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Gene: ECE1 & Disease: HSCR1, 8 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
599419	ECE1	c.1879C>T	p.Arg627Trp (p.R627W)	NM_001397.3 M	SNV	LP	1 +	1
	ECE1	c.1843C>T	p.Arg615Trp (p.R615W)	NM_001113347.2	SNV	LP	1 +	1
	ECE1	c.1831C>T	p.Arg611Trp (p.R611W)	NM_001113348.2	SNV	LP	1 +	1
	ECE1	c.1870C>T	p.Arg624Trp (p.R624W)	NM_001113349.2	SNV	LP	1 +	1
599418	ECE1	c.1067T>G	p.Phe356Cys (p.F356C)	NM_001397.3 M	SNV	LP	1 +	0
	ECE1	c.1031T>G	p.Phe344Cys (p.F344C)	NM_001113347.2	SNV	LP	1 +	0
	ECE1	c.1019T>G	p.Phe340Cys (p.F340C)	NM_001113348.2	SNV	LP	1 +	0
	ECE1	c.1058T>G	p.Phe353Cys (p.F353C)	NM_001113349.2	SNV	LP	1 +	0

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