List of variants reported as pathogenic for central nervous system malformation by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)	rs113994152	0.00092
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro)	rs139632595	0.00026
NM_004958.4(MTOR):c.5663T>G (p.Phe1888Cys)	rs869312666
NM_005027.4(PIK3R2):c.1153G>A (p.Gly385Arg)	rs2043767578
NM_005465.7(AKT3):c.963T>G (p.Asn321Lys)	rs1673171921
NM_006218.4(PIK3CA):c.1093G>A (p.Glu365Lys)	rs1064793732
NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile)	rs121913283
NM_017635.5(KMT5B):c.559C>T (p.Arg187Ter)	rs114727354
NM_207346.3(TSEN54):c.953del (p.Pro318fs)

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