ClinVar Miner

List of variants in gene EGFR reported as likely pathogenic

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Total variants: 84
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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.2506C>T (p.Arg836Cys) rs374952732 0.00004
NM_005228.5(EGFR):c.2281G>A (p.Asp761Asn) rs121913418 0.00003
NM_005228.5(EGFR):c.1919+2T>G rs1166325650 0.00001
NM_005228.5(EGFR):c.2061+2T>C rs587777939 0.00001
NM_005228.5(EGFR):c.2257C>T (p.Pro753Ser) rs121913231 0.00001
NM_005228.5(EGFR):c.2327G>A (p.Arg776His) rs483352806 0.00001
NM_005228.5(EGFR):c.2386G>A (p.Gly796Ser) rs754426793 0.00001
NM_005228.5(EGFR):c.2402A>G (p.Tyr801Cys) rs779394350 0.00001
NM_005228.5(EGFR):c.2527G>A (p.Val843Ile) rs146795390 0.00001
NM_005228.5(EGFR):c.1474A>G (p.Ser492Gly) rs1057519760
NM_005228.5(EGFR):c.1498+1G>T
NM_005228.5(EGFR):c.1636C>T (p.Pro546Ser) rs1057519830
NM_005228.5(EGFR):c.1723-2A>G
NM_005228.5(EGFR):c.1793G>C (p.Gly598Ala) rs139236063
NM_005228.5(EGFR):c.1793G>T (p.Gly598Val) rs139236063
NM_005228.5(EGFR):c.1881-2A>C
NM_005228.5(EGFR):c.1881-2A>G rs774963273
NM_005228.5(EGFR):c.1881-858G>T rs909905659
NM_005228.5(EGFR):c.1919+1G>A rs2128951424
NM_005228.5(EGFR):c.1936A>T (p.Ile646Phe)
NM_005228.5(EGFR):c.2061+1G>A
NM_005228.5(EGFR):c.2068G>A (p.Glu690Lys) rs1057519794
NM_005228.5(EGFR):c.2155G>C (p.Gly719Arg) rs28929495
NM_005228.5(EGFR):c.2155G>T (p.Gly719Cys) rs28929495
NM_005228.5(EGFR):c.2156G>A (p.Gly719Asp) rs121913428
NM_005228.5(EGFR):c.2156G>C (p.Gly719Ala) rs121913428
NM_005228.5(EGFR):c.2181_2184+7del
NM_005228.5(EGFR):c.2193G>A (p.Trp731Ter) rs121913467
NM_005228.5(EGFR):c.2198C>T (p.Pro733Leu) rs121913446
NM_005228.5(EGFR):c.2200G>A (p.Glu734Lys) rs121913420
NM_005228.5(EGFR):c.2203G>A (p.Gly735Ser) rs121913430
NM_005228.5(EGFR):c.2225T>C (p.Val742Ala) rs121913466
NM_005228.5(EGFR):c.2232_2249delinsAAA (p.Glu746_Ala750del) rs397517094
NM_005228.5(EGFR):c.2234A>G (p.Lys745Arg) rs121913433
NM_005228.5(EGFR):c.2235_2237del (p.Glu746del) rs1786518484
NM_005228.5(EGFR):c.2236G>A (p.Glu746Lys) rs121913427
NM_005228.5(EGFR):c.2240T>C (p.Leu747Ser) rs397517097
NM_005228.5(EGFR):c.2240_2248del (p.Leu747_Ala750delinsSer) rs397517098
NM_005228.5(EGFR):c.2245G>C (p.Glu749Gln) rs1057520037
NM_005228.5(EGFR):c.2248G>C (p.Ala750Pro) rs121913229
NM_005228.5(EGFR):c.2255C>A (p.Ser752Tyr) rs121913464
NM_005228.5(EGFR):c.2281G>T (p.Asp761Tyr) rs121913418
NM_005228.5(EGFR):c.2284-5_2290dup rs397517106
NM_005228.5(EGFR):c.2303G>T (p.Ser768Ile) rs121913465
NM_005228.5(EGFR):c.2303_2311dup (p.Ser768_Asp770dup) rs397517109
NM_005228.5(EGFR):c.2309_2310insGTC (p.Asp770delinsGluSer) rs1554350382
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.2318A>G (p.His773Arg) rs121913432
NM_005228.5(EGFR):c.2320_2321insGCCACG (p.His773_Val774insGlyHis) rs1554350366
NM_005228.5(EGFR):c.240+1G>A rs2128926460
NM_005228.5(EGFR):c.2428G>A (p.Gly810Ser) rs121913230
NM_005228.5(EGFR):c.2429G>A (p.Gly810Asp) rs121913431
NM_005228.5(EGFR):c.2469+1G>A
NM_005228.5(EGFR):c.2533G>C (p.Val845Leu) rs1787407031
NM_005228.5(EGFR):c.2572C>A (p.Leu858Met) rs121913443
NM_005228.5(EGFR):c.2572_2573inv (p.Leu858Arg)
NM_005228.5(EGFR):c.2573T>A (p.Leu858Gln) rs121434568
NM_005228.5(EGFR):c.2573T>G (p.Leu858Arg) rs121434568
NM_005228.5(EGFR):c.2573_2574delinsGT (p.Leu858Arg) rs1057519848
NM_005228.5(EGFR):c.2582T>A (p.Leu861Gln) rs121913444
NM_005228.5(EGFR):c.2582T>C (p.Leu861Pro) rs121913444
NM_005228.5(EGFR):c.2582T>G (p.Leu861Arg) rs121913444
NM_005228.5(EGFR):c.2947-1G>A rs1787830570
NM_005228.5(EGFR):c.2947-1G>T
NM_005228.5(EGFR):c.2947-2A>G
NM_005228.5(EGFR):c.3115-1G>A rs142231053
NM_005228.5(EGFR):c.3162+1G>A rs1034084415
NM_005228.5(EGFR):c.3162+1G>T rs1034084415
NM_005228.5(EGFR):c.322A>G (p.Arg108Gly) rs1057519888
NM_005228.5(EGFR):c.323G>A (p.Arg108Lys) rs1057519828
NM_005228.5(EGFR):c.3552T>A (p.Asn1184Lys)
NM_005228.5(EGFR):c.628+1G>T
NM_005228.5(EGFR):c.629-2A>G
NM_005228.5(EGFR):c.748-1G>A
NM_005228.5(EGFR):c.787A>C (p.Thr263Pro) rs1057519829
NM_005228.5(EGFR):c.865G>A (p.Ala289Thr) rs769696078
NM_005228.5(EGFR):c.865_866delinsAA (p.Ala289Asn) rs1057519887
NM_005228.5(EGFR):c.865_866delinsAT (p.Ala289Ile) rs1057519887
NM_005228.5(EGFR):c.866C>A (p.Ala289Asp) rs149840192
NM_005228.5(EGFR):c.866C>T (p.Ala289Val) rs149840192
NM_005228.5(EGFR):c.88+2T>G
NM_005228.5(EGFR):c.889+1G>A

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