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Gene: MFRP & Disease: NNO2, 13 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
4476	MFRP	c.498del	p.Asn167fs (p.N167fs)	NM_031433.4 M	Del	P	2 +	9
4474	MFRP	c.1150dup	p.His384fs (p.H384fs)	NM_031433.4 M	Dup	P	2 +	4
183046	MFRP	c.491_492insT	p.Asn167fs (p.N167fs)	NM_031433.4 M	Ins	P	2 +	4
560469	MFRP	c.1615C>T	p.Arg539Cys (p.R539C)	NM_031433.4 M	SNV	P	3 +	4
1069330	MFRP	c.666del	p.Thr223fs (p.T223fs)	NM_031433.4 M	Del	P	2 +	3
4475	MFRP	c.523C>T	p.Gln175Ter (p.Q175X)	NM_031433.4 M	SNV	P	2 +	3
1071727	MFRP	c.1090_1091del	p.Thr364fs (p.T364fs)	NM_031433.4 M	Del	P	2 +	3
197357	MFRP	c.355A>G	p.Ile119Val (p.I119V)	NM_031433.4 M	SNV	LB	4 +	2
4477	MFRP	c.545T>C	p.Ile182Thr (p.I182T)	NM_031433.4 M	SNV	P	1 +	1
861498	MFRP	c.1345G>A	p.Gly449Ser (p.G449S)	NM_031433.4 M	SNV	VUS	2 +	1
915449	MFRP	c.1180G>A	p.Val394Met (p.V394M)	NM_031433.4 M	SNV	P	1 +	1
915451	MFRP	c.899-3C>A	--	NM_031433.4 M	SNV	P	1 +	1
915447	MFRP	c.497C>T	p.Pro166Leu (p.P166L)	NM_031433.4 M	SNV	P	2 +	1

13 Results, 20 per Page

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