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Gene: PRPF4 & Disease: RP70, 16 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
940726	PRPF4	c.1504G>A	p.Asp502Asn (p.D502N)	NM_001244926.2 M	SNV	LB	1 +	2
1029887	PRPF4	c.654+4A>T	--	NM_001244926.2 M	SNV	VUS	1 +	2
940726	PRPF4	c.778G>A	p.Asp260Asn (p.D260N)	NM_001322266.2	SNV	LB	1 +	2
	PRPF4	c.778G>A	p.Asp260Asn (p.D260N)	NM_001322267.2	SNV	LB	1 +	2
	PRPF4	c.1507G>A	p.Asp503Asn (p.D503N)	NM_004697.5	SNV	LB	1 +	2
1029887	PRPF4	c.-112+4A>T	--	NM_001322267.2	SNV	VUS	1 +	2
	PRPF4	c.657+4A>T	--	NM_004697.5	SNV	VUS	1 +	2
	PRPF4	c.-112+4A>T	--	NM_001322266.2	SNV	VUS	1 +	2
1805324	PRPF4	c.750-11G>A	--	NM_001244926.2 M	SNV	VUS	1 +	1
143057	PRPF4	c.941C>T	p.Pro314Leu (p.P314L)	NM_001244926.2 M	SNV	P	1 +	1
1805324	PRPF4	c.13G>A	p.Val5Ile (p.V5I)	NM_001322266.2	SNV	VUS	1 +	1
	PRPF4	c.13G>A	p.Val5Ile (p.V5I)	NM_001322267.2	SNV	VUS	1 +	1
	PRPF4	c.753-11G>A	--	NM_004697.5	SNV	VUS	1 +	1
143057	PRPF4	c.215C>T	p.Pro72Leu (p.P72L)	NM_001322266.2	SNV	P	1 +	1
	PRPF4	c.215C>T	p.Pro72Leu (p.P72L)	NM_001322267.2	SNV	P	1 +	1
	PRPF4	c.944C>T	p.Pro315Leu (p.P315L)	NM_004697.5	SNV	P	1 +	1

16 Results, 20 per Page

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