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Mutation Direct

Effortless mutation search and display tool

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Gene: LMX1B & Disease: FSGS10, 105 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
498798	LMX1B	c.737G>A	p.Arg246Gln (p.R246Q)	NM_001174147.2 M	SNV	P	3 +	8
	LMX1B	c.737G>A	p.Arg246Gln (p.R246Q)	NM_001174146.2	SNV	P	3 +	8
	LMX1B	c.737G>A	p.Arg246Gln (p.R246Q)	NM_002316.4	SNV	P	3 +	8
741388	LMX1B	c.723G>T	p.Ser241= (p.S241=)	NM_001174147.2 M	SNV	LB	2 +	2
1495112	LMX1B	c.559G>A	p.Val187Met (p.V187M)	NM_001174147.2 M	SNV	VUS	2 +	2
747613	LMX1B	c.1059C>T	p.Asp353= (p.D353=)	NM_001174147.2 M	SNV	LB	2 +	2
1099883	LMX1B	c.549G>A	p.Glu183= (p.E183=)	NM_001174147.2 M	SNV	LB	2 +	2
1665286	LMX1B	c.1052-19C>T	--	NM_001174147.2 M	SNV	LB	2 +	2
1011992	LMX1B	c.463G>A	p.Glu155Lys (p.E155K)	NM_001174147.2 M	SNV	VUS	2 +	2
913733	LMX1B	c.1200C>T	p.Phe400= (p.F400=)	NM_001174147.2 M	SNV	LB	2 +	2
364879	LMX1B	c.552C>T	p.Ser184= (p.S184=)	NM_001174147.2 M	SNV	LB	3 +	2
1167806	LMX1B	c.870C>A	p.Ser290= (p.S290=)	NM_001174147.2 M	SNV	LB	2 +	2
258621	LMX1B	c.139+19C>T	--	NM_001174147.2 M	SNV	LB	2 +	2
258622	LMX1B	c.326+7G>C	--	NM_001174147.2 M	SNV	B	2 +	2
258624	LMX1B	c.432C>T	p.Cys144= (p.C144=)	NM_001174147.2 M	SNV	LB	3 +	2
258625	LMX1B	c.441A>G	p.Glu147= (p.E147=)	NM_001174147.2 M	SNV	B	2 +	2
258626	LMX1B	c.546C>T	p.Asp182= (p.D182=)	NM_001174147.2 M	SNV	LB	2 +	2
258629	LMX1B	c.726G>C	p.Ser242= (p.S242=)	NM_001174147.2 M	SNV	B	2 +	2
914083	LMX1B	c.140-4A>G	--	NM_001174147.2 M	SNV	LB	2 +	2
1522456	LMX1B	c.237G>T	p.Glu79Asp (p.E79D)	NM_001174147.2 M	SNV	VUS	2 +	2

105 Results, 20 per Page

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