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Gene: CARMIL2 & Disease: Combined T and B Cell Immunodeficiency, 6 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
562177	CARMIL2	c.1590C>A	p.Asn530Lys (p.N530K)	NM_001013838.3 M	SNV	P	2 +	1
266035	CARMIL2	c.490dup	p.Ala164fs (p.A164fs)	NM_001013838.3 M	Dup	P	3 +	1
266036	CARMIL2	c.871+1G>T	--	NM_001013838.3 M	SNV	P	3 +	1
562177	CARMIL2	c.1482C>A	p.Asn494Lys (p.N494K)	NM_001317026.3	SNV	P	2 +	1
266035	CARMIL2	c.490dup	p.Ala164fs (p.A164fs)	NM_001317026.3	Dup	P	3 +	1
266036	CARMIL2	c.871+1G>T	--	NM_001317026.3	SNV	P	3 +	1

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