Mutation Direct

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Gene: SLC6A3 & Disease: PKDYS1, 327 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
290889	SLC6A3	c.1676C>T	p.Ala559Val (p.A559V)	NM_001044.5 M	SNV	VUS	2 +	10
1207044	SLC6A3	c.1805A>G	p.Glu602Gly (p.E602G)	NM_001044.5 M	SNV	VUS	1 +	4
29685	SLC6A3	c.1269+1G>A	--	NM_001044.5 M	SNV	P	2 +	4
634445	SLC6A3	c.1067C>T	p.Thr356Met (p.T356M)	NM_001044.5 M	SNV	VUS	2 +	4
2054045	SLC6A3	c.1156G>A	p.Gly386Arg (p.G386R)	NM_001044.5 M	SNV	LP	1 +	3
2175474	SLC6A3	c.654-3C>T	--	NM_001044.5 M	SNV	VUS	1 +	2
1036965	SLC6A3	c.418G>C	p.Gly140Arg (p.G140R)	NM_001044.5 M	SNV	VUS	1 +	2
97016	SLC6A3	c.1031+1G>A	--	NM_001044.5 M	SNV	P	2 +	2
1432359	SLC6A3	c.1031+6C>T	--	NM_001044.5 M	SNV	VUS	1 +	2
1362992	SLC6A3	c.1398+4C>T	--	NM_001044.5 M	SNV	VUS	1 +	2
2194823	SLC6A3	c.286+6T>A	--	NM_001044.5 M	SNV	VUS	1 +	2
470637	SLC6A3	c.1843C>T	p.Arg615Cys (p.R615C)	NM_001044.5 M	SNV	VUS	1 +	2
538068	SLC6A3	c.1768-7_1768-6del	--	NM_001044.5 M	MS	VUS	1 +	2
1525470	SLC6A3	c.1767+2T>C	--	NM_001044.5 M	SNV	LP	1 +	2
845591	SLC6A3	c.653+5G>A	--	NM_001044.5 M	SNV	VUS	1 +	2
1357608	SLC6A3	c.1269+5G>A	--	NM_001044.5 M	SNV	VUS	1 +	2
16763	SLC6A3	c.1103T>A	p.Leu368Gln (p.L368Q)	NM_001044.5 M	SNV	P	2 +	1
16764	SLC6A3	c.1184C>T	p.Pro395Leu (p.P395L)	NM_001044.5 M	SNV	P	2 +	1
2058641	SLC6A3	c.616G>C	p.Asp206His (p.D206H)	NM_001044.5 M	SNV	VUS	1 +	1
97017	SLC6A3	c.671T>C	p.Leu224Pro (p.L224P)	NM_001044.5 M	SNV	P	2 +	1

327 Results, 20 per Page

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