List of variants reported as benign for Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes by ClinGen Brain Malformations Variant Curation Expert Panel

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_006218.4(PIK3CA):c.1173A>G (p.Ile391Met)	rs2230461	0.10578
NM_005027.4(PIK3R2):c.160G>A (p.Val54Met)	rs201370957	0.00242
NM_006218.4(PIK3CA):c.2198A>G (p.Lys733Arg)	rs181194055	0.00011
NM_004958.4(MTOR):c.3117+34G>A	rs545304092	0.00001

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