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Gene: FARSB & Disease: RILDBC1, 11 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
559418	FARSB	c.853G>A	p.Glu285Lys (p.E285K)	NM_005687.5 M	SNV	P	1 +	3
545664	FARSB	c.1202G>A	p.Arg401Gln (p.R401Q)	NM_005687.5 M	SNV	P	2 +	1
487455	FARSB	c.767C>T	p.Thr256Met (p.T256M)	NM_005687.5 M	SNV	P	2 +	1
545694	FARSB	c.755T>C	p.Phe252Ser (p.F252S)	NM_005687.5 M	SNV	P	2 +	1
545501	FARSB	c.848+1G>A	--	NM_005687.5 M	SNV	P	1 +	1
545502	FARSB	c.914G>A	p.Arg305Gln (p.R305Q)	NM_005687.5 M	SNV	P	1 +	1
545642	FARSB	c.1381A>C	p.Thr461Pro (p.T461P)	NM_005687.5 M	SNV	P	2 +	1
487456	FARSB	c.1486delinsAA	p.His496fs (p.H496fs)	NM_005687.5 M	Indel	P	2 +	1
1685814	FARSB	c.460A>G	p.Arg154Gly (p.R154G)	NM_005687.5 M	SNV	P	1 +	0
1685813	FARSB	c.1408del	p.Leu470fs (p.L470fs)	NM_005687.5 M	Del	P	1 +	0
1542704	FARSB	c.1618+17G>A	--	NM_005687.5 M	SNV	LB	1 +	0

11 Results, 20 per Page

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