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Gene: GAD1 & Disease: NEDSWMA, 215 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2129735	GAD1	c.548-2A>C	--	NM_000817.3 M	SNV	LP	1 +	3
5060	GAD1	c.35C>G	p.Ser12Cys (p.S12C)	NM_000817.3 M	SNV	VUS	1 +	3
2129735	GAD1	c.548-2A>C	--	NM_013445.4	SNV	LP	1 +	3
5060	GAD1	c.35C>G	p.Ser12Cys (p.S12C)	NM_013445.4	SNV	VUS	1 +	3
2006137	GAD1	c.1263+6T>A	--	NM_000817.3 M	SNV	VUS	1 +	2
893182	GAD1	c.1184+6G>A	--	NM_000817.3 M	SNV	VUS	1 +	2
565722	GAD1	c.865C>T	p.Gln289Ter (p.Q289X)	NM_000817.3 M	SNV	P	1 +	2
1915215	GAD1	c.1003-20A>G	--	NM_000817.3 M	SNV	LB	1 +	1
332234	GAD1	c.1002+12G>A	--	NM_000817.3 M	SNV	B	1 +	1
1585311	GAD1	c.213A>G	p.Gln71= (p.Q71=)	NM_000817.3 M	SNV	LB	1 +	1
2171122	GAD1	c.1569G>A	p.Arg523= (p.R523=)	NM_000817.3 M	SNV	LB	1 +	1
560641	GAD1	c.80C>A	p.Thr27Lys (p.T27K)	NM_000817.3 M	SNV	LB	2 +	1
332237	GAD1	c.1252G>T	p.Val418Phe (p.V418F)	NM_000817.3 M	SNV	LB	2 +	1
1585311	GAD1	c.213A>G	p.Gln71= (p.Q71=)	NM_013445.4	SNV	LB	1 +	1
560641	GAD1	c.80C>A	p.Thr27Lys (p.T27K)	NM_013445.4	SNV	LB	2 +	1
332216	GAD1	c.-176G>C	--	NM_000817.3 M	SNV	VUS	1 +	0
332248	GAD1	c.*700C>T	--	NM_000817.3 M	SNV	B	1 +	0
1553901	GAD1	c.1722C>T	p.Ala574= (p.A574=)	NM_000817.3 M	SNV	LB	1 +	0
2003124	GAD1	c.1728C>A	p.Thr576= (p.T576=)	NM_000817.3 M	SNV	LB	1 +	0
1990324	GAD1	c.114A>T	p.Gly38= (p.G38=)	NM_000817.3 M	SNV	LB	1 +	0

215 Results, 20 per Page

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