ClinVar Miner

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

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Gene type:
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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_005228.5(EGFR):c.2127_2129del (p.Glu709_Thr710delinsAsp) rs397517086
NM_005228.5(EGFR):c.2155G>T (p.Gly719Cys) rs28929495
NM_005228.5(EGFR):c.2156G>C (p.Gly719Ala) rs121913428
NM_005228.5(EGFR):c.2303G>T (p.Ser768Ile) rs121913465
NM_005228.5(EGFR):c.2303_2304delinsTT (p.Ser768Ile) rs397517108
NM_005228.5(EGFR):c.2310_2311insGGGTTG (p.Asp770_Asn771insGlyLeu) rs397517111
NM_005228.5(EGFR):c.2312_2314dup (p.Asn771_Pro772insHis) rs397517112
NM_005228.5(EGFR):c.2500G>T (p.Val834Leu) rs397517127

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