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Gene: ASXL1 & Disease: Microcephaly, 4 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
813522	ASXL1	c.3115C>T	p.Gln1039Ter (p.Q1039X)	NM_015338.6 M	SNV	P	1 +	1
813581	ASXL1	c.4279C>T	p.Pro1427Ser (p.P1427S)	NM_015338.6 M	SNV	VUS	1 +	1
813522	ASXL1	c.2932C>T	p.Gln978Ter (p.Q978X)	NM_001363734.1	SNV	P	1 +	1
813581	ASXL1	c.4096C>T	p.Pro1366Ser (p.P1366S)	NM_001363734.1	SNV	VUS	1 +	1

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