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Mutation Direct

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Gene: BCL11B & Disease: Combined Immunodeficiency, 4 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
254673	BCL11B	c.1323T>G	p.Asn441Lys (p.N441K)	NM_138576.4 M	SNV	P	3 +	1
	BCL11B	c.1320T>G	p.Asn440Lys (p.N440K)	NM_001282237.2	SNV	P	3 +	1
	BCL11B	c.1107T>G	p.Asn369Lys (p.N369K)	NM_001282238.2	SNV	P	3 +	1
	BCL11B	c.1110T>G	p.Asn370Lys (p.N370K)	NM_022898.3	SNV	P	3 +	1

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