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Gene: MFRP & Disease: LORD, 93 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
631652	MFRP	c.1124+1G>T	--	NM_031433.4 M	SNV	P	3 +	6
497208	MFRP	c.642-2A>G	--	NM_031433.4 M	SNV	P	2 +	5
2126	MFRP	c.*1385C>G	--	NM_031433.4 M	SNV	P	2 +	4
197357	MFRP	c.355A>G	p.Ile119Val (p.I119V)	NM_031433.4 M	SNV	LB	4 +	2
1687105	MFRP	c.*1458C>A	--	NM_031433.4 M	SNV	P	1 +	2
302928	MFRP	c.*1237G>A	--	NM_031433.4 M	SNV	LB	3 +	2
302977	MFRP	c.192C>G	p.Arg64= (p.R64=)	NM_031433.4 M	SNV	LB	3 +	2
878728	MFRP	c.*1250G>A	--	NM_031433.4 M	SNV	LB	2 +	1
852164	MFRP	c.*1289C>A	--	NM_031433.4 M	SNV	VUS	2 +	1
302924	MFRP	c.*1540T>C	--	NM_031433.4 M	SNV	VUS	3 +	1
302925	MFRP	c.*1463C>T	--	NM_031433.4 M	SNV	LB	3 +	1
877118	MFRP	c.321C>T	p.Ala107= (p.A107=)	NM_031433.4 M	SNV	LB	2 +	1
877119	MFRP	c.309C>G	p.Ser103Arg (p.S103R)	NM_031433.4 M	SNV	VUS	2 +	1
302967	MFRP	c.705C>T	p.Phe235= (p.F235=)	NM_031433.4 M	SNV	LB	3 +	1
302968	MFRP	c.583G>A	p.Ala195Thr (p.A195T)	NM_031433.4 M	SNV	VUS	3 +	1
302970	MFRP	c.496C>G	p.Pro166Ala (p.P166A)	NM_031433.4 M	SNV	LB	3 +	1
302973	MFRP	c.335C>T	p.Thr112Met (p.T112M)	NM_031433.4 M	SNV	VUS	3 +	1
302974	MFRP	c.303C>T	p.Ser101= (p.S101=)	NM_031433.4 M	SNV	LB	3 +	1
813996	MFRP	c.*1458C>G	--	NM_031433.4 M	SNV	LP	1 +	1
813997	MFRP	c.*1457G>T	--	NM_031433.4 M	SNV	VUS	1 +	1

93 Results, 20 per Page

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