ClinVar Miner

List of variants in gene EGFR studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 256
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HGVS dbSNP gnomAD frequency
NM_005228.5(EGFR):c.2709T>C (p.Thr903=) rs1140475 0.89501
NM_005228.5(EGFR):c.-191A>C rs712830 0.89015
NM_005228.5(EGFR):c.3162+200_3162+201insAG rs34723095 0.88445
NM_005228.5(EGFR):c.1208-186G>C rs4947987 0.86953
NM_005228.5(EGFR):c.3272-123G>A rs2692456 0.83662
NM_005228.5(EGFR):c.2283+269T>C rs712831 0.73395
NM_005228.5(EGFR):c.1498+142C>T rs759162 0.72346
NM_005228.5(EGFR):c.1498+22A>T rs1558544 0.68282
NM_005228.5(EGFR):c.2625+196A>G rs6970262 0.65404
NM_005228.5(EGFR):c.629-62A>G rs11506105 0.58710
NM_005228.5(EGFR):c.2284-199T>C rs10241326 0.57815
NM_005228.5(EGFR):c.748-257C>G rs12718946 0.53108
NM_005228.5(EGFR):c.560-84T>C rs2075109 0.52471
NM_005228.5(EGFR):c.2361G>A (p.Gln787=) rs1050171 0.51617
NM_005228.5(EGFR):c.628+252C>G rs2075111 0.51040
NM_005228.5(EGFR):c.559+214G>T rs2270247 0.50704
NM_005228.5(EGFR):c.474C>T (p.Asn158=) rs2072454 0.50662
NM_005228.5(EGFR):c.89-17723A>C rs13244925 0.49781
NM_005228.5(EGFR):c.1887T>A (p.Thr629=) rs2227984 0.33239
NM_005228.5(EGFR):c.1881-600G>A rs10228436 0.31502
NM_005228.5(EGFR):c.1208-216G>C rs13222549 0.31145
NM_005228.5(EGFR):c.1920-215G>C rs2241055 0.29766
NM_005228.5(EGFR):c.2848+201C>T rs2293348 0.25434
NM_005228.5(EGFR):c.2283+96A>G rs2017000 0.24201
NM_005228.5(EGFR):c.748-49G>A rs4947986 0.23412
NM_005228.5(EGFR):c.1499-177A>G rs11536635 0.22322
NM_005228.5(EGFR):c.1562G>A (p.Arg521Lys) rs2227983 0.22212
NM_005228.5(EGFR):c.1723-247G>T rs17336919 0.22094
NM_005228.5(EGFR):c.2284-60T>C rs10241451 0.22068
NM_005228.5(EGFR):c.1631+219T>C rs3752651 0.15124
NM_005228.5(EGFR):c.88+81G>T rs17335738 0.14939
NM_005228.5(EGFR):c.1881-781C>T rs10258429 0.11139
NM_005228.5(EGFR):c.*774T>C rs884225 0.10255
NM_005228.5(EGFR):c.2982C>T (p.Asp994=) rs2293347 0.09191
NM_005228.5(EGFR):c.748-235C>T rs11770689 0.09122
NM_005228.5(EGFR):c.1881-2848T>C rs12538371 0.08704
NM_005228.5(EGFR):c.559+10G>A rs7801956 0.06316
NM_005228.5(EGFR):c.424+135G>A rs4947984 0.05698
NM_005228.5(EGFR):c.1880+55C>T rs17290183 0.05526
NM_005228.5(EGFR):c.1839C>T (p.Ala613=) rs17290169 0.05521
NM_005228.5(EGFR):c.2184+100C>T rs17290336 0.05234
NM_005228.5(EGFR):c.2062-104C>A rs17337100 0.05055
NM_005228.5(EGFR):c.2061+291G>C rs17290329 0.05048
NM_005228.5(EGFR):c.2283+125T>C rs17290378 0.04799
NM_005228.5(EGFR):c.2702-183C>T rs10250225 0.04548
NM_005228.5(EGFR):c.3163-334G>A rs17290734 0.04548
NM_005228.5(EGFR):c.2946+194A>C rs17290678 0.04531
NM_005228.5(EGFR):c.2946+191C>T rs17337465 0.04523
NM_005228.5(EGFR):c.3272-295T>C rs41514345 0.04520
NM_005228.5(EGFR):c.3163-90A>G rs17172455 0.04491
NM_005228.5(EGFR):c.3271+293T>G rs17337521 0.04489
NM_005228.5(EGFR):c.240+58G>A rs17336331 0.03771
NM_005228.5(EGFR):c.1881-641C>T rs10258568 0.03457
NM_005228.5(EGFR):c.2626-118C>G rs17290587 0.03376
NM_005228.5(EGFR):c.2626-19C>T rs17337360 0.03371
NM_005228.5(EGFR):c.2470-115A>G rs17290552 0.03366
NM_005228.5(EGFR):c.2184+19G>A rs17337107 0.02954
NM_005228.5(EGFR):c.89-267T>C rs17336324 0.02864
NM_005228.5(EGFR):c.2849-261A>T rs17290671 0.02751
NM_005228.5(EGFR):c.559+102A>T rs17336451 0.02741
NM_005228.5(EGFR):c.560-238G>A rs10251695 0.02554
NM_005228.5(EGFR):c.1919+258G>A rs17337030 0.02538
NM_005228.5(EGFR):c.1208-244del rs17336688 0.02409
NM_005228.5(EGFR):c.2185-252G>A rs17337121 0.02129
NM_005228.5(EGFR):c.3162+36C>T rs17290706 0.02104
NM_005228.5(EGFR):c.2184+297G>A rs17290357 0.02097
NM_005228.5(EGFR):c.1881-891T>C rs17336974 0.02080
NM_005228.5(EGFR):c.1919+174G>A rs17290260 0.02080
NM_005228.5(EGFR):c.1299-197G>A rs17289991 0.02037
NM_005228.5(EGFR):c.2626-173G>A rs17290580 0.02029
NM_005228.5(EGFR):c.2061+65G>A rs17290301 0.01996
NM_005228.5(EGFR):c.2283+69G>A rs17337135 0.01932
NM_005228.5(EGFR):c.531G>A (p.Ser177=) rs17336437 0.01924
NM_005228.5(EGFR):c.2061+96G>A rs17290308 0.01904
NM_005228.5(EGFR):c.1881-488A>G rs17336995 0.01892
NM_005228.5(EGFR):c.1920-248A>G rs41407249 0.01615
NM_005228.5(EGFR):c.560-184T>A rs17289760 0.01459
NM_005228.5(EGFR):c.425-126T>C rs17172450 0.01416
NM_005228.5(EGFR):c.1881-2611A>C rs140321332 0.01394
NM_005228.5(EGFR):c.2061+190A>G rs17290315 0.01269
NM_005228.5(EGFR):c.88+63G>C rs17335724 0.01268
NM_005228.5(EGFR):c.88+61C>A rs17335717 0.01265
NM_005228.5(EGFR):c.1881-721G>A rs17336988 0.01263
NM_005228.5(EGFR):c.3115-180G>T rs17337486 0.01194
NM_005228.5(EGFR):c.1631+133G>A rs75985451 0.01073
NM_005228.5(EGFR):c.747+295T>C rs17336584 0.01059
NM_005228.5(EGFR):c.1881-2410T>C rs75040104 0.01054
NM_005228.5(EGFR):c.2849-165C>T rs17337444 0.01044
NM_005228.5(EGFR):c.2184+154A>G rs17172452 0.00969
NM_005228.5(EGFR):c.*78C>T rs17290762 0.00926
NM_005228.5(EGFR):c.1632T>C (p.Gly544=) rs17290103 0.00901
NM_005228.5(EGFR):c.1723-64T>G rs17336933 0.00890
NM_005228.5(EGFR):c.1317A>G (p.Ala439=) rs17290005 0.00886
NM_005228.5(EGFR):c.1880+34C>T rs17290176 0.00884
NM_005228.5(EGFR):c.1880+294A>T rs572751534 0.00881
NM_005228.5(EGFR):c.1722+68T>C rs17290117 0.00880
NM_005228.5(EGFR):c.1509C>T (p.Gly503=) rs17336800 0.00859
NM_005228.5(EGFR):c.2047C>T (p.Leu683=) rs55669340 0.00851
NM_005228.5(EGFR):c.1723-88C>T rs17336926 0.00850
NM_005228.5(EGFR):c.1788G>A (p.Pro596=) rs17290162 0.00841
NM_005228.5(EGFR):c.1723-294C>T rs17336912 0.00838
NM_005228.5(EGFR):c.1881-2372T>A rs184292880 0.00788
NM_005228.5(EGFR):c.2946+241G>A rs41466248 0.00758
NM_005228.5(EGFR):c.2849-188C>T rs41499254 0.00742
NM_005228.5(EGFR):c.*35C>T rs17290755 0.00720
NM_005228.5(EGFR):c.1299-7A>G rs75911944 0.00690
NM_005228.5(EGFR):c.747+169C>T rs78896241 0.00686
NM_005228.5(EGFR):c.2963A>C (p.His988Pro) rs17290699 0.00672
NM_005228.5(EGFR):c.425-84C>T rs115102360 0.00610
NM_005228.5(EGFR):c.1919+183C>T rs17290267 0.00530
NM_005228.5(EGFR):c.1830C>T (p.Tyr610=) rs115350205 0.00515
NM_005228.5(EGFR):c.2284-56C>T rs41323247 0.00491
NM_005228.5(EGFR):c.3163-304G>A rs17337500 0.00489
NM_005228.5(EGFR):c.1919+136A>G rs41491049 0.00445
NM_005228.5(EGFR):c.3114+90C>T rs17337479 0.00379
NM_005228.5(EGFR):c.3210C>T (p.Ser1070=) rs41494749 0.00327
NM_005228.5(EGFR):c.921C>T (p.Cys307=) rs17289893 0.00302
NM_005228.5(EGFR):c.3272-52A>G rs145306310 0.00257
NM_005228.5(EGFR):c.3015A>G (p.Glu1005=) rs55737335 0.00247
NM_005228.5(EGFR):c.2487G>A (p.Glu829=) rs41420046 0.00198
NM_005228.5(EGFR):c.3592C>T (p.Leu1198=) rs142188270 0.00165
NM_005228.5(EGFR):c.889+18G>T rs41323746 0.00126
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.513C>T (p.Asp171=) rs17289686 0.00036
NM_005228.5(EGFR):c.769G>A (p.Glu257Lys) rs138847501 0.00035
NM_005228.5(EGFR):c.3629C>T (p.Ala1210Val) rs35918369 0.00034
NM_005228.5(EGFR):c.2355C>T (p.Thr785=) rs148188503 0.00033
NM_005228.5(EGFR):c.3225C>T (p.Gly1075=) rs140117937 0.00032
NM_005228.5(EGFR):c.241-8C>G rs138872748 0.00031
NM_005228.5(EGFR):c.354C>T (p.Ala118=) rs147726446 0.00029
NM_005228.5(EGFR):c.2543C>T (p.Pro848Leu) rs148934350 0.00026
NM_005228.5(EGFR):c.2024G>A (p.Arg675Gln) rs150423237 0.00025
NM_005228.5(EGFR):c.844G>A (p.Glu282Lys) rs199796955 0.00022
NM_005228.5(EGFR):c.2469+19T>C rs199585163 0.00021
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.61G>A (p.Ala21Thr) rs373129709 0.00011
NM_005228.5(EGFR):c.1851C>T (p.Cys617=) rs143422127 0.00010
NM_005228.5(EGFR):c.2457G>A (p.Val819=) rs56183713 0.00010
NM_005228.5(EGFR):c.2304C>T (p.Ser768=) rs778199483 0.00009
NM_005228.5(EGFR):c.2885G>A (p.Arg962His) rs144496976 0.00009
NM_005228.5(EGFR):c.293G>A (p.Arg98Gln) rs17289589 0.00009
NM_005228.5(EGFR):c.3087G>A (p.Thr1029=) rs141489713 0.00009
NM_005228.5(EGFR):c.1532C>A (p.Ser511Tyr) rs371114444 0.00007
NM_005228.5(EGFR):c.1774G>A (p.Val592Ile) rs144943614 0.00007
NM_005228.5(EGFR):c.2169C>T (p.Phe723=) rs370590012 0.00007
NM_005228.5(EGFR):c.2518G>A (p.Ala840Thr) rs143884981 0.00007
NM_005228.5(EGFR):c.2369C>T (p.Thr790Met) rs121434569 0.00006
NM_005228.5(EGFR):c.2019C>T (p.Ile673=) rs763193362 0.00005
NM_005228.5(EGFR):c.3603G>A (p.Ala1201=) rs202156403 0.00005
NM_005228.5(EGFR):c.1936A>C (p.Ile646Leu) rs140516819 0.00004
NM_005228.5(EGFR):c.1998C>G (p.Leu666=) rs779909747 0.00004
NM_005228.5(EGFR):c.2506C>T (p.Arg836Cys) rs374952732 0.00004
NM_005228.5(EGFR):c.2710G>A (p.Val904Ile) rs538497054 0.00004
NM_005228.5(EGFR):c.768C>T (p.Asp256=) rs146098757 0.00004
NM_005228.5(EGFR):c.2259G>A (p.Pro753=) rs764064214 0.00003
NM_005228.5(EGFR):c.2946+20C>T rs746554400 0.00003
NM_005228.5(EGFR):c.3303C>G (p.Pro1101=) rs55796214 0.00003
NM_005228.5(EGFR):c.339C>T (p.Tyr113=) rs374582814 0.00003
NM_005228.5(EGFR):c.758A>G (p.Lys253Arg) rs374084791 0.00003
NM_005228.5(EGFR):c.21C>T (p.Ala7=) rs369581368 0.00002
NM_005228.5(EGFR):c.2463C>T (p.Ile821=) rs367859869 0.00002
NM_005228.5(EGFR):c.2464G>A (p.Ala822Thr) rs397517125 0.00002
NM_005228.5(EGFR):c.2655A>C (p.Ser885=) rs781112955 0.00002
NM_005228.5(EGFR):c.1512G>C (p.Gln504His) rs1188823834 0.00001
NM_005228.5(EGFR):c.1570G>A (p.Val524Ile) rs587778249 0.00001
NM_005228.5(EGFR):c.1671G>A (p.Gln557=) rs768735314 0.00001
NM_005228.5(EGFR):c.1728A>T (p.Pro576=) rs538447477 0.00001
NM_005228.5(EGFR):c.1938C>T (p.Ile646=) rs760450694 0.00001
NM_005228.5(EGFR):c.19G>C (p.Ala7Pro) rs761183109 0.00001
NM_005228.5(EGFR):c.2172C>T (p.Gly724=) rs754578411 0.00001
NM_005228.5(EGFR):c.2356G>A (p.Val786Met) rs762672864 0.00001
NM_005228.5(EGFR):c.2386G>A (p.Gly796Ser) rs754426793 0.00001
NM_005228.5(EGFR):c.2648T>C (p.Leu883Ser) rs1787457693 0.00001
NM_005228.5(EGFR):c.2702G>C (p.Gly901Ala) rs1009023863 0.00001
NM_005228.5(EGFR):c.30G>T (p.Ala10=) rs757936561 0.00001
NM_005228.5(EGFR):c.3143C>T (p.Ala1048Val) rs78244461 0.00001
NM_005228.5(EGFR):c.31C>T (p.Leu11Phe) rs1786369664 0.00001
NM_005228.5(EGFR):c.3352G>A (p.Ala1118Thr) rs770749711 0.00001
NM_005228.5(EGFR):c.525C>T (p.Asn175=) rs749002473 0.00001
NM_005228.5(EGFR):c.70G>A (p.Ala24Thr) rs911767401 0.00001
NM_005228.5(EGFR):c.730C>T (p.Arg244Trp) rs554981236 0.00001
NM_005228.5(EGFR):c.755G>A (p.Arg252His) rs760101437 0.00001
NM_005228.5(EGFR):c.988G>A (p.Glu330Lys) rs139429793 0.00001
NC_000007.14:g.55018796C>A rs17335710
NM_005228.5(EGFR):c.*294del
NM_005228.5(EGFR):c.*294dup rs5884404
NM_005228.5(EGFR):c.-216G>T rs712829
NM_005228.5(EGFR):c.1337C>T (p.Thr446Ile)
NM_005228.5(EGFR):c.1367T>C (p.Ile456Thr) rs1177337471
NM_005228.5(EGFR):c.1446G>A (p.Gly482=) rs1351950283
NM_005228.5(EGFR):c.1696G>A (p.Ala566Thr) rs2128944759
NM_005228.5(EGFR):c.1722+136G>T rs17290124
NM_005228.5(EGFR):c.1722+26G>A rs17290110
NM_005228.5(EGFR):c.1795G>A (p.Val599Ile) rs1785917504
NM_005228.5(EGFR):c.1880+77C>A rs41421952
NM_005228.5(EGFR):c.1881-226C>T rs17337009
NM_005228.5(EGFR):c.1881-2340A>T rs189248205
NM_005228.5(EGFR):c.1881-404T>G rs10277413
NM_005228.5(EGFR):c.1881-409G>A
NM_005228.5(EGFR):c.1881-615G>A rs17290225
NM_005228.5(EGFR):c.1881-658G>A
NM_005228.5(EGFR):c.1881-670T>G
NM_005228.5(EGFR):c.1881-726C>G
NM_005228.5(EGFR):c.1919+134T>G rs17290253
NM_005228.5(EGFR):c.1995C>T (p.Gly665=) rs1383165136
NM_005228.5(EGFR):c.2050C>G (p.Gln684Glu) rs2128952697
NM_005228.5(EGFR):c.2062-293G>A rs6952904
NM_005228.5(EGFR):c.2146A>G (p.Lys716Glu)
NM_005228.5(EGFR):c.2146_2159del (p.Lys716fs)
NM_005228.5(EGFR):c.2165C>T (p.Ala722Val)
NM_005228.5(EGFR):c.2185-214A>T rs17337128
NM_005228.5(EGFR):c.2192G>T (p.Trp731Leu)
NM_005228.5(EGFR):c.2223C>T (p.Pro741=) rs372772241
NM_005228.5(EGFR):c.2236_2250del (p.Glu746_Ala750del) rs727504233
NM_005228.5(EGFR):c.2259G>C (p.Pro753=)
NM_005228.5(EGFR):c.2293G>A (p.Val765Met) rs374873413
NM_005228.5(EGFR):c.2314C>G (p.Pro772Ala)
NM_005228.5(EGFR):c.2372A>G (p.Gln791Arg)
NM_005228.5(EGFR):c.241-265G>C rs17289575
NM_005228.5(EGFR):c.2453G>A (p.Cys818Tyr)
NM_005228.5(EGFR):c.2470-128A>G
NM_005228.5(EGFR):c.2496C>T (p.Arg832=)
NM_005228.5(EGFR):c.2508C>T (p.Arg836=) rs2229066
NM_005228.5(EGFR):c.250G>C (p.Glu84Gln) rs753319070
NM_005228.5(EGFR):c.2618G>A (p.Gly873Glu)
NM_005228.5(EGFR):c.2626-101G>C rs17337353
NM_005228.5(EGFR):c.2646A>T (p.Ala882=)
NM_005228.5(EGFR):c.2652A>G (p.Glu884=) rs1787457978
NM_005228.5(EGFR):c.2682G>C (p.Gln894His) rs749270913
NM_005228.5(EGFR):c.27A>C (p.Ala9=) rs1786368960
NM_005228.5(EGFR):c.2946+240C>G rs150947992
NM_005228.5(EGFR):c.2946+371G>A
NM_005228.5(EGFR):c.2947-128G>A rs17290692
NM_005228.5(EGFR):c.2963A>G (p.His988Arg) rs17290699
NM_005228.5(EGFR):c.2976T>C (p.Pro992=)
NM_005228.5(EGFR):c.3057A>C (p.Pro1019=)
NM_005228.5(EGFR):c.3110C>G (p.Ser1037Cys) rs765496858
NM_005228.5(EGFR):c.3114+14_3114+15insC rs2128971846
NM_005228.5(EGFR):c.3115-164T>G rs17337493
NM_005228.5(EGFR):c.3271+26C>T
NM_005228.5(EGFR):c.3401G>A (p.Gly1134Asp) rs865825533
NM_005228.5(EGFR):c.351T>A (p.Tyr117Ter)
NM_005228.5(EGFR):c.3613A>C (p.Ser1205Arg) rs2128975677
NM_005228.5(EGFR):c.425-113G>T rs17289665
NM_005228.5(EGFR):c.425-326A>G
NM_005228.5(EGFR):c.438C>T (p.Gly146=) rs199637112
NM_005228.5(EGFR):c.628+104C>T rs2075110
NM_005228.5(EGFR):c.628+235T>C rs6944695
NM_005228.5(EGFR):c.629-329del rs17289809
NM_005228.5(EGFR):c.629-330G>T rs41364648
NM_005228.5(EGFR):c.661G>A (p.Gly221Arg) rs776886714
NM_005228.5(EGFR):c.748-193G>T
NM_005228.5(EGFR):c.748-253C>G rs17289851
NM_005228.5(EGFR):c.828G>A (p.Gln276=) rs2128935031

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