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Gene: SLC12A5 & Disease: DEE34, 1431 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2417183	SLC12A5	c.3110+1G>A	--	NM_020708.5 M	SNV	LP	1 +	3
2093602	SLC12A5	c.147+1G>A	--	NM_020708.5 M	SNV	LP	1 +	3
857040	SLC12A5	c.53-2A>G	--	NM_020708.5 M	SNV	LP	1 +	3
2032760	SLC12A5	c.53-2A>C	--	NM_020708.5 M	SNV	LP	1 +	3
218377	SLC12A5	c.2855G>A	p.Arg952His (p.R952H)	NM_020708.5 M	SNV	B	2 +	3
2072064	SLC12A5	c.854+1G>A	--	NM_020708.5 M	SNV	LP	1 +	3
1476182	SLC12A5	c.2012+1G>T	--	NM_020708.5 M	SNV	LP	1 +	3
2417183	SLC12A5	c.3179+1G>A	--	NM_001134771.2	SNV	LP	1 +	3
2093602	SLC12A5	c.216+1G>A	--	NM_001134771.2	SNV	LP	1 +	3
857040	SLC12A5	c.122-2A>G	--	NM_001134771.2	SNV	LP	1 +	3
2032760	SLC12A5	c.122-2A>C	--	NM_001134771.2	SNV	LP	1 +	3
218377	SLC12A5	c.2924G>A	p.Arg975His (p.R975H)	NM_001134771.2	SNV	B	2 +	3
2072064	SLC12A5	c.923+1G>A	--	NM_001134771.2	SNV	LP	1 +	3
1476182	SLC12A5	c.2081+1G>T	--	NM_001134771.2	SNV	LP	1 +	3
1073166	SLC12A5	c.2490G>A	p.Trp830Ter (p.W830X)	NM_020708.5 M	SNV	P	1 +	2
452646	SLC12A5	c.692G>A	p.Arg231His (p.R231H)	NM_020708.5 M	SNV	VUS	2 +	2
2054215	SLC12A5	c.3159_3180del	p.Ala1053_Val1054insTer	NM_020708.5 M	Del	P	1 +	2
1001553	SLC12A5	c.2910+3G>A	--	NM_020708.5 M	SNV	VUS	1 +	2
1364059	SLC12A5	c.2301_2302del	p.His768fs (p.H768fs)	NM_020708.5 M	Del	P	1 +	2
1071231	SLC12A5	c.1492dup	p.Ala498fs (p.A498fs)	NM_020708.5 M	Dup	P	1 +	2

1431 Results, 20 per Page

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