ClinVar Miner

List of variants in gene EGFR reported as likely pathogenic by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Gene type:
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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_005228.5(EGFR):c.2369C>T (p.Thr790Met) rs121434569 0.00006
NM_005228.5(EGFR):c.2155G>C (p.Gly719Arg) rs28929495
NM_005228.5(EGFR):c.2232_2249delinsAAA (p.Glu746_Ala750del) rs397517094
NM_005228.5(EGFR):c.2240_2248del (p.Leu747_Ala750delinsSer) rs397517098
NM_005228.5(EGFR):c.2284-5_2290dup rs397517106
NM_005228.5(EGFR):c.2303_2311dup (p.Ser768_Asp770dup) rs397517109
NM_005228.5(EGFR):c.2315_2320dup (p.His773_Val774insAlaHis) rs397517114
NM_005228.5(EGFR):c.2317_2322dup (p.His773_Val774dup) rs397517116
NM_005228.5(EGFR):c.2320_2321insGCCACG (p.His773_Val774insGlyHis) rs1554350366

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