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Gene: SCNN1A & Disease: BESC2, 278 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
9269	SCNN1A	c.1477T>C	p.Trp493Arg (p.W493R)	NM_001038.6 M	SNV	P	2 +	5
	SCNN1A	c.1546T>C	p.Trp516Arg (p.W516R)	NM_001159575.2	SNV	P	2 +	5
	SCNN1A	c.1654T>C	p.Trp552Arg (p.W552R)	NM_001159576.2	SNV	P	2 +	5
165164	SCNN1A	c.1987A>G	p.Thr663Ala (p.T663A)	NM_001038.6 M	SNV	B	3 +	4
	SCNN1A	c.2056A>G	p.Thr686Ala (p.T686A)	NM_001159575.2	SNV	B	3 +	4
	SCNN1A	c.2164A>G	p.Thr722Ala (p.T722A)	NM_001159576.2	SNV	B	3 +	4
9264	SCNN1A	c.1522C>T	p.Arg508Ter (p.R508X)	NM_001038.6 M	SNV	P	3 +	3
194190	SCNN1A	c.1853G>T	p.Cys618Phe (p.C618F)	NM_001038.6 M	SNV	B	2 +	3
227059	SCNN1A	c.540_541delinsTT	p.Arg181Trp (p.R181W)	NM_001038.6 M	Indel	LB	3 +	3
227059	SCNN1A	c.540_541delGCinsTT	--	NM_001038.6 M	Indel	LB	3 +	3
165165	SCNN1A	c.1000G>A	p.Ala334Thr (p.A334T)	NM_001038.6 M	SNV	B	2 +	3
310153	SCNN1A	c.99C>T	p.Pro33= (p.P33=)	NM_001038.6 M	SNV	B	3 +	3
9264	SCNN1A	c.1591C>T	p.Arg531Ter (p.R531X)	NM_001159575.2	SNV	P	3 +	3
9264	SCNN1A	c.1699C>T	p.Arg567Ter (p.R567X)	NM_001159576.2	SNV	P	3 +	3
194190	SCNN1A	c.1922G>T	p.Cys641Phe (p.C641F)	NM_001159575.2	SNV	B	2 +	3
194190	SCNN1A	c.2030G>T	p.Cys677Phe (p.C677F)	NM_001159576.2	SNV	B	2 +	3
227059	SCNN1A	c.609_610delinsTT	p.Arg204Trp (p.R204W)	NM_001159575.2	Indel	LB	3 +	3
227059	SCNN1A	c.717_718delinsTT	p.Arg240Trp (p.R240W)	NM_001159576.2	Indel	LB	3 +	3
165165	SCNN1A	c.1069G>A	p.Ala357Thr (p.A357T)	NM_001159575.2	SNV	B	2 +	3
165165	SCNN1A	c.1177G>A	p.Ala393Thr (p.A393T)	NM_001159576.2	SNV	B	2 +	3

278 Results, 20 per Page

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