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Gene: SEMA3E & Disease: HH7, 109 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1010114	SEMA3E	c.1500+5G>A	--	NM_012431.3 M	SNV	VUS	2 +	2
1417891	SEMA3E	c.999-10T>C	--	NM_012431.3 M	SNV	LB	2 +	2
1414642	SEMA3E	c.659G>A	p.Arg220His (p.R220H)	NM_012431.3 M	SNV	VUS	2 +	2
1010114	SEMA3E	c.1320+5G>A	--	NM_001178129.2	SNV	VUS	2 +	2
1417891	SEMA3E	c.819-10T>C	--	NM_001178129.2	SNV	LB	2 +	2
1414642	SEMA3E	c.479G>A	p.Arg160His (p.R160H)	NM_001178129.2	SNV	VUS	2 +	2
641084	SEMA3E	c.1043G>A	p.Ser348Asn (p.S348N)	NM_012431.3 M	SNV	VUS	2 +	0
577680	SEMA3E	c.1909C>G	p.Leu637Val (p.L637V)	NM_012431.3 M	SNV	VUS	2 +	0
700561	SEMA3E	c.1435C>T	p.Leu479= (p.L479=)	NM_012431.3 M	SNV	LB	2 +	0
1386686	SEMA3E	c.233T>C	p.Val78Ala (p.V78A)	NM_012431.3 M	SNV	VUS	2 +	0
1415402	SEMA3E	c.266G>A	p.Gly89Asp (p.G89D)	NM_012431.3 M	SNV	LB	2 +	0
1061205	SEMA3E	c.2279G>A	p.Arg760His (p.R760H)	NM_012431.3 M	SNV	VUS	2 +	0
1614238	SEMA3E	c.2151C>T	p.Ile717= (p.I717=)	NM_012431.3 M	SNV	LB	2 +	0
698850	SEMA3E	c.765A>C	p.Ala255= (p.A255=)	NM_012431.3 M	SNV	LB	2 +	0
1546753	SEMA3E	c.1732G>A	p.Val578Ile (p.V578I)	NM_012431.3 M	SNV	LB	2 +	0
1393173	SEMA3E	c.2054A>G	p.Asp685Gly (p.D685G)	NM_012431.3 M	SNV	VUS	2 +	0
1063448	SEMA3E	c.355G>C	p.Val119Leu (p.V119L)	NM_012431.3 M	SNV	VUS	2 +	0
836153	SEMA3E	c.320T>A	p.Met107Lys (p.M107K)	NM_012431.3 M	SNV	VUS	2 +	0
653968	SEMA3E	c.1049G>A	p.Arg350Gln (p.R350Q)	NM_012431.3 M	SNV	VUS	2 +	0
1084086	SEMA3E	c.15G>A	p.Gly5= (p.G5=)	NM_012431.3 M	SNV	LB	2 +	0

109 Results, 20 per Page

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