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Gene: SLC6A6 & Disease: Retinal Degeneration, 5 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
870335	SLC6A6	c.233C>A	p.Ala78Glu (p.A78E)	NM_003043.6 M	SNV	P	2 +	1
870334	SLC6A6	c.1196G>T	p.Gly399Val (p.G399V)	NM_003043.6 M	SNV	P	2 +	1
870335	SLC6A6	c.536C>A	p.Ala179Glu (p.A179E)	NM_001134367.3	SNV	P	2 +	1
870335	SLC6A6	c.233C>A	p.Ala78Glu (p.A78E)	NM_001134368.4	SNV	P	2 +	1
870334	SLC6A6	c.1499G>T	p.Gly500Val (p.G500V)	NM_001134367.3	SNV	P	2 +	1

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