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Gene: STAT1 & Disease: Combined T and B Cell Immunodeficiency, 14 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
144006	STAT1	c.1154C>T	p.Thr385Met (p.T385M)	NM_007315.4 M	SNV	P	7 +	11
	STAT1	c.1094C>T	p.Thr365Met (p.T365M)	NM_001384880.1	SNV	P	7 +	11
	STAT1	c.1160C>T	p.Thr387Met (p.T387M)	NM_001384881.1	SNV	P	7 +	11
	STAT1	c.1148C>T	p.Thr383Met (p.T383M)	NM_001384882.1	SNV	P	7 +	11
	STAT1	c.1055C>T	p.Thr352Met (p.T352M)	NM_001384883.1	SNV	P	7 +	11
	STAT1	c.1160C>T	p.Thr387Met (p.T387M)	NM_001384884.1	SNV	P	7 +	11
	STAT1	c.995C>T	p.Thr332Met (p.T332M)	NM_001384885.1	SNV	P	7 +	11
	STAT1	c.1154C>T	p.Thr385Met (p.T385M)	NM_001384886.1	SNV	P	7 +	11
	STAT1	c.1061C>T	p.Thr354Met (p.T354M)	NM_001384887.1	SNV	P	7 +	11
	STAT1	c.1124C>T	p.Thr375Met (p.T375M)	NM_001384888.1	SNV	P	7 +	11
	STAT1	c.1154C>T	p.Thr385Met (p.T385M)	NM_001384889.1	SNV	P	7 +	11
	STAT1	c.1064C>T	p.Thr355Met (p.T355M)	NM_001384890.1	SNV	P	7 +	11
	STAT1	c.1190C>T	p.Thr397Met (p.T397M)	NM_001384891.1	SNV	P	7 +	11
	STAT1	c.1154C>T	p.Thr385Met (p.T385M)	NM_139266.3	SNV	P	7 +	11

14 Results, 20 per Page

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