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Gene: IFT172 & Disease: RP71, 1532 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
97022	IFT172	c.5179T>C	p.Cys1727Arg (p.C1727R)	NM_015662.3 M	SNV	P	5 +	4
97022	IFT172	c.5113T>C	p.Cys1705Arg (p.C1705R)	NM_001410739.1	SNV	P	5 +	4
191367	IFT172	c.1525-1G>A	--	NM_015662.3 M	SNV	P	3 +	3
849763	IFT172	c.1478T>G	p.Leu493Arg (p.L493R)	NM_015662.3 M	SNV	P	4 +	3
392732	IFT172	c.915A>G	p.Thr305= (p.T305=)	NM_015662.3 M	SNV	LB	3 +	3
191367	IFT172	c.1525-67G>A	--	NM_001410739.1	SNV	P	3 +	3
1393483	IFT172	c.4311+5T>C	--	NM_015662.3 M	SNV	LB	2 +	2
1426425	IFT172	c.1692+6T>A	--	NM_015662.3 M	SNV	VUS	2 +	2
1066130	IFT172	c.910-2A>G	--	NM_015662.3 M	SNV	LP	2 +	2
1524924	IFT172	c.4815+2_4815+3del	--	NM_015662.3 M	MS	LP	2 +	2
845097	IFT172	c.2442+5G>A	--	NM_015662.3 M	SNV	VUS	2 +	2
1516850	IFT172	c.4311+1G>A	--	NM_015662.3 M	SNV	LP	2 +	2
1967442	IFT172	c.4311+4C>T	--	NM_015662.3 M	SNV	VUS	2 +	2
1500679	IFT172	c.2193+5C>T	--	NM_015662.3 M	SNV	VUS	2 +	2
2107008	IFT172	c.1412-2A>G	--	NM_015662.3 M	SNV	P	2 +	2
1025726	IFT172	c.2131G>A	p.Ala711Thr (p.A711T)	NM_015662.3 M	SNV	VUS	3 +	2
1394843	IFT172	c.4914G>A	p.Pro1638= (p.P1638=)	NM_015662.3 M	SNV	VUS	2 +	2
1010018	IFT172	c.3372-3C>T	--	NM_015662.3 M	SNV	LB	2 +	2
2017656	IFT172	c.1693-1G>A	--	NM_015662.3 M	SNV	LP	2 +	2
1378950	IFT172	c.336G>A	p.Thr112= (p.T112=)	NM_015662.3 M	SNV	VUS	2 +	2

1532 Results, 20 per Page

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