List of variants reported as pathogenic for Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_004958.4(MTOR):c.4379T>C (p.Leu1460Pro)	rs1057519779
NM_004958.4(MTOR):c.4447T>C (p.Cys1483Arg)	rs1057519914
NM_004958.4(MTOR):c.4448G>A (p.Cys1483Tyr)	rs786205165
NM_004958.4(MTOR):c.5930C>A (p.Thr1977Lys)	rs587777893
NM_004958.4(MTOR):c.5930C>G (p.Thr1977Arg)	rs587777893
NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr)	rs587777894
NM_004958.4(MTOR):c.6644C>T (p.Ser2215Phe)	rs587777894
NM_004958.4(MTOR):c.7280T>C (p.Leu2427Pro)	rs1085307113
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg)	rs587776934
NM_005465.7(AKT3):c.49G>A (p.Glu17Lys)	rs397514606
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)	rs121913273
NM_006218.4(PIK3CA):c.2176G>A (p.Glu726Lys)	rs867262025
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg)	rs587776932
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)	rs121913279

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