ClinVar Miner

List of variants in gene EGFR reported as likely pathogenic for carcinoma

Included ClinVar conditions (243):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 46
Download table as spreadsheet
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.2257C>T (p.Pro753Ser) rs121913231 0.00001
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.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.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.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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.