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Effortless mutation search and display tool

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Gene: BCL11A & Disease: Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome, 5 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
	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

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