List of variants reported as pathogenic for Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations by OMIM

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_014975.3(MAST1):c.1549G>A (p.Gly517Ser)	rs1568413207
NM_014975.3(MAST1):c.580GAG[1] (p.Glu195del)	rs1568408280
NM_014975.3(MAST1):c.826AAG[1] (p.Lys277del)	rs1568409494
NM_014975.3(MAST1):c.832_834del (p.Leu279del)	rs1568409502

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