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Gene: SMARCAL1 & Disease: Microcephaly, 4 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
4171	SMARCAL1	c.2542G>T	p.Glu848Ter (p.E848X)	NM_014140.4 M	SNV	P	6 +	13
4171	SMARCAL1	c.2542G>T	p.Glu848Ter (p.E848X)	NM_001127207.2	SNV	P	6 +	13
374208	SMARCAL1	c.723C>A	p.Cys241Ter (p.C241X)	NM_014140.4 M	SNV	P	5 +	2
374208	SMARCAL1	c.723C>A	p.Cys241Ter (p.C241X)	NM_001127207.2	SNV	P	5 +	2

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