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Mutation Direct

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Gene: SLC5A7 & Disease: HMND7, 1352 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
39495	SLC5A7	c.1497del	p.Lys499fs (p.K499fs)	NM_021815.5 M	Del	P	3 +	3
	SLC5A7	c.1497del	p.Lys499fs (p.K499fs)	NM_001305005.3	Del	P	3 +	3
	SLC5A7	c.1182del	p.Lys394fs (p.K394fs)	NM_001305006.3	Del	P	3 +	3
	SLC5A7	c.756del	p.Lys252fs (p.K252fs)	NM_001305007.3	Del	P	3 +	3
782193	SLC5A7	c.1529A>C	p.Lys510Thr (p.K510T)	NM_021815.5 M	SNV	LB	3 +	2
532815	SLC5A7	c.119A>C	p.Glu40Ala (p.E40A)	NM_021815.5 M	SNV	VUS	3 +	2
854671	SLC5A7	c.1642C>T	p.Arg548Ter (p.R548X)	NM_021815.5 M	SNV	VUS	3 +	2
532814	SLC5A7	c.1643G>A	p.Arg548Gln (p.R548Q)	NM_021815.5 M	SNV	LB	3 +	2
945469	SLC5A7	c.1496A>C	p.Lys499Thr (p.K499T)	NM_021815.5 M	SNV	LB	3 +	2
1369004	SLC5A7	c.1487A>G	p.Tyr496Cys (p.Y496C)	NM_021815.5 M	SNV	VUS	3 +	2
532813	SLC5A7	c.1453G>A	p.Val485Ile (p.V485I)	NM_021815.5 M	SNV	VUS	3 +	2
703759	SLC5A7	c.1440A>G	p.Lys480= (p.K480=)	NM_021815.5 M	SNV	LB	3 +	2
440281	SLC5A7	c.1306G>A	p.Val436Met (p.V436M)	NM_021815.5 M	SNV	LB	3 +	2
703049	SLC5A7	c.1299T>C	p.Tyr433= (p.Y433=)	NM_021815.5 M	SNV	LB	3 +	2
532824	SLC5A7	c.1237G>A	p.Val413Ile (p.V413I)	NM_021815.5 M	SNV	LB	3 +	2
945820	SLC5A7	c.1145G>A	p.Arg382Gln (p.R382Q)	NM_021815.5 M	SNV	VUS	3 +	2
1023988	SLC5A7	c.1122C>A	p.Asp374Glu (p.D374E)	NM_021815.5 M	SNV	VUS	3 +	2
566138	SLC5A7	c.1113+6A>G	--	NM_021815.5 M	SNV	VUS	3 +	2
705592	SLC5A7	c.1113+9A>G	--	NM_021815.5 M	SNV	LB	3 +	2
532821	SLC5A7	c.826C>T	p.Leu276= (p.L276=)	NM_021815.5 M	SNV	LB	3 +	2

1352 Results, 20 per Page

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