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Gene: PEX7 & Disease: RCDP1, 151 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
7780	PEX7	c.875T>A	p.Leu292Ter (p.L292X)	NM_000288.4 M	SNV	P	3 +	17
7782	PEX7	c.649G>A	p.Gly217Arg (p.G217R)	NM_000288.4 M	SNV	P	3 +	11
7785	PEX7	c.903+1G>C	--	NM_000288.4 M	SNV	P	4 +	10
7785	PEX7	c.789+1G>C	--	NM_001410945.1	SNV	P	4 +	10
7783	PEX7	c.694C>T	p.Arg232Ter (p.R232X)	NM_000288.4 M	SNV	P	3 +	8
7781	PEX7	c.653C>T	p.Ala218Val (p.A218V)	NM_000288.4 M	SNV	P	4 +	7
7786	PEX7	c.345T>G	p.Tyr115Ter (p.Y115X)	NM_000288.4 M	SNV	P	3 +	7
225436	PEX7	c.183del	p.Phe61fs (p.F61fs)	NM_000288.4 M	Del	P	2 +	5
189076	PEX7	c.618G>A	p.Trp206Ter (p.W206X)	NM_000288.4 M	SNV	P	2 +	5
370629	PEX7	c.13_19dup	p.Gly7fs (p.G7fs)	NM_000288.4 M	MS	P	3 +	5
370873	PEX7	c.748-2A>G	--	NM_000288.4 M	SNV	LP	2 +	4
813363	PEX7	c.188+1G>A	--	NM_000288.4 M	SNV	P	2 +	4
1339708	PEX7	c.376C>T	p.Gln126Ter (p.Q126X)	NM_000288.4 M	SNV	P	2 +	4
371080	PEX7	c.633+1G>A	--	NM_000288.4 M	SNV	LP	2 +	4
188975	PEX7	c.188+1G>C	--	NM_000288.4 M	SNV	P	3 +	4
639671	PEX7	c.130+1G>A	--	NM_000288.4 M	SNV	P	2 +	4
371420	PEX7	c.736_747+17del	--	NM_000288.4 M	Del	LP	2 +	4
7787	PEX7	c.340-10A>G	--	NM_000288.4 M	SNV	P	3 +	4
7788	PEX7	c.120C>G	p.Tyr40Ter (p.Y40X)	NM_000288.4 M	SNV	P	4 +	4
7784	PEX7	c.45_52dup	p.His18fs (p.H18fs)	NM_000288.4 M	Dup	P	2 +	4

151 Results, 20 per Page

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