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Gene: MACF1 & Disease: Lissencephaly, 4 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
586948	MACF1	c.21707G>T	p.Cys7236Phe (p.C7236F)	NM_001394062.1 M	SNV	P	2 +	1
586953	MACF1	c.20293G>C	p.Gly6765Arg (p.G6765R)	NM_001394062.1 M	SNV	P	2 +	1
586948	MACF1	c.15530G>T	p.Cys5177Phe (p.C5177F)	NM_012090.5	SNV	P	2 +	1
586953	MACF1	c.14116G>C	p.Gly4706Arg (p.G4706R)	NM_012090.5	SNV	P	2 +	1

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