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Gene: LIAS & Disease: Lipoic Acid Synthetase Deficiency, 1453 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
379693	LIAS	c.954+1G>A	--	NM_006859.4 M	SNV	LP	2 +	3
572236	LIAS	c.737+1G>A	--	NM_006859.4 M	SNV	LP	2 +	3
1524663	LIAS	c.884-1G>A	--	NM_006859.4 M	SNV	LP	2 +	3
523916	LIAS	c.277del	p.Lys92_Leu93insTer	NM_006859.4 M	Del	P	2 +	3
523916	LIAS	c.277delC	--	NM_006859.4 M	Del	P	2 +	3
30629	LIAS	c.746G>A	p.Arg249His (p.R249H)	NM_006859.4 M	SNV	P	2 +	3
379693	LIAS	c.954+1G>A	--	NM_194451.3	SNV	LP	2 +	3
	LIAS	c.825+1G>A	--	NM_001278590.2	SNV	LP	2 +	3
	LIAS	c.645+1G>A	--	NM_001363700.2	SNV	LP	2 +	3
572236	LIAS	c.737+1G>A	--	NM_194451.3	SNV	LP	2 +	3
	LIAS	c.608+2305G>A	--	NM_001278590.2	SNV	LP	2 +	3
	LIAS	c.428+1G>A	--	NM_001363700.2	SNV	LP	2 +	3
1524663	LIAS	c.884-1G>A	--	NM_194451.3	SNV	LP	2 +	3
	LIAS	c.755-1G>A	--	NM_001278590.2	SNV	LP	2 +	3
	LIAS	c.575-1G>A	--	NM_001363700.2	SNV	LP	2 +	3
523916	LIAS	c.277del	p.Lys92_Leu93insTer	NM_001278591.2	Del	P	2 +	3
	LIAS	c.277del	p.Lys92_Leu93insTer	NM_194451.3	Del	P	2 +	3
	LIAS	c.219-1271del	--	NM_001363700.2	Del	P	2 +	3
	LIAS	c.219-1271del	--	NM_001278592.2	Del	P	2 +	3
	LIAS	c.277del	p.Lys92_Leu93insTer	NM_001278590.2	Del	P	2 +	3

1453 Results, 20 per Page

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