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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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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

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