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Gene: ADA2 & Disease: VAIHS, 2137 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
120304	ADA2	c.139G>A	p.Gly47Arg (p.G47R)	NM_001282225.2 M	SNV	P	4 +	13
	ADA2	c.139G>A	p.Gly47Arg (p.G47R)	NM_001282226.2	SNV	P	4 +	13
	ADA2	c.13G>A	p.Gly5Arg (p.G5R)	NM_001282227.2	SNV	P	4 +	13
	ADA2	c.13G>A	p.Gly5Arg (p.G5R)	NM_001282228.2	SNV	P	4 +	13
	ADA2	c.-38-2249G>A	--	NM_001282229.2	SNV	P	4 +	13
120303	ADA2	c.506G>A	p.Arg169Gln (p.R169Q)	NM_001282225.2 M	SNV	P	4 +	12
120306	ADA2	c.140G>T	p.Gly47Val (p.G47V)	NM_001282225.2 M	SNV	P	3 +	12
120303	ADA2	c.506G>A	p.Arg169Gln (p.R169Q)	NM_001282226.2	SNV	P	4 +	12
	ADA2	c.380G>A	p.Arg127Gln (p.R127Q)	NM_001282227.2	SNV	P	4 +	12
	ADA2	c.380G>A	p.Arg127Gln (p.R127Q)	NM_001282228.2	SNV	P	4 +	12
	ADA2	c.146G>A	p.Arg49Gln (p.R49Q)	NM_001282229.2	SNV	P	4 +	12
120306	ADA2	c.140G>T	p.Gly47Val (p.G47V)	NM_001282226.2	SNV	P	3 +	12
	ADA2	c.14G>T	p.Gly5Val (p.G5V)	NM_001282227.2	SNV	P	3 +	12
	ADA2	c.14G>T	p.Gly5Val (p.G5V)	NM_001282228.2	SNV	P	3 +	12
	ADA2	c.-38-2248G>T	--	NM_001282229.2	SNV	P	3 +	12
541735	ADA2	c.973-2A>G	--	NM_001282225.2 M	SNV	P	3 +	10
	ADA2	c.847-2A>G	--	NM_001282227.2	SNV	P	3 +	10
	ADA2	c.613-2A>G	--	NM_001282229.2	SNV	P	3 +	10
	ADA2	c.847-2A>G	--	NM_001282228.2	SNV	P	3 +	10
	ADA2	c.973-2A>G	--	NM_001282226.2	SNV	P	3 +	10

2137 Results, 20 per Page

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