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Gene: SCNN1G & Disease: LIDLS2, 81 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
165174	SCNN1G	c.549C>T	p.Gly183= (p.G183=)	NM_001039.4 M	SNV	B	2 +	4
165173	SCNN1G	c.474T>C	p.Ile158= (p.I158=)	NM_001039.4 M	SNV	B	2 +	4
165172	SCNN1G	c.387T>C	p.Tyr129= (p.Y129=)	NM_001039.4 M	SNV	B	2 +	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
178805	SCNN1G	c.636C>T	p.Ser212= (p.S212=)	NM_001039.4 M	SNV	LB	2 +	3
286685	SCNN1G	c.1575G>A	p.Glu525= (p.E525=)	NM_001039.4 M	SNV	LB	2 +	2
318358	SCNN1G	c.1569+10G>A	--	NM_001039.4 M	SNV	B	2 +	2
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
318353	SCNN1G	c.776C>A	p.Thr259Asn (p.T259N)	NM_001039.4 M	SNV	B	2 +	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
886156	SCNN1G	c.1861G>A	p.Gly621Ser (p.G621S)	NM_001039.4 M	SNV	B	2 +	1

81 Results, 20 per Page

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