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Gene: IL2RA & Disease: IMD41, 771 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1948192	IL2RA	c.655+1G>A	--	NM_000417.3 M	SNV	LP	1 +	3
1508767	IL2RA	c.583+2T>C	--	NM_000417.3 M	SNV	LP	1 +	3
1948192	IL2RA	c.368-370G>A	--	NM_001308243.2	SNV	LP	1 +	3
1948192	IL2RA	c.439+1G>A	--	NM_001308242.2	SNV	LP	1 +	3
1508767	IL2RA	c.368-1977T>C	--	NM_001308243.2	SNV	LP	1 +	3
1508767	IL2RA	c.368-1535T>C	--	NM_001308242.2	SNV	LP	1 +	3
2096651	IL2RA	c.257-3T>C	--	NM_000417.3 M	SNV	VUS	1 +	2
878604	IL2RA	c.655+4C>T	--	NM_000417.3 M	SNV	VUS	2 +	2
1021454	IL2RA	c.125A>G	p.Lys42Arg (p.K42R)	NM_000417.3 M	SNV	VUS	2 +	2
2115607	IL2RA	c.256+4A>C	--	NM_000417.3 M	SNV	VUS	1 +	2
642134	IL2RA	c.484G>A	p.Gly162Ser (p.G162S)	NM_000417.3 M	SNV	VUS	1 +	2
950359	IL2RA	c.499G>A	p.Val167Ile (p.V167I)	NM_000417.3 M	SNV	VUS	2 +	2
2030202	IL2RA	c.227G>A	p.Trp76Ter (p.W76X)	NM_000417.3 M	SNV	P	1 +	2
1505408	IL2RA	c.728-3C>T	--	NM_000417.3 M	SNV	VUS	1 +	2
657558	IL2RA	c.246C>A	p.Cys82Ter (p.C82X)	NM_000417.3 M	SNV	P	1 +	2
1164972	IL2RA	c.368-18A>G	--	NM_000417.3 M	SNV	B	1 +	2
649910	IL2RA	c.256+5_256+13del	--	NM_000417.3 M	Del	VUS	1 +	2
300249	IL2RA	c.787C>T	p.Arg263Trp (p.R263W)	NM_000417.3 M	SNV	VUS	1 +	2
300250	IL2RA	c.757G>A	p.Val253Ile (p.V253I)	NM_000417.3 M	SNV	VUS	1 +	2
300261	IL2RA	c.84G>A	p.Pro28= (p.P28=)	NM_000417.3 M	SNV	B	1 +	2

771 Results, 20 per Page

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