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Gene: IREB2 & Disease: NDCAMA, 43 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1300043	IREB2	c.2616C>T	p.Ala872= (p.A872=)	NM_004136.4 M	SNV	B	1 +	2
1300042	IREB2	c.2472+12A>C	--	NM_004136.4 M	SNV	B	1 +	2
1300041	IREB2	c.1739T>C	p.Ile580Thr (p.I580T)	NM_004136.4 M	SNV	B	1 +	2
1300040	IREB2	c.883+19A>G	--	NM_004136.4 M	SNV	B	1 +	2
1300043	IREB2	c.1866C>T	p.Ala622= (p.A622=)	NM_001320941.2	SNV	B	1 +	2
	IREB2	c.2445C>T	p.Ala815= (p.A815=)	NM_001320942.2	SNV	B	1 +	2
	IREB2	c.2445C>T	p.Ala815= (p.A815=)	NM_001354994.2	SNV	B	1 +	2
1300042	IREB2	c.2301+12A>C	--	NM_001354994.2	SNV	B	1 +	2
	IREB2	c.1722+12A>C	--	NM_001320941.2	SNV	B	1 +	2
	IREB2	c.2301+12A>C	--	NM_001320942.2	SNV	B	1 +	2
1300041	IREB2	c.989T>C	p.Ile330Thr (p.I330T)	NM_001320941.2	SNV	B	1 +	2
	IREB2	c.1568T>C	p.Ile523Thr (p.I523T)	NM_001320942.2	SNV	B	1 +	2
	IREB2	c.1568T>C	p.Ile523Thr (p.I523T)	NM_001354994.2	SNV	B	1 +	2
1300040	IREB2	c.712+19A>G	--	NM_001354994.2	SNV	B	1 +	2
	IREB2	c.133+19A>G	--	NM_001320941.2	SNV	B	1 +	2
	IREB2	c.883+19A>G	--	NM_001320943.2	SNV	B	1 +	2
	IREB2	c.712+19A>G	--	NM_001320942.2	SNV	B	1 +	2
1300044	IREB2	c.2781+23T>C	--	NM_004136.4 M	SNV	B	1 +	1
694293	IREB2	c.2353G>A	p.Gly785Arg (p.G785R)	NM_004136.4 M	SNV	P	1 +	1
694294	IREB2	c.1329_1331del	p.Ser444Del (p.S444del)	NM_004136.4 M	Del	P	1 +	1

43 Results, 20 per Page

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