List of variants reported as pathogenic for CEBALID syndrome by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_002430.3(MN1):c.3794del (p.Pro1265fs)
NM_004958.4(MTOR):c.4448G>A (p.Cys1483Tyr)	rs786205165
NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys)	rs863225264
NM_004958.4(MTOR):c.5930C>T (p.Thr1977Ile)	rs587777893
NM_004958.4(MTOR):c.7255G>A (p.Glu2419Lys)	rs587777900
NM_004958.4(MTOR):c.7280T>C (p.Leu2427Pro)	rs1085307113
NM_004958.4(MTOR):c.7501A>T (p.Ile2501Phe)	rs968817513

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