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Effortless mutation search and display tool

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Gene: TGFB1 & Disease: Immune Dysregulation-Inflammatory Bowel Disease-Arthritis-Recurrent Infections Syndrome, 3 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
487577	TGFB1	c.133C>T	p.Arg45Cys (p.R45C)	NM_000660.7 M	SNV	P	3 +	1
488345	TGFB1	c.328C>T	p.Arg110Cys (p.R110C)	NM_000660.7 M	SNV	P	3 +	1
488346	TGFB1	c.1159T>C	p.Cys387Arg (p.C387R)	NM_000660.7 M	SNV	P	3 +	1

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