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Gene: BCL11A & Disease: CHEGDD, 10 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
632586	BCL11A	c.295del	p.Val99fs (p.V99fs)	NM_022893.4 M	Del	P	5 +	1
632585	BCL11A	c.1601_1631del	p.Val534fs (p.V534fs)	NM_022893.4 M	Del	P	2 +	1
632586	BCL11A	c.295del	p.Val99fs (p.V99fs)	NM_001363864.1	Del	P	5 +	1
	BCL11A	c.295del	p.Val99fs (p.V99fs)	NM_001365609.1	Del	P	5 +	1
	BCL11A	c.295del	p.Val99fs (p.V99fs)	NM_018014.4	Del	P	5 +	1
	BCL11A	c.295del	p.Val99fs (p.V99fs)	NM_138559.2	Del	P	5 +	1
632585	BCL11A	c.1499_1529del	p.Val500fs (p.V500fs)	NM_001363864.1	Del	P	2 +	1
	BCL11A	c.1499_1529del	p.Val500fs (p.V500fs)	NM_001365609.1	Del	P	2 +	1
	BCL11A	c.1601_1631del	p.Val534fs (p.V534fs)	NM_018014.4	Del	P	2 +	1
	BCL11A	c.630+971_630+1001del	--	NM_138559.2	Del	P	2 +	1

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