ClinVar Miner

List of variants reported as uncertain significance for Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_014975.3(MAST1):c.2354A>T (p.Glu785Val)	rs1292469725	0.00001
NM_014975.3(MAST1):c.1177C>T (p.His393Tyr)	rs1970044016
NM_014975.3(MAST1):c.2294C>T (p.Thr765Ile)	rs779160316

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