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Gene: IL6ST & Disease: STWS1, 8 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
635407	IL6ST	c.841C>T	p.Arg281Ter (p.R281X)	NM_002184.4 M	SNV	P	2 +	1
	IL6ST	c.841C>T	p.Arg281Ter (p.R281X)	NM_001190981.2	SNV	P	2 +	1
	IL6ST	c.841C>T	p.Arg281Ter (p.R281X)	NM_001364275.2	SNV	P	2 +	1
	IL6ST	c.631C>T	p.Arg211Ter (p.R211X)	NM_001364276.2	SNV	P	2 +	1
	IL6ST	c.-73C>T	--	NM_001364277.2	SNV	P	2 +	1
	IL6ST	c.-63C>T	--	NM_001364278.2	SNV	P	2 +	1
	IL6ST	c.-73C>T	--	NM_001364279.2	SNV	P	2 +	1
	IL6ST	c.841C>T	p.Arg281Ter (p.R281X)	NM_175767.3	SNV	P	2 +	1

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