ClinVar Miner

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

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Total variants: 145
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HGVS dbSNP gnomAD frequency
NM_005228.5(EGFR):c.2361G>A (p.Gln787=) rs1050171 0.51617
NM_005228.5(EGFR):c.1887T>A (p.Thr629=) rs2227984 0.33239
NM_005228.5(EGFR):c.2709= (p.Thr903=) rs1140475 0.10499
NM_005228.5(EGFR):c.1839C>T (p.Ala613=) rs17290169 0.05521
NM_005228.5(EGFR):c.2289C>G (p.Ala763=) rs117420095 0.00046
NM_005228.5(EGFR):c.2748C>T (p.Asp916=) rs41396448 0.00046
NM_005228.5(EGFR):c.2355C>T (p.Thr785=) rs148188503 0.00033
NM_005228.5(EGFR):c.2543C>T (p.Pro848Leu) rs148934350 0.00026
NM_005228.5(EGFR):c.2166G>A (p.Ala722=) rs367694667 0.00012
NM_005228.5(EGFR):c.2491C>T (p.Arg831Cys) rs371228501 0.00012
NM_005228.5(EGFR):c.2457G>A (p.Val819=) rs56183713 0.00010
NM_005228.5(EGFR):c.2369C>T (p.Thr790Met) rs121434569 0.00006
NM_005228.5(EGFR):c.2572C>T (p.Leu858=) rs121913443 0.00003
NM_005228.5(EGFR):c.2280C>T (p.Leu760=) rs397517103 0.00002
NM_005228.5(EGFR):c.2464G>A (p.Ala822Thr) rs397517125 0.00002
NM_005228.5(EGFR):c.2592G>A (p.Ala864=) rs397517131 0.00002
NM_005228.5(EGFR):c.2125G>A (p.Glu709Lys) rs727504256 0.00001
NM_005228.5(EGFR):c.2170G>A (p.Gly724Ser) rs1051753269 0.00001
NM_005228.5(EGFR):c.2327G>A (p.Arg776His) rs483352806 0.00001
NM_005228.5(EGFR):c.2329C>T (p.Leu777=) rs397517117 0.00001
NM_005228.5(EGFR):c.2484G>A (p.Leu828=) rs727504312 0.00001
NM_005228.5(EGFR):c.2862C>T (p.Asp954=) rs397517138 0.00001
NM_005228.5(EGFR):c.2065G>C (p.Val689Leu) rs397517083
NM_005228.5(EGFR):c.2117T>C (p.Ile706Thr) rs397517084
NM_005228.5(EGFR):c.2126A>C (p.Glu709Ala) rs397517085
NM_005228.5(EGFR):c.2126A>G (p.Glu709Gly) rs397517085
NM_005228.5(EGFR):c.2126A>T (p.Glu709Val) rs397517085
NM_005228.5(EGFR):c.2127_2129del (p.Glu709_Thr710delinsAsp) rs397517086
NM_005228.5(EGFR):c.2127_2130delinsC (p.Glu709_Thr710delinsAsp) rs397517087
NM_005228.5(EGFR):c.2154G>A (p.Leu718=) rs397517088
NM_005228.5(EGFR):c.2154G>T (p.Leu718=) rs397517088
NM_005228.5(EGFR):c.2155G>A (p.Gly719Ser) rs28929495
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>C (p.Gly719Ala) rs121913428
NM_005228.5(EGFR):c.2166G>C (p.Ala722=) rs367694667
NM_005228.5(EGFR):c.2192G>A (p.Trp731Ter) rs397517089
NM_005228.5(EGFR):c.2217_2234dup (p.Ile740_Lys745dup) rs397517090
NM_005228.5(EGFR):c.2219T>C (p.Ile740Thr) rs397517092
NM_005228.5(EGFR):c.2230_2249delinsGTCAA (p.Ile744_Ala750delinsValLys) rs727503014
NM_005228.5(EGFR):c.2231_2232insAAAATTCCCGTCGCTA (p.Glu746fs) rs727504326
NM_005228.5(EGFR):c.2232C>T (p.Ile744=) rs397517093
NM_005228.5(EGFR):c.2232_2249delinsAAA (p.Glu746_Ala750del) rs397517094
NM_005228.5(EGFR):c.2232_2250del (p.Lys745fs) rs727504324
NM_005228.5(EGFR):c.2232_2252delinsAAAGTT (p.Glu746_Thr751delinsLeu) rs727504428
NM_005228.5(EGFR):c.2235_2243del (p.Leu747_Glu749del) rs727504266
NM_005228.5(EGFR):c.2235_2248delinsAATTC (p.Glu746_Ala750delinsIlePro) rs727504281
NM_005228.5(EGFR):c.2235_2249del (p.Glu746_Ala750del) rs121913421
NM_005228.5(EGFR):c.2235_2251delinsAATTC (p.Glu746_Thr751delinsIlePro) rs727504332
NM_005228.5(EGFR):c.2236G>C (p.Glu746Gln) rs121913427
NM_005228.5(EGFR):c.2236_2250del (p.Glu746_Ala750del) rs727504233
NM_005228.5(EGFR):c.2236_2252delinsAT (p.Glu746_Thr751delinsIle) rs727504402
NM_005228.5(EGFR):c.2237_2246delinsC (p.Glu746_Glu749delinsAla) rs727504444
NM_005228.5(EGFR):c.2237_2248delinsCAC (p.Glu746_Ala750delinsAlaPro) rs727503015
NM_005228.5(EGFR):c.2237_2248delinsCCC (p.Glu746_Ala750delinsAlaPro) rs727503015
NM_005228.5(EGFR):c.2237_2251del (p.Glu746_Thr751delinsAla) rs121913425
NM_005228.5(EGFR):c.2237_2251delinsTTC (p.Glu746_Thr751delinsValPro) rs727503016
NM_005228.5(EGFR):c.2237_2254del (p.Glu746_Ser752delinsAla) rs121913422
NM_005228.5(EGFR):c.2237_2255delinsT (p.Glu746_Ser752delinsVal) rs727504258
NM_005228.5(EGFR):c.2237_2256delinsTC (p.Glu746_Ser752delinsVal) rs121913424
NM_005228.5(EGFR):c.2237_2257delinsTCT (p.Glu746_Pro753delinsValSer) rs727504282
NM_005228.5(EGFR):c.2238_2248delinsGC (p.Leu747_Ala750delinsPro) rs121913435
NM_005228.5(EGFR):c.2238_2251delinsGC (p.Leu747_Thr751delinsPro) rs727504257
NM_005228.5(EGFR):c.2239T>C (p.Leu747=) rs397517095
NM_005228.5(EGFR):c.2239_2240delinsCC (p.Leu747Pro) rs397517096
NM_005228.5(EGFR):c.2239_2247del (p.Leu747_Glu749del) rs121913436
NM_005228.5(EGFR):c.2239_2248delinsC (p.Leu747_Ala750delinsPro) rs727504278
NM_005228.5(EGFR):c.2239_2251delinsC (p.Leu747_Thr751delinsPro) rs397509368
NM_005228.5(EGFR):c.2239_2256del (p.Leu747_Ser752del) rs121913440
NM_005228.5(EGFR):c.2239_2257delinsA (p.Leu747_Pro753delinsThr) rs727504339
NM_005228.5(EGFR):c.2239_2257delinsCAAT (p.Leu747_Pro753delinsGlnSer) rs727504339
NM_005228.5(EGFR):c.2239_2264delinsACGAGAGA (p.Leu747_Ala755delinsThrArgAsp) rs727504414
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.2240_2254del (p.Leu747_Thr751del) rs121913442
NM_005228.5(EGFR):c.2240_2257del (p.Leu747_Pro753delinsSer) rs121913438
NM_005228.5(EGFR):c.2247_2264del (p.Glu749_Ala755delinsAsp) rs397517099
NM_005228.5(EGFR):c.2248G>C (p.Ala750Pro) rs121913229
NM_005228.5(EGFR):c.2251_2275del (p.Thr751fs) rs727504284
NM_005228.5(EGFR):c.2251_2277delinsGAT (p.Thr751_Ile759delinsAsp) rs727504395
NM_005228.5(EGFR):c.2252C>T (p.Thr751Ile) rs727504316
NM_005228.5(EGFR):c.2252_2277delinsAA (p.Thr751_Ile759delinsLys) rs397517100
NM_005228.5(EGFR):c.2253_2276del (p.Ser752_Ile759del) rs727504232
NM_005228.5(EGFR):c.2254_2277del (p.Ser752_Ile759del) rs121913463
NM_005228.5(EGFR):c.2260A>G (p.Lys754Glu) rs397517101
NM_005228.5(EGFR):c.2265C>G (p.Ala755=) rs727503017
NM_005228.5(EGFR):c.2270A>T (p.Lys757Met) rs397517102
NM_005228.5(EGFR):c.2277_2278insT (p.Leu760fs) rs727503018
NM_005228.5(EGFR):c.2281G>T (p.Asp761Tyr) rs121913418
NM_005228.5(EGFR):c.2283+12_2283+147del rs1554348955
NM_005228.5(EGFR):c.2283+1G>A rs397517104
NM_005228.5(EGFR):c.2284-5_2290del rs397517105
NM_005228.5(EGFR):c.2284-5_2290dup rs397517106
NM_005228.5(EGFR):c.2292_2293insCATCAC (p.Tyr764_Val765insHisHis) rs1554350337
NM_005228.5(EGFR):c.2300C>T (p.Ala767Val) rs397517107
NM_005228.5(EGFR):c.2300_2308dup (p.Ala767_Val769dup) rs727504263
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_2311dup (p.Ser768_Asp770dup) rs397517109
NM_005228.5(EGFR):c.2305G>C (p.Val769Leu) rs147149347
NM_005228.5(EGFR):c.2305G>T (p.Val769Leu) rs147149347
NM_005228.5(EGFR):c.2307_2315dup (p.Asp770_Pro772dup) rs730880333
NM_005228.5(EGFR):c.2308_2309insGTT (p.Asp770delinsGlyTyr) rs1554350347
NM_005228.5(EGFR):c.2308_2310delinsTGGG (p.Asp770fs) rs727503019
NM_005228.5(EGFR):c.2308_2322dup (p.Asp770_Val774dup) rs1554350367
NM_005228.5(EGFR):c.2310C>T (p.Asp770=) rs397517110
NM_005228.5(EGFR):c.2310_2311insGGGTTG (p.Asp770_Asn771insGlyLeu) rs397517111
NM_005228.5(EGFR):c.2311A>G (p.Asn771Asp) rs727503020
NM_005228.5(EGFR):c.2311_2312insCAC (p.Asn771delinsThrHis) rs1554350351
NM_005228.5(EGFR):c.2311_2312insGTT (p.Asn771delinsSerTyr) rs1554350351
NM_005228.5(EGFR):c.2311_2319dup (p.Asn771_His773dup) rs397517115
NM_005228.5(EGFR):c.2312_2313insTGT (p.Asn771_Pro772insVal) rs727503021
NM_005228.5(EGFR):c.2312_2314dup (p.Asn771_Pro772insHis) rs397517112
NM_005228.5(EGFR):c.2313_2321dup (p.Pro772_Val774dup) rs397517113
NM_005228.5(EGFR):c.2315_2320dup (p.His773_Val774insAlaHis) rs397517114
NM_005228.5(EGFR):c.2317_2318insCGAACCCCC (p.Pro772_His773insProAsnPro) rs727503013
NM_005228.5(EGFR):c.2317_2319dup (p.His773dup) rs1554350381
NM_005228.5(EGFR):c.2317_2322dup (p.His773_Val774dup) rs397517116
NM_005228.5(EGFR):c.2320_2321insGCCACG (p.His773_Val774insGlyHis) rs1554350366
NM_005228.5(EGFR):c.2334G>T (p.Leu778=) rs397517118
NM_005228.5(EGFR):c.2335G>T (p.Gly779Cys) rs397517119
NM_005228.5(EGFR):c.2336G>T (p.Gly779Val) rs397517120
NM_005228.5(EGFR):c.2340C>T (p.Ile780=) rs397517121
NM_005228.5(EGFR):c.2349C>T (p.Thr783=) rs397517122
NM_005228.5(EGFR):c.2409G>A (p.Arg803=) rs397517123
NM_005228.5(EGFR):c.2439C>T (p.Tyr813=) rs397517124
NM_005228.5(EGFR):c.2497T>G (p.Leu833Val) rs397517126
NM_005228.5(EGFR):c.2500G>C (p.Val834Leu) rs397517127
NM_005228.5(EGFR):c.2500G>T (p.Val834Leu) rs397517127
NM_005228.5(EGFR):c.2504A>T (p.His835Leu) rs397517128
NM_005228.5(EGFR):c.2504_2591del (p.His835fs) rs1554353237
NM_005228.5(EGFR):c.2508C>T (p.Arg836=) rs2229066
NM_005228.5(EGFR):c.2572C>A (p.Leu858Met) rs121913443
NM_005228.5(EGFR):c.2573T>G (p.Leu858Arg) rs121434568
NM_005228.5(EGFR):c.2574G>T (p.Leu858=) rs397517129
NM_005228.5(EGFR):c.2580A>T (p.Lys860Asn) rs397517130
NM_005228.5(EGFR):c.2582T>A (p.Leu861Gln) rs121913444
NM_005228.5(EGFR):c.2582T>G (p.Leu861Arg) rs121913444
NM_005228.5(EGFR):c.2597A>T (p.Glu866Val) rs397517132
NM_005228.5(EGFR):c.2598G>A (p.Glu866=) rs397517133
NM_005228.5(EGFR):c.2612C>G (p.Ala871Gly) rs397517134
NM_005228.5(EGFR):c.2625+6G>T rs397517135
NM_005228.5(EGFR):c.2642T>C (p.Met881Thr) rs397517136
NM_005228.5(EGFR):c.2654C>T (p.Ser885Leu) rs397517137
NM_005228.5(EGFR):c.2775C>T (p.Ser925=) rs727504306

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