List of variants reported as likely 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: 12

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HGVS	dbSNP	gnomAD frequency
NM_004958.4(MTOR):c.5501C>T (p.Thr1834Met)	rs142403193	0.00036
NM_006218.4(PIK3CA):c.2015+9A>G	rs200768351	0.00032
NM_004958.4(MTOR):c.6440A>C (p.Asn2147Thr)	rs767933385	0.00025
NM_005027.4(PIK3R2):c.320C>T (p.Pro107Leu)	rs199683047	0.00021
NM_004958.4(MTOR):c.706-18C>A	rs778886695	0.00010
NM_005465.7(AKT3):c.1082A>G (p.Glu361Gly)	rs760280114	0.00008
NM_005027.4(PIK3R2):c.1629G>A (p.Glu543=)	rs774532039	0.00006
NM_006218.4(PIK3CA):c.2040T>C (p.Val680=)	rs201402676	0.00004
NM_004958.4(MTOR):c.3646A>G (p.Ile1216Val)	rs760415071	0.00002
NM_005027.4(PIK3R2):c.322+7A>G	rs774883359	0.00002
NM_004958.4(MTOR):c.7447+27C>A	rs369718641	0.00001
NM_005465.7(AKT3):c.504G>A (p.Lys168=)	rs751924257	0.00001

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