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Gene: SCN1A & Disease: Hemimegalencephaly, 15 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
599005	SCN1A	c.3327dup	p.Ser1110fs (p.S1110fs)	NM_001165963.4 M	Dup	P	6 +	0
	SCN1A	c.3243dup	p.Ser1082fs (p.S1082fs)	NM_001165964.3	Dup	P	6 +	0
	SCN1A	c.3327dup	p.Ser1110fs (p.S1110fs)	NM_001202435.3	Dup	P	6 +	0
	SCN1A	c.3327dup	p.Ser1110fs (p.S1110fs)	NM_001353948.2	Dup	P	6 +	0
	SCN1A	c.3294dup	p.Ser1099fs (p.S1099fs)	NM_001353949.2	Dup	P	6 +	0
	SCN1A	c.3294dup	p.Ser1099fs (p.S1099fs)	NM_001353950.2	Dup	P	6 +	0
	SCN1A	c.3294dup	p.Ser1099fs (p.S1099fs)	NM_001353951.2	Dup	P	6 +	0
	SCN1A	c.3294dup	p.Ser1099fs (p.S1099fs)	NM_001353952.2	Dup	P	6 +	0
	SCN1A	c.3291dup	p.Ser1098fs (p.S1098fs)	NM_001353954.2	Dup	P	6 +	0
	SCN1A	c.3291dup	p.Ser1098fs (p.S1098fs)	NM_001353955.2	Dup	P	6 +	0
	SCN1A	c.3243dup	p.Ser1082fs (p.S1082fs)	NM_001353957.2	Dup	P	6 +	0
	SCN1A	c.3243dup	p.Ser1082fs (p.S1082fs)	NM_001353958.2	Dup	P	6 +	0
	SCN1A	c.3240dup	p.Ser1081fs (p.S1081fs)	NM_001353960.2	Dup	P	6 +	0
	SCN1A	c.885dup	p.Ser296fs (p.S296fs)	NM_001353961.2	Dup	P	6 +	0
	SCN1A	c.3294dup	p.Ser1099fs (p.S1099fs)	NM_006920.6	Dup	P	6 +	0

15 Results, 20 per Page

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