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Gene: SCNN1G & Disease: BESC3, 25 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
318359	SCNN1G	c.1589A>G	p.Asn530Ser (p.N530S)	NM_001039.4 M	SNV	P	3 +	7
8828	SCNN1G	c.547G>A	p.Gly183Ser (p.G183S)	NM_001039.4 M	SNV	P	3 +	6
165177	SCNN1G	c.1947C>G	p.Leu649= (p.L649=)	NM_001039.4 M	SNV	B	3 +	4
1185021	SCNN1G	c.1532T>A	p.Leu511Gln (p.L511Q)	NM_001039.4 M	SNV	VUS	3 +	4
165175	SCNN1G	c.1432-7G>A	--	NM_001039.4 M	SNV	B	3 +	4
8829	SCNN1G	c.589G>A	p.Glu197Lys (p.E197K)	NM_001039.4 M	SNV	P	3 +	4
787440	SCNN1G	c.1570-9G>A	--	NM_001039.4 M	SNV	LB	3 +	3
165176	SCNN1G	c.1176+14A>G	--	NM_001039.4 M	SNV	B	3 +	3
736256	SCNN1G	c.1455T>C	p.Thr485= (p.T485=)	NM_001039.4 M	SNV	LB	3 +	2
799422	SCNN1G	c.819G>C	p.Thr273= (p.T273=)	NM_001039.4 M	SNV	LB	3 +	2
285901	SCNN1G	c.699C>T	p.His233= (p.H233=)	NM_001039.4 M	SNV	LB	3 +	2
318351	SCNN1G	c.539G>A	p.Arg180Gln (p.R180Q)	NM_001039.4 M	SNV	VUS	3 +	2
1065571	SCNN1G	c.1654G>A	p.Val552Ile (p.V552I)	NM_001039.4 M	SNV	VUS	1 +	1
451433	SCNN1G	c.1550T>C	p.Met517Thr (p.M517T)	NM_001039.4 M	SNV	VUS	3 +	1
1242641	SCNN1G	c.1493+33T>G	--	NM_001039.4 M	SNV	B	3 +	1
1245056	SCNN1G	c.1373+29T>C	--	NM_001039.4 M	SNV	B	3 +	1
1034392	SCNN1G	c.1284C>T	p.His428= (p.H428=)	NM_001039.4 M	SNV	VUS	1 +	1
318355	SCNN1G	c.1187A>G	p.His396Arg (p.H396R)	NM_001039.4 M	SNV	VUS	3 +	1
1331727	SCNN1G	c.564C>A	p.His188Gln (p.H188Q)	NM_001039.4 M	SNV	VUS	1 +	1
1313539	SCNN1G	c.470G>A	p.Arg157Gln (p.R157Q)	NM_001039.4 M	SNV	VUS	3 +	1

25 Results, 20 per Page

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