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Gene: ABCC6 & Disease: Pseudoxanthoma Elasticum, Forme Fruste, 512 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
6559	ABCC6	c.3421C>T	p.Arg1141Ter (p.R1141X)	NM_001171.6 M	SNV	P	4 +	12
6559	ABCC6	c.3079C>T	p.Arg1027Ter (p.R1027X)	NM_001351800.1	SNV	P	4 +	12
6560	ABCC6	c.2787+1G>T	--	NM_001171.6 M	SNV	P	3 +	11
6564	ABCC6	c.3940C>T	p.Arg1314Trp (p.R1314W)	NM_001171.6 M	SNV	P	3 +	11
6560	ABCC6	c.2445+1G>T	--	NM_001351800.1	SNV	P	3 +	11
6564	ABCC6	c.3598C>T	p.Arg1200Trp (p.R1200W)	NM_001351800.1	SNV	P	3 +	11
433308	ABCC6	c.3341G>A	p.Arg1114His (p.R1114H)	NM_001171.6 M	SNV	P	3 +	8
433308	ABCC6	c.2999G>A	p.Arg1000His (p.R1000H)	NM_001351800.1	SNV	P	3 +	8
6561	ABCC6	c.3413G>A	p.Arg1138Gln (p.R1138Q)	NM_001171.6 M	SNV	P	3 +	7
6572	ABCC6	c.3490C>T	p.Arg1164Ter (p.R1164X)	NM_001171.6 M	SNV	P	3 +	7
372295	ABCC6	c.3491G>A	p.Arg1164Gln (p.R1164Q)	NM_001171.6 M	SNV	P	3 +	7
6561	ABCC6	c.3071G>A	p.Arg1024Gln (p.R1024Q)	NM_001351800.1	SNV	P	3 +	7
6572	ABCC6	c.3148C>T	p.Arg1050Ter (p.R1050X)	NM_001351800.1	SNV	P	3 +	7
372295	ABCC6	c.3149G>A	p.Arg1050Gln (p.R1050Q)	NM_001351800.1	SNV	P	3 +	7
430158	ABCC6	c.1256G>A	p.Arg419Gln (p.R419Q)	NM_001171.6 M	SNV	P	3 +	6
30339	ABCC6	c.1552C>T	p.Arg518Ter (p.R518X)	NM_001171.6 M	SNV	P	3 +	6
433307	ABCC6	c.3340C>T	p.Arg1114Cys (p.R1114C)	NM_001171.6 M	SNV	P	3 +	6
6579	ABCC6	c.3904G>A	p.Gly1302Arg (p.G1302R)	NM_001171.6 M	SNV	P	3 +	6
265021	ABCC6	c.4016G>A	p.Arg1339His (p.R1339H)	NM_001171.6 M	SNV	P	3 +	6
430158	ABCC6	c.914G>A	p.Arg305Gln (p.R305Q)	NM_001351800.1	SNV	P	3 +	6

512 Results, 20 per Page

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