ClinVar Miner

List of variants in gene EGFR reported as pathogenic

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Total variants: 70
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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.2492G>A (p.Arg831His) rs150036236 0.00003
NM_005228.5(EGFR):c.1591C>T (p.Arg531Ter) rs1785707212 0.00001
NM_005228.5(EGFR):c.2327G>A (p.Arg776His) rs483352806 0.00001
NM_005228.5(EGFR):c.2404G>A (p.Val802Ile) rs1351046105 0.00001
NM_005228.5(EGFR):c.292C>T (p.Arg98Ter) rs1794575659 0.00001
NM_005228.5(EGFR):c.988G>A (p.Glu330Lys) rs139429793 0.00001
NC_000007.13:g.(?_55086755)_(55274084_?)del
NC_000007.13:g.(?_55221694)_(55225456_?)del
NC_000007.13:g.(?_55223561)_(55233842_?)del
NM_001346941.2(EGFR):c.89-4536_89-4529del rs1271819892
NM_005228.5(EGFR):c.113del (p.Leu38fs) rs2128926159
NM_005228.5(EGFR):c.1283G>A (p.Gly428Asp) rs606231253
NM_005228.5(EGFR):c.132del (p.Phe44fs)
NM_005228.5(EGFR):c.1418del (p.Asn473fs) rs1785628941
NM_005228.5(EGFR):c.1536del (p.Glu513fs) rs1785702810
NM_005228.5(EGFR):c.1537G>T (p.Glu513Ter) rs754646330
NM_005228.5(EGFR):c.154C>T (p.Gln52Ter) rs2128926255
NM_005228.5(EGFR):c.1605C>A (p.Cys535Ter) rs763346690
NM_005228.5(EGFR):c.1786C>T (p.Pro596Ser)
NM_005228.5(EGFR):c.1792G>A (p.Gly598Arg)
NM_005228.5(EGFR):c.1860_1861delinsAA (p.Cys620_His621delinsTer) rs2128946495
NM_005228.5(EGFR):c.2005C>T (p.Arg669Ter)
NM_005228.5(EGFR):c.2090_2091dup (p.Ala698fs)
NM_005228.5(EGFR):c.211C>T (p.Gln71Ter)
NM_005228.5(EGFR):c.2127_2129del (p.Glu709_Thr710delinsAsp) rs397517086
NM_005228.5(EGFR):c.213_228del (p.Gln71fs)
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>C (p.Gly719Ala) rs121913428
NM_005228.5(EGFR):c.2235_2249del (p.Glu746_Ala750del) rs121913421
NM_005228.5(EGFR):c.2236_2250del (p.Glu746_Ala750del) rs727504233
NM_005228.5(EGFR):c.2287G>A (p.Ala763Thr)
NM_005228.5(EGFR):c.2289del (p.Tyr764fs) rs2128958231
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.2303_2305delinsTCT (p.Ser768_Val769delinsIleLeu) rs1584238193
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.2317delinsAACCCCT (p.His773delinsAsnProTyr)
NM_005228.5(EGFR):c.2371C>T (p.Gln791Ter)
NM_005228.5(EGFR):c.2500G>T (p.Val834Leu) rs397517127
NM_005228.5(EGFR):c.2545C>T (p.Gln849Ter) rs1787407972
NM_005228.5(EGFR):c.2561C>T (p.Thr854Ile)
NM_005228.5(EGFR):c.2573T>G (p.Leu858Arg) rs121434568
NM_005228.5(EGFR):c.2577del (p.Lys860fs) rs1787409872
NM_005228.5(EGFR):c.2582T>A (p.Leu861Gln) rs121913444
NM_005228.5(EGFR):c.2587G>A (p.Gly863Ser) rs2128964656
NM_005228.5(EGFR):c.2650G>T (p.Glu884Ter) rs2128965518
NM_005228.5(EGFR):c.2715G>A (p.Trp905Ter) rs2128968646
NM_005228.5(EGFR):c.2720T>A (p.Leu907Ter) rs2128968655
NM_005228.5(EGFR):c.2745T>A (p.Tyr915Ter) rs1275784384
NM_005228.5(EGFR):c.2852G>A (p.Trp951Ter)
NM_005228.5(EGFR):c.2917C>T (p.Arg973Ter) rs748491031
NM_005228.5(EGFR):c.2921_2928del (p.Asp974fs) rs2128969953
NM_005228.5(EGFR):c.2927del (p.Gln976fs)
NM_005228.5(EGFR):c.2956_2959del (p.Arg986fs)
NM_005228.5(EGFR):c.3061C>T (p.Gln1021Ter) rs2128971690
NM_005228.5(EGFR):c.3147C>A (p.Cys1049Ter) rs1787859607
NM_005228.5(EGFR):c.357_361del (p.Leu119fs)
NM_005228.5(EGFR):c.439del (p.Ala147fs)
NM_005228.5(EGFR):c.492_511del (p.Trp164_Asp171delinsTer)
NM_005228.5(EGFR):c.763C>T (p.Arg255Ter) rs776490661
NM_005228.5(EGFR):c.797dup (p.Leu267fs)
NM_005228.5(EGFR):c.877A>T (p.Lys293Ter) rs2128935161
NM_005228.5(EGFR):c.879del (p.Lys294fs)
NM_005228.5(EGFR):c.889del (p.Arg297fs)
NM_005228.5(EGFR):c.925C>T (p.Arg309Ter) rs1444692842
NM_005228.5(EGFR):c.977G>T (p.Cys326Phe) rs886037891
NM_005228.5(EGFR):c.977_978del (p.Lys325_Cys326insTer)

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