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Gene: GABRB3 & Disease: ECA5, 1582 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
16191	GABRB3	c.31C>T	p.Pro11Ser (p.P11S)	NM_021912.5	SNV	LB	3 +	6
254261	GABRB3	c.358G>A	p.Asp120Asn (p.D120N)	NM_000814.6 M	SNV	P	3 +	3
16193	GABRB3	c.94G>A	p.Gly32Arg (p.G32R)	NM_000814.6 M	SNV	VUS	2 +	3
1360589	GABRB3	c.240G>A	p.Met80Ile (p.M80I)	NM_000814.6 M	SNV	VUS	2 +	3
1975607	GABRB3	c.241-1G>A	--	NM_000814.6 M	SNV	LP	2 +	3
1460165	GABRB3	c.470C>T	p.Thr157Met (p.T157M)	NM_000814.6 M	SNV	P	2 +	3
2010195	GABRB3	c.544T>C	p.Tyr182His (p.Y182H)	NM_000814.6 M	SNV	VUS	2 +	3
1723205	GABRB3	c.580C>T	p.Arg194Ter (p.R194X)	NM_000814.6 M	SNV	P	3 +	3
1068162	GABRB3	c.761C>A	p.Ser254Tyr (p.S254Y)	NM_000814.6 M	SNV	LP	2 +	3
447364	GABRB3	c.1265C>T	p.Pro422Leu (p.P422L)	NM_000814.6 M	SNV	LB	3 +	3
254261	GABRB3	c.103G>A	p.Asp35Asn (p.D35N)	NM_001191320.2	SNV	P	3 +	3
	GABRB3	c.145G>A	p.Asp49Asn (p.D49N)	NM_001191321.3	SNV	P	3 +	3
	GABRB3	c.103G>A	p.Asp35Asn (p.D35N)	NM_001278631.2	SNV	P	3 +	3
	GABRB3	c.358G>A	p.Asp120Asn (p.D120N)	NM_021912.5	SNV	P	3 +	3
16193	GABRB3	c.-258G>A	--	NM_001278631.2	SNV	VUS	2 +	3
16193	GABRB3	c.94G>A	p.Gly32Arg (p.G32R)	NM_021912.5	SNV	VUS	2 +	3
1360589	GABRB3	c.-112G>A	--	NM_001278631.2	SNV	VUS	2 +	3
1360589	GABRB3	c.240G>A	p.Met80Ile (p.M80I)	NM_021912.5	SNV	VUS	2 +	3
1975607	GABRB3	c.241-1G>A	--	NM_021912.5	SNV	LP	2 +	3
1975607	GABRB3	c.-15-1G>A	--	NM_001278631.2	SNV	LP	2 +	3

1582 Results, 20 per Page

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