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Gene: ETV6 & Disease: Thrombocytopenia, 13 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
162221	ETV6	c.1106G>A	p.Arg369Gln (p.R369Q)	NM_001987.5 M	SNV	P	3 +	13
162220	ETV6	c.1195C>T	p.Arg399Cys (p.R399C)	NM_001987.5 M	SNV	P	3 +	12
626971	ETV6	c.1105C>T	p.Arg369Trp (p.R369W)	NM_001987.5 M	SNV	LP	2 +	6
162222	ETV6	c.641C>T	p.Pro214Leu (p.P214L)	NM_001987.5 M	SNV	P	4 +	6
627198	ETV6	c.1043T>C	p.Leu348Ser (p.L348S)	NM_001987.5 M	SNV	VUS	1 +	1
988827	ETV6	c.1288C>T	p.Arg430Ter (p.R430X)	NM_001987.5 M	SNV	P	1 +	1
988846	ETV6	c.313C>T	p.Arg105Ter (p.R105X)	NM_001987.5 M	SNV	LP	1 +	1
190241	ETV6	c.1046T>C	p.Leu349Pro (p.L349P)	NM_001987.5 M	SNV	P	2 +	1
626985	ETV6	c.1251C>G	p.Phe417Leu (p.F417L)	NM_001987.5 M	SNV	VUS	1 +	1
627498	ETV6	c.464-50_1009+50del	--	NM_001987.5 M	Del	VUS	1 +	1
812967	ETV6	c.1201T>C	p.Tyr401His (p.Y401H)	NM_001987.5 M	SNV	LP	1 +	1
627138	ETV6	c.791G>A	p.Arg264His (p.R264H)	NM_001987.5 M	SNV	VUS	1 +	1
190240	ETV6	c.1010-5011_1010-5007del	--	NM_001413917.1	MS	P	2 +	1

13 Results, 20 per Page

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