List of variants reported as pathogenic for specific developmental disorder by Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001382637.1(OTUD7A):c.697C>T (p.Leu233Phe)	rs1162953058
NM_014921.5(ADGRL1):c.2049dup (p.Glu684fs)	rs2144699293
NM_014921.5(ADGRL1):c.2998T>C (p.Trp1000Arg)	rs2144666888
NM_014921.5(ADGRL1):c.3476C>T (p.Ser1159Phe)	rs2144613361
NM_014921.5(ADGRL1):c.819G>A (p.Trp273Ter)	rs2144755046

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