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Gene: FLVCR1 & Disease: RP, 7 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
374768	FLVCR1	c.1092+5G>A	--	NM_014053.4 M	SNV	P	4 +	14
1420825	FLVCR1	c.1198C>T	p.Gln400Ter (p.Q400X)	NM_014053.4 M	SNV	P	2 +	3
1297161	FLVCR1	c.1026T>C	p.Gly342= (p.G342=)	NM_014053.4 M	SNV	VUS	2 +	1
1297162	FLVCR1	c.806T>C	p.Leu269Pro (p.L269P)	NM_014053.4 M	SNV	VUS	2 +	1
916537	FLVCR1	c.730G>A	p.Gly244Ser (p.G244S)	NM_014053.4 M	SNV	LP	3 +	0
623715	FLVCR1	c.971C>A	p.Ser324Ter (p.S324X)	NM_014053.4 M	SNV	P	2 +	0
806346	FLVCR1	c.1318_1321del	p.Thr440fs (p.T440fs)	NM_014053.4 M	Del	P	2 +	0

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