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Gene: ERCC2 & Disease: XPD, 194 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
329508	ERCC2	c.1847G>C	p.Arg616Pro (p.R616P)	NM_000400.4 M	SNV	P	4 +	20
16779	ERCC2	c.1381C>G	p.Leu461Val (p.L461V)	NM_000400.4 M	SNV	P	3 +	15
134102	ERCC2	c.2150C>G	p.Ala717Gly (p.A717G)	NM_000400.4 M	SNV	P	3 +	14
16793	ERCC2	c.2047C>T	p.Arg683Trp (p.R683W)	NM_000400.4 M	SNV	P	3 +	13
16788	ERCC2	c.1846C>T	p.Arg616Trp (p.R616W)	NM_000400.4 M	SNV	P	3 +	11
16792	ERCC2	c.2164C>T	p.Arg722Trp (p.R722W)	NM_000400.4 M	SNV	P	5 +	11
264679	ERCC2	c.2048G>A	p.Arg683Gln (p.R683Q)	NM_000400.4 M	SNV	P	3 +	11
402226	ERCC2	c.594+2_594+5del	--	NM_000400.4 M	Del	P	3 +	10
402226	ERCC2	c.522+2_522+5del	--	NM_001130867.2	Del	P	3 +	10
134095	ERCC2	c.1703_1704del	p.Phe568fs (p.F568fs)	NM_000400.4 M	Del	P	5 +	7
16785	ERCC2	c.1972C>T	p.Arg658Cys (p.R658C)	NM_000400.4 M	SNV	P	4 +	6
631814	ERCC2	c.816-2A>G	--	NM_000400.4 M	SNV	P	1 +	6
329529	ERCC2	c.183+2T>A	--	NM_000400.4 M	SNV	P	1 +	6
1322829	ERCC2	c.591_594del	p.Arg196_Tyr197insTer	NM_000400.4 M	Del	P	1 +	6
546846	ERCC2	c.601C>T	p.His201Tyr (p.H201Y)	NM_000400.4 M	SNV	LB	2 +	6
631814	ERCC2	c.744-2A>G	--	NM_001130867.2	SNV	P	1 +	6
329529	ERCC2	c.111+2T>A	--	NM_001130867.2	SNV	P	1 +	6
1322829	ERCC2	c.519_522del	p.Arg172_Tyr173insTer	NM_001130867.2	Del	P	1 +	6
546846	ERCC2	c.529C>T	p.His177Tyr (p.H177Y)	NM_001130867.2	SNV	LB	2 +	6
16781	ERCC2	c.2173G>C	p.Ala725Pro (p.A725P)	NM_000400.4 M	SNV	P	4 +	5

194 Results, 20 per Page

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