ClinVar Miner

List of variants in gene EGFR reported by Database of Curated Mutations (DoCM)

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Gene type:
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Total variants: 48
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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.2281G>A (p.Asp761Asn) rs121913418 0.00003
NM_005228.5(EGFR):c.2170G>A (p.Gly724Ser) rs1051753269 0.00001
NM_005228.5(EGFR):c.2257C>T (p.Pro753Ser) rs121913231 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.1476C>A (p.Ser492Arg) rs1057519860
NM_005228.5(EGFR):c.1636C>T (p.Pro546Ser) rs1057519830
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.2068G>A (p.Glu690Lys) rs1057519794
NM_005228.5(EGFR):c.2155G>A (p.Gly719Ser) 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.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.2234A>G (p.Lys745Arg) rs121913433
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.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.2303G>T (p.Ser768Ile) rs121913465
NM_005228.5(EGFR):c.2318A>G (p.His773Arg) rs121913432
NM_005228.5(EGFR):c.2389T>A (p.Cys797Ser) rs1057519861
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.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.322A>G (p.Arg108Gly) rs1057519888
NM_005228.5(EGFR):c.323G>A (p.Arg108Lys) rs1057519828
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

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