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Gene: GABRB1 & Disease: DEE45, 13 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
265863	GABRB1	c.737T>C	p.Phe246Ser (p.F246S)	NM_000812.4 M	SNV	P	1 +	2
984675	GABRB1	c.740T>C	p.Ile247Thr (p.I247T)	NM_000812.4 M	SNV	P	1 +	1
265864	GABRB1	c.860C>T	p.Thr287Ile (p.T287I)	NM_000812.4 M	SNV	P	1 +	1
1805092	GABRB1	c.1243G>C	p.Gly415Arg (p.G415R)	NM_000812.4 M	SNV	VUS	1 +	1
1034301	GABRB1	c.629A>G	p.Gln210Arg (p.Q210R)	NM_000812.4 M	SNV	VUS	1 +	0
1285290	GABRB1	c.80+24_80+25del	--	NM_000812.4 M	Del	B	1 +	0
1377544	GABRB1	c.1142C>T	p.Ser381Leu (p.S381L)	NM_000812.4 M	SNV	VUS	1 +	0
1280390	GABRB1	c.846A>G	p.Thr282= (p.T282=)	NM_000812.4 M	SNV	B	1 +	0
638346	GABRB1	c.307C>T	p.Pro103Ser (p.P103S)	NM_000812.4 M	SNV	VUS	1 +	0
1299345	GABRB1	c.757C>T	p.Pro253Ser (p.P253S)	NM_000812.4 M	SNV	LP	1 +	0
982940	GABRB1	c.854C>A	p.Thr285Lys (p.T285K)	NM_000812.4 M	SNV	LP	1 +	0
431076	GABRB1	c.157C>T	p.Arg53Trp (p.R53W)	NM_000812.4 M	SNV	LP	1 +	0
2585086	GABRB1	c.74C>G	p.Ala25Gly (p.A25G)	NM_000812.4 M	SNV	VUS	1 +	0

13 Results, 20 per Page

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