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Gene: GABBR1 & Disease: NEDLC, 16 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1804147	GABBR1	c.1190C>T	p.Ala397Val (p.A397V)	NM_001470.4 M	SNV	P	1 +	1
1804152	GABBR1	c.1603G>A	p.Ala535Thr (p.A535T)	NM_001470.4 M	SNV	P	1 +	1
1804153	GABBR1	c.1104G>C	p.Glu368Asp (p.E368D)	NM_001470.4 M	SNV	P	1 +	1
1804154	GABBR1	c.2018G>A	p.Gly673Asp (p.G673D)	NM_001470.4 M	SNV	P	1 +	1
1804147	GABBR1	c.659C>T	p.Ala220Val (p.A220V)	NM_001319053.2	SNV	P	1 +	1
	GABBR1	c.839C>T	p.Ala280Val (p.A280V)	NM_021903.3	SNV	P	1 +	1
	GABBR1	c.1004C>T	p.Ala335Val (p.A335V)	NM_021904.4	SNV	P	1 +	1
1804152	GABBR1	c.1072G>A	p.Ala358Thr (p.A358T)	NM_001319053.2	SNV	P	1 +	1
	GABBR1	c.1252G>A	p.Ala418Thr (p.A418T)	NM_021903.3	SNV	P	1 +	1
	GABBR1	c.1417G>A	p.Ala473Thr (p.A473T)	NM_021904.4	SNV	P	1 +	1
1804153	GABBR1	c.573G>C	p.Glu191Asp (p.E191D)	NM_001319053.2	SNV	P	1 +	1
	GABBR1	c.753G>C	p.Glu251Asp (p.E251D)	NM_021903.3	SNV	P	1 +	1
	GABBR1	c.918G>C	p.Glu306Asp (p.E306D)	NM_021904.4	SNV	P	1 +	1
1804154	GABBR1	c.1487G>A	p.Gly496Asp (p.G496D)	NM_001319053.2	SNV	P	1 +	1
	GABBR1	c.1667G>A	p.Gly556Asp (p.G556D)	NM_021903.3	SNV	P	1 +	1
	GABBR1	c.1832G>A	p.Gly611Asp (p.G611D)	NM_021904.4	SNV	P	1 +	1

16 Results, 20 per Page

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