ClinVar Miner

List of variants reported as likely benign for Isolated focal cortical dysplasia type II; Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_004958.4(MTOR):c.2649+9C>T rs144243347 0.00459
NM_004958.4(MTOR):c.1145A>G (p.Asn382Ser) rs146393749 0.00039
NM_004958.4(MTOR):c.6810+12G>A rs373052413 0.00006
NM_004958.4(MTOR):c.2331+6A>G rs761030701
NM_004958.4(MTOR):c.348C>T (p.Pro116=) rs558389352

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