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Gene: TPP1 & Disease: NCL, 32 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2643	TPP1	c.622C>T	p.Arg208Ter (p.R208X)	NM_000391.4 M	SNV	P	5 +	37
2644	TPP1	c.509-1G>C	--	NM_000391.4 M	SNV	P	3 +	15
207567	TPP1	c.229G>C	p.Gly77Arg (p.G77R)	NM_000391.4 M	SNV	P	2 +	14
68746	TPP1	c.380G>A	p.Arg127Gln (p.R127Q)	NM_000391.4 M	SNV	LP	2 +	12
68744	TPP1	c.229G>A	p.Gly77Arg (p.G77R)	NM_000391.4 M	SNV	P	2 +	9
2642	TPP1	c.1094G>A	p.Cys365Tyr (p.C365Y)	NM_000391.4 M	SNV	P	3 +	8
68738	TPP1	c.1266G>C	p.Gln422His (p.Q422H)	NM_000391.4 M	SNV	P	3 +	8
68749	TPP1	c.829G>A	p.Val277Met (p.V277M)	NM_000391.4 M	SNV	LP	2 +	8
68741	TPP1	c.1424C>T	p.Ser475Leu (p.S475L)	NM_000391.4 M	SNV	P	2 +	8
371293	TPP1	c.640C>T	p.Gln214Ter (p.Q214X)	NM_000391.4 M	SNV	P	2 +	7
207599	TPP1	c.89+5G>C	--	NM_000391.4 M	SNV	P	1 +	7
552401	TPP1	c.1076-2A>G	--	NM_000391.4 M	SNV	LP	2 +	7
661918	TPP1	c.1678_1679del	p.Leu560fs (p.L560fs)	NM_000391.4 M	MS	P	1 +	5
68748	TPP1	c.617G>A	p.Arg206His (p.R206H)	NM_000391.4 M	SNV	P	2 +	5
2154688	TPP1	c.646G>A	p.Val216Met (p.V216M)	NM_000391.4 M	SNV	LP	1 +	4
495859	TPP1	c.381-2A>G	--	NM_000391.4 M	SNV	LP	2 +	4
207574	TPP1	c.509-1G>A	--	NM_000391.4 M	SNV	P	2 +	4
552886	TPP1	c.1048C>T	p.Arg350Trp (p.R350W)	NM_000391.4 M	SNV	P	2 +	4
1696130	TPP1	c.790C>T	p.Gln264Ter (p.Q264X)	NM_000391.4 M	SNV	P	1 +	3
207564	TPP1	c.196C>T	p.Gln66Ter (p.Q66X)	NM_000391.4 M	SNV	P	1 +	3

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