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Gene: KDM5B & Disease: ASD, 8 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
2429820	KDM5B	c.563G>A	p.Gly188Glu (p.G188E)	NM_006618.5 M	SNV	LB	1 +	0
2429904	KDM5B	c.4189C>T	p.Arg1397Ter (p.R1397X)	NM_006618.5 M	SNV	P	2 +	0
2429820	KDM5B	c.563G>A	p.Gly188Glu (p.G188E)	NM_001314042.2	SNV	LB	1 +	0
	KDM5B	c.563G>A	p.Gly188Glu (p.G188E)	NM_001347591.2	SNV	LB	1 +	0
	KDM5B	c.548G>A	p.Gly183Glu (p.G183E)	NM_001399817.1	SNV	LB	1 +	0
2429904	KDM5B	c.4297C>T	p.Arg1433Ter (p.R1433X)	NM_001314042.2	SNV	P	2 +	0
	KDM5B	c.4054C>T	p.Arg1352Ter (p.R1352X)	NM_001347591.2	SNV	P	2 +	0
	KDM5B	c.4174C>T	p.Arg1392Ter (p.R1392X)	NM_001399817.1	SNV	P	2 +	0

8 Results, 20 per Page

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