ClinVar Miner

List of variants studied for neonatal inflammatory skin and bowel disease

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 545
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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.1498+22A>T rs1558544 0.68282
NM_003183.6(ADAM17):c.1824T>C (p.Ser608=) rs1048610 0.59724
NM_003183.6(ADAM17):c.1994-22A>C rs4622692 0.59579
NM_003183.6(ADAM17):c.*75G>A rs6705408 0.59493
NM_005228.5(EGFR):c.2361G>A (p.Gln787=) rs1050171 0.51617
NM_003183.6(ADAM17):c.1915-146C>T rs883399 0.51347
NM_005228.5(EGFR):c.474C>T (p.Asn158=) rs2072454 0.50662
NM_003183.6(ADAM17):c.2083-60A>G rs10495562 0.42096
NM_003183.6(ADAM17):c.1545-73G>A rs34367192 0.42092
NM_005228.5(EGFR):c.1887T>A (p.Thr629=) rs2227984 0.33239
NM_005228.5(EGFR):c.1562G>A (p.Arg521Lys) rs2227983 0.22212
NM_003183.6(ADAM17):c.604A>G (p.Arg202Gly) rs2230818 0.06968
NM_003183.6(ADAM17):c.1695T>C (p.Thr565=) rs56237316 0.01223
NM_003183.6(ADAM17):c.2240C>T (p.Ser747Leu) rs55796712 0.01113
NM_003183.6(ADAM17):c.2017G>A (p.Val673Ile) rs61754177 0.00673
NM_003183.6(ADAM17):c.844-5T>C rs201461814 0.00624
NM_003183.6(ADAM17):c.2243C>T (p.Ala748Val) rs79932015 0.00567
NM_003183.6(ADAM17):c.148A>G (p.Ile50Val) rs61754178 0.00443
NM_003183.6(ADAM17):c.2134-14C>T rs114255985 0.00387
NM_003183.6(ADAM17):c.484A>G (p.Lys162Glu) rs34431503 0.00362
NM_005228.5(EGFR):c.3485G>A (p.Ser1162Asn) rs41321844 0.00362
NM_003183.6(ADAM17):c.232C>G (p.His78Asp) rs77759270 0.00312
NM_003183.6(ADAM17):c.1471C>T (p.Pro491Ser) rs55937573 0.00085
NM_003183.6(ADAM17):c.435C>G (p.Ala145=) rs143124556 0.00075
NM_003183.6(ADAM17):c.178C>A (p.Leu60Ile) rs112594248 0.00071
NM_003183.6(ADAM17):c.2199C>G (p.Pro733=) rs148093044 0.00070
NM_003183.6(ADAM17):c.2073C>T (p.Val691=) rs34355677 0.00066
NM_003183.6(ADAM17):c.1544+15C>T rs549487601 0.00046
NM_003183.6(ADAM17):c.2134-11T>C rs79715435 0.00040
NM_005228.5(EGFR):c.769G>A (p.Glu257Lys) rs138847501 0.00035
NM_003183.6(ADAM17):c.1480A>G (p.Met494Val) rs1038962906 0.00034
NM_003183.6(ADAM17):c.81C>T (p.Gly27=) rs138046330 0.00034
NM_005228.5(EGFR):c.3629C>T (p.Ala1210Val) rs35918369 0.00034
NM_003183.6(ADAM17):c.451-20G>A rs190898474 0.00026
NM_005228.5(EGFR):c.2024G>A (p.Arg675Gln) rs150423237 0.00025
NM_003183.6(ADAM17):c.231-14G>A rs370060861 0.00024
NM_003183.6(ADAM17):c.53C>T (p.Pro18Leu) rs144458353 0.00020
NM_003183.6(ADAM17):c.1960G>A (p.Asp654Asn) rs758594009 0.00019
NM_003183.6(ADAM17):c.1970A>G (p.Asp657Gly) rs144657795 0.00019
NM_003183.6(ADAM17):c.362-6C>T rs552450601 0.00019
NM_005228.5(EGFR):c.1557G>T (p.Glu519Asp) rs116057045 0.00019
NM_005228.5(EGFR):c.968T>C (p.Val323Ala) rs367680488 0.00018
NM_003183.6(ADAM17):c.1995A>G (p.Gly665=) rs369229801 0.00016
NM_005228.5(EGFR):c.2996G>A (p.Arg999His) rs149248025 0.00015
NM_003183.6(ADAM17):c.2280C>T (p.Asp760=) rs371018540 0.00012
NM_003183.6(ADAM17):c.321C>T (p.Tyr107=) rs576734742 0.00012
NM_005228.5(EGFR):c.2491C>T (p.Arg831Cys) rs371228501 0.00012
NM_003183.6(ADAM17):c.46C>G (p.Leu16Val) rs768569416 0.00011
NM_005228.5(EGFR):c.1739T>C (p.Ile580Thr) rs761585117 0.00011
NM_003183.6(ADAM17):c.1317T>C (p.Ala439=) rs200399376 0.00009
NM_003183.6(ADAM17):c.2133+13T>C rs377163769 0.00009
NM_003183.6(ADAM17):c.619+7C>T rs200004510 0.00009
NM_003183.6(ADAM17):c.70C>G (p.Pro24Ala) rs748048199 0.00009
NM_005228.5(EGFR):c.2885G>A (p.Arg962His) rs144496976 0.00009
NM_003183.6(ADAM17):c.1894G>A (p.Val632Ile) rs371598292 0.00008
NM_003183.6(ADAM17):c.204A>G (p.Thr68=) rs567931151 0.00008
NM_003183.6(ADAM17):c.2078G>A (p.Cys693Tyr) rs375942302 0.00008
NM_003183.6(ADAM17):c.97+18T>C rs375582202 0.00008
NM_005228.5(EGFR):c.493C>T (p.Arg165Trp) rs587778252 0.00008
NM_003183.6(ADAM17):c.2174G>A (p.Arg725His) rs147275585 0.00007
NM_003183.6(ADAM17):c.536A>G (p.Gln179Arg) rs139401611 0.00007
NM_003183.6(ADAM17):c.958-13_958-12insTG rs746257518 0.00007
NM_005228.5(EGFR):c.2180A>G (p.Tyr727Cys) rs138240620 0.00007
NM_005228.5(EGFR):c.2518G>A (p.Ala840Thr) rs143884981 0.00007
NM_003183.6(ADAM17):c.1344+14G>A rs370991762 0.00006
NM_003183.6(ADAM17):c.1372A>G (p.Ile458Val) rs143293318 0.00006
NM_003183.6(ADAM17):c.1531G>A (p.Gly511Ser) rs554069834 0.00006
NM_003183.6(ADAM17):c.1602C>T (p.Cys534=) rs757833957 0.00006
NM_003183.6(ADAM17):c.1684G>A (p.Glu562Lys) rs549183501 0.00006
NM_003183.6(ADAM17):c.1746C>T (p.Cys582=) rs748758847 0.00006
NM_003183.6(ADAM17):c.2127C>T (p.His709=) rs768383645 0.00006
NM_003183.6(ADAM17):c.2205T>G (p.Thr735=) rs374390369 0.00006
NM_003183.6(ADAM17):c.2388G>A (p.Thr796=) rs149361049 0.00006
NM_003183.6(ADAM17):c.2396C>T (p.Pro799Leu) rs747645870 0.00006
NM_003183.6(ADAM17):c.450+18T>G rs780179175 0.00006
NM_003183.6(ADAM17):c.64G>T (p.Asp22Tyr) rs146033784 0.00006
NM_003183.6(ADAM17):c.777T>C (p.Asp259=) rs146893995 0.00006
NM_003183.6(ADAM17):c.89A>G (p.Gln30Arg) rs775793715 0.00006
NM_005228.5(EGFR):c.2369C>T (p.Thr790Met) rs121434569 0.00006
NM_005228.5(EGFR):c.38C>T (p.Ala13Val) rs567894670 0.00006
NM_005228.5(EGFR):c.938C>T (p.Ala313Val) rs149321481 0.00006
NM_003183.6(ADAM17):c.1081C>T (p.His361Tyr) rs201481056 0.00005
NM_003183.6(ADAM17):c.1985A>G (p.Asn662Ser) rs140933944 0.00005
NM_003183.6(ADAM17):c.957+15C>G rs143463120 0.00005
NM_005228.5(EGFR):c.3572C>T (p.Thr1191Ile) rs372948989 0.00005
NM_005228.5(EGFR):c.434A>G (p.His145Arg) rs780476417 0.00005
NM_003183.6(ADAM17):c.1192-9A>T rs200534037 0.00004
NM_003183.6(ADAM17):c.1333G>A (p.Glu445Lys) rs764909573 0.00004
NM_003183.6(ADAM17):c.1345-3A>G rs377134738 0.00004
NM_003183.6(ADAM17):c.1511G>A (p.Ser504Asn) rs200446953 0.00004
NM_003183.6(ADAM17):c.161C>T (p.Ser54Leu) rs765820179 0.00004
NM_003183.6(ADAM17):c.1644C>T (p.Cys548=) rs762867130 0.00004
NM_003183.6(ADAM17):c.1685A>G (p.Glu562Gly) rs750249923 0.00004
NM_003183.6(ADAM17):c.1833T>C (p.Cys611=) rs200055210 0.00004
NM_003183.6(ADAM17):c.309C>T (p.Asn103=) rs761183996 0.00004
NM_003183.6(ADAM17):c.462A>G (p.Arg154=) rs549352854 0.00004
NM_003183.6(ADAM17):c.644G>T (p.Arg215Ile) rs142946965 0.00004
NM_003183.6(ADAM17):c.97+8C>T rs981616407 0.00004
NM_005228.5(EGFR):c.1900G>A (p.Glu634Lys) rs765068810 0.00004
NM_005228.5(EGFR):c.1936A>C (p.Ile646Leu) rs140516819 0.00004
NM_005228.5(EGFR):c.3405C>A (p.Asn1135Lys) rs765499904 0.00004
NM_003183.6(ADAM17):c.1034T>C (p.Met345Thr) rs777632615 0.00003
NM_003183.6(ADAM17):c.1332C>T (p.His444=) rs756357298 0.00003
NM_003183.6(ADAM17):c.1520C>T (p.Thr507Met) rs780454096 0.00003
NM_003183.6(ADAM17):c.1632C>T (p.Gly544=) rs754676488 0.00003
NM_003183.6(ADAM17):c.2097T>A (p.Asp699Glu) rs765883520 0.00003
NM_003183.6(ADAM17):c.2196G>A (p.Ala732=) rs746436310 0.00003
NM_003183.6(ADAM17):c.2224G>A (p.Ala742Thr) rs761836949 0.00003
NM_003183.6(ADAM17):c.2244G>A (p.Ala748=) rs945619889 0.00003
NM_003183.6(ADAM17):c.2380G>A (p.Asp794Asn) rs749860291 0.00003
NM_003183.6(ADAM17):c.668A>G (p.Asn223Ser) rs758650568 0.00003
NM_005228.5(EGFR):c.1931C>T (p.Pro644Leu) rs770443325 0.00003
NM_003183.6(ADAM17):c.1299T>C (p.Tyr433=) rs747757837 0.00002
NM_003183.6(ADAM17):c.1417C>T (p.Arg473Cys) rs750951308 0.00002
NM_003183.6(ADAM17):c.162G>A (p.Ser54=) rs762599369 0.00002
NM_003183.6(ADAM17):c.1648+4C>T rs368540920 0.00002
NM_003183.6(ADAM17):c.1723G>C (p.Asp575His) rs767693528 0.00002
NM_003183.6(ADAM17):c.1784-19del rs754520514 0.00002
NM_003183.6(ADAM17):c.180A>G (p.Leu60=) rs776442513 0.00002
NM_003183.6(ADAM17):c.2003T>C (p.Leu668Ser) rs756429621 0.00002
NM_003183.6(ADAM17):c.207A>G (p.Leu69=) rs141846970 0.00002
NM_003183.6(ADAM17):c.2188T>C (p.Phe730Leu) rs372189309 0.00002
NM_003183.6(ADAM17):c.2326G>A (p.Gly776Arg) rs764293730 0.00002
NM_003183.6(ADAM17):c.2346C>T (p.Phe782=) rs201360504 0.00002
NM_003183.6(ADAM17):c.299A>T (p.Asp100Val) rs747536329 0.00002
NM_003183.6(ADAM17):c.408T>C (p.Val136=) rs538546425 0.00002
NM_003183.6(ADAM17):c.451-15T>C rs376334773 0.00002
NM_003183.6(ADAM17):c.958-8T>G rs777073815 0.00002
NM_005228.5(EGFR):c.1051A>G (p.Ile351Val) rs767790289 0.00002
NM_005228.5(EGFR):c.1913C>T (p.Thr638Met) rs571064657 0.00002
NM_003183.6(ADAM17):c.1066C>T (p.Pro356Ser) rs148983888 0.00001
NM_003183.6(ADAM17):c.1068C>T (p.Pro356=) rs750559090 0.00001
NM_003183.6(ADAM17):c.1083T>C (p.His361=) rs901073220 0.00001
NM_003183.6(ADAM17):c.110C>A (p.Ser37Tyr) rs771131237 0.00001
NM_003183.6(ADAM17):c.1118T>A (p.Val373Asp) rs781232281 0.00001
NM_003183.6(ADAM17):c.1120G>A (p.Gly374Arg) rs199755899 0.00001
NM_003183.6(ADAM17):c.1139T>C (p.Leu380Ser) rs1188689290 0.00001
NM_003183.6(ADAM17):c.1191+8_1191+20del rs780855948 0.00001
NM_003183.6(ADAM17):c.1203G>C (p.Leu401=) rs757397345 0.00001
NM_003183.6(ADAM17):c.1312A>G (p.Ile438Val) rs776562188 0.00001
NM_003183.6(ADAM17):c.1327G>A (p.Asp443Asn) rs777722013 0.00001
NM_003183.6(ADAM17):c.1344+6T>C rs752978791 0.00001
NM_003183.6(ADAM17):c.1404G>A (p.Glu468=) rs1416000636 0.00001
NM_003183.6(ADAM17):c.1413A>G (p.Gln471=) rs758941402 0.00001
NM_003183.6(ADAM17):c.143C>T (p.Ser48Phe) rs781773909 0.00001
NM_003183.6(ADAM17):c.1442C>T (p.Ser481Leu) rs760407268 0.00001
NM_003183.6(ADAM17):c.1510A>G (p.Ser504Gly) rs201743292 0.00001
NM_003183.6(ADAM17):c.1512C>T (p.Ser504=) rs1473249918 0.00001
NM_003183.6(ADAM17):c.1513G>A (p.Asp505Asn) rs372967979 0.00001
NM_003183.6(ADAM17):c.1610C>T (p.Ala537Val) rs749866093 0.00001
NM_003183.6(ADAM17):c.163G>T (p.Val55Leu) rs752745494 0.00001
NM_003183.6(ADAM17):c.1656C>T (p.Ser552=) rs913944425 0.00001
NM_003183.6(ADAM17):c.1667C>T (p.Pro556Leu) rs1394373815 0.00001
NM_003183.6(ADAM17):c.1729A>G (p.Lys577Glu) rs759653644 0.00001
NM_003183.6(ADAM17):c.1747G>A (p.Glu583Lys) rs780557617 0.00001
NM_003183.6(ADAM17):c.179T>C (p.Leu60Pro) rs1361814499 0.00001
NM_003183.6(ADAM17):c.1819C>G (p.Leu607Val) rs988994141 0.00001
NM_003183.6(ADAM17):c.183G>A (p.Gln61=) rs768531855 0.00001
NM_003183.6(ADAM17):c.192A>G (p.Thr64=) rs760623120 0.00001
NM_003183.6(ADAM17):c.1931G>A (p.Arg644Gln) rs777431052 0.00001
NM_003183.6(ADAM17):c.194A>G (p.His65Arg) rs774425802 0.00001
NM_003183.6(ADAM17):c.2031G>A (p.Leu677=) rs759960474 0.00001
NM_003183.6(ADAM17):c.2105A>G (p.Tyr702Cys) rs1662107386 0.00001
NM_003183.6(ADAM17):c.2133+7A>G rs760627744 0.00001
NM_003183.6(ADAM17):c.2134-12A>G rs1184205117 0.00001
NM_003183.6(ADAM17):c.2139C>T (p.Val713=) rs767287511 0.00001
NM_003183.6(ADAM17):c.2166A>G (p.Ala722=) rs961226647 0.00001
NM_003183.6(ADAM17):c.2172_2173insA (p.Arg725fs) rs1257938701 0.00001
NM_003183.6(ADAM17):c.2191C>T (p.Pro731Ser) rs889062988 0.00001
NM_003183.6(ADAM17):c.2195C>T (p.Ala732Val) rs181463078 0.00001
NM_003183.6(ADAM17):c.2213G>A (p.Arg738His) rs538865826 0.00001
NM_003183.6(ADAM17):c.230+17A>G rs371770705 0.00001
NM_003183.6(ADAM17):c.230+9A>G rs375542168 0.00001
NM_003183.6(ADAM17):c.2300G>A (p.Ser767Asn) rs751381392 0.00001
NM_003183.6(ADAM17):c.231-3C>T rs1394369977 0.00001
NM_003183.6(ADAM17):c.2319C>T (p.Asp773=) rs376241260 0.00001
NM_003183.6(ADAM17):c.2320G>A (p.Glu774Lys) rs753859098 0.00001
NM_003183.6(ADAM17):c.2389G>T (p.Asp797Tyr) rs1228003788 0.00001
NM_003183.6(ADAM17):c.2437C>T (p.Arg813Cys) rs764050476 0.00001
NM_003183.6(ADAM17):c.2438G>A (p.Arg813His) rs760757602 0.00001
NM_003183.6(ADAM17):c.2446C>T (p.Arg816Cys) rs752730764 0.00001
NM_003183.6(ADAM17):c.2452G>C (p.Asp818His) rs142315365 0.00001
NM_003183.6(ADAM17):c.255A>G (p.Ser85=) rs1270237828 0.00001
NM_003183.6(ADAM17):c.267T>C (p.Arg89=) rs770087502 0.00001
NM_003183.6(ADAM17):c.323C>A (p.Thr108Asn) rs752645542 0.00001
NM_003183.6(ADAM17):c.354C>T (p.His118=) rs373534760 0.00001
NM_003183.6(ADAM17):c.362-11T>C rs1664944582 0.00001
NM_003183.6(ADAM17):c.401A>C (p.Asp134Ala) rs770400357 0.00001
NM_003183.6(ADAM17):c.433G>A (p.Ala145Thr) rs777284700 0.00001
NM_003183.6(ADAM17):c.516C>A (p.Ile172=) rs1572939240 0.00001
NM_003183.6(ADAM17):c.530G>A (p.Arg177His) rs763442293 0.00001
NM_003183.6(ADAM17):c.652C>A (p.Pro218Thr) rs373192089 0.00001
NM_003183.6(ADAM17):c.654A>G (p.Pro218=) rs755105372 0.00001
NM_003183.6(ADAM17):c.672G>T (p.Thr224=) rs757777916 0.00001
NM_003183.6(ADAM17):c.754-6A>G rs757613548 0.00001
NM_003183.6(ADAM17):c.75C>T (p.Gly25=) rs1427275550 0.00001
NM_003183.6(ADAM17):c.773T>C (p.Val258Ala) rs994263495 0.00001
NM_003183.6(ADAM17):c.807T>C (p.Asn269=) rs200972600 0.00001
NM_003183.6(ADAM17):c.944A>G (p.Lys315Arg) rs1664294967 0.00001
NM_003183.6(ADAM17):c.94C>G (p.Leu32Val) rs779147649 0.00001
NM_003183.6(ADAM17):c.97+17G>C rs756580109 0.00001
NM_003183.6(ADAM17):c.975A>G (p.Ile325Met) rs1222914560 0.00001
NM_003183.6(ADAM17):c.980A>G (p.Glu327Gly) rs779424893 0.00001
NM_005228.5(EGFR):c.1333A>G (p.Ile445Val) rs372990493 0.00001
NM_005228.5(EGFR):c.1437A>C (p.Lys479Asn) rs768208443 0.00001
NM_005228.5(EGFR):c.1690C>T (p.Pro564Ser) rs773651001 0.00001
NM_005228.5(EGFR):c.2386G>A (p.Gly796Ser) rs754426793 0.00001
NM_005228.5(EGFR):c.2749G>A (p.Gly917Arg) rs775695605 0.00001
NM_005228.5(EGFR):c.292C>T (p.Arg98Ter) rs1794575659 0.00001
NM_005228.5(EGFR):c.3017A>C (p.Asp1006Ala) rs752859687 0.00001
NM_005228.5(EGFR):c.3034G>C (p.Asp1012His) rs1420841957 0.00001
NM_005228.5(EGFR):c.3409G>A (p.Glu1137Lys) rs780967013 0.00001
NM_005228.5(EGFR):c.3476A>G (p.Gln1159Arg) rs1179392671 0.00001
NM_005228.5(EGFR):c.534G>A (p.Met178Ile) rs745755245 0.00001
NM_005228.5(EGFR):c.8C>T (p.Pro3Leu) rs749433287 0.00001
NC_000002.11:g.(?_9645275)_(9650280_?)del
NC_000002.11:g.(?_9663358)_(9666393_?)del
NC_000002.12:g.(?_9490157)_(9555625_?)dup
NC_000002.12:g.(?_9509959)_(9510151_?)dup
NC_000002.12:g.9523337_9523340del
NM_003183.6(ADAM17):c.*61del rs3833563
NM_003183.6(ADAM17):c.1008C>T (p.His336=)
NM_003183.6(ADAM17):c.1014C>T (p.Phe338=)
NM_003183.6(ADAM17):c.1015dup (p.Thr339fs)
NM_003183.6(ADAM17):c.102G>A (p.Lys34=) rs1029893851
NM_003183.6(ADAM17):c.1055A>G (p.Tyr352Cys)
NM_003183.6(ADAM17):c.1093T>G (p.Cys365Gly)
NM_003183.6(ADAM17):c.1103-12T>C
NM_003183.6(ADAM17):c.1103-20_1103-19del
NM_003183.6(ADAM17):c.1110T>C (p.Tyr370=)
NM_003183.6(ADAM17):c.1114C>G (p.Pro372Ala) rs1226429049
NM_003183.6(ADAM17):c.1118T>G (p.Val373Gly)
NM_003183.6(ADAM17):c.1131T>C (p.Asn377=) rs2125017707
NM_003183.6(ADAM17):c.1132A>G (p.Ile378Val) rs1664137750
NM_003183.6(ADAM17):c.1133T>A (p.Ile378Asn)
NM_003183.6(ADAM17):c.1143T>C (p.Asn381=)
NM_003183.6(ADAM17):c.1146T>C (p.Ser382=)
NM_003183.6(ADAM17):c.1151del (p.Gly383_Leu384insTer)
NM_003183.6(ADAM17):c.1191+19A>G
NM_003183.6(ADAM17):c.1191+20A>G
NM_003183.6(ADAM17):c.1191+8C>T rs1407294788
NM_003183.6(ADAM17):c.1192-12A>G
NM_003183.6(ADAM17):c.1192-14G>T
NM_003183.6(ADAM17):c.1192-20T>G
NM_003183.6(ADAM17):c.1192-5dup rs374848572
NM_003183.6(ADAM17):c.1192-6C>T rs1663651943
NM_003183.6(ADAM17):c.1230T>C (p.Asn410=)
NM_003183.6(ADAM17):c.1239A>T (p.Ala413=)
NM_003183.6(ADAM17):c.1241A>T (p.Glu414Val) rs2125007795
NM_003183.6(ADAM17):c.1251G>A (p.Pro417=)
NM_003183.6(ADAM17):c.1254T>C (p.Asp418=)
NM_003183.6(ADAM17):c.126C>T (p.Tyr42=)
NM_003183.6(ADAM17):c.1274C>T (p.Pro425Leu) rs1663648695
NM_003183.6(ADAM17):c.1284C>T (p.Asp428=)
NM_003183.6(ADAM17):c.1300G>A (p.Val434Ile)
NM_003183.6(ADAM17):c.1305_1306del (p.Met435fs)
NM_003183.6(ADAM17):c.1331A>G (p.His444Arg) rs1558506921
NM_003183.6(ADAM17):c.1344+12T>G
NM_003183.6(ADAM17):c.1344+13C>T rs1332196544
NM_003183.6(ADAM17):c.1344+1G>A
NM_003183.6(ADAM17):c.1344+1G>T
NM_003183.6(ADAM17):c.1345-6C>G
NM_003183.6(ADAM17):c.1352C>G (p.Ser451Ter)
NM_003183.6(ADAM17):c.1365A>G (p.Lys455=) rs2124999329
NM_003183.6(ADAM17):c.139T>C (p.Leu47=) rs2125040844
NM_003183.6(ADAM17):c.13C>G (p.Leu5Val)
NM_003183.6(ADAM17):c.1401G>A (p.Gln467=)
NM_003183.6(ADAM17):c.1418G>A (p.Arg473His)
NM_003183.6(ADAM17):c.141A>G (p.Leu47=)
NM_003183.6(ADAM17):c.1467_1468del (p.Cys489_Asp490delinsTer) rs2124999155
NM_003183.6(ADAM17):c.1476C>T (p.Gly492=) rs2124999133
NM_003183.6(ADAM17):c.1477A>G (p.Ile493Val)
NM_003183.6(ADAM17):c.1483T>C (p.Tyr495His) rs1340914501
NM_003183.6(ADAM17):c.1494C>T (p.Asn498=)
NM_003183.6(ADAM17):c.1495G>A (p.Asp499Asn) rs774191569
NM_003183.6(ADAM17):c.1497C>T (p.Asp499=)
NM_003183.6(ADAM17):c.1521G>A (p.Thr507=)
NM_003183.6(ADAM17):c.1530A>G (p.Glu510=)
NM_003183.6(ADAM17):c.1544+2T>C
NM_003183.6(ADAM17):c.1545-14C>A rs2124991072
NM_003183.6(ADAM17):c.1545-7_1545-5del rs372560151
NM_003183.6(ADAM17):c.1568A>C (p.Lys523Thr)
NM_003183.6(ADAM17):c.1572C>T (p.Asn524=) rs1663048540
NM_003183.6(ADAM17):c.1573dup (p.Cys525fs)
NM_003183.6(ADAM17):c.1621A>G (p.Thr541Ala)
NM_003183.6(ADAM17):c.1631G>C (p.Gly544Ala)
NM_003183.6(ADAM17):c.1637C>T (p.Ser546Phe) rs2124990793
NM_003183.6(ADAM17):c.1643G>A (p.Cys548Tyr) rs1663042903
NM_003183.6(ADAM17):c.1645del (p.Thr549fs) rs1572897958
NM_003183.6(ADAM17):c.1649-17C>T
NM_003183.6(ADAM17):c.1649-3del
NM_003183.6(ADAM17):c.1649-4C>G
NM_003183.6(ADAM17):c.1649-8G>T
NM_003183.6(ADAM17):c.1658G>C (p.Ser553Thr) rs1662677874
NM_003183.6(ADAM17):c.165A>T (p.Val55=) rs1572957857
NM_003183.6(ADAM17):c.1673C>T (p.Pro558Leu) rs1662676771
NM_003183.6(ADAM17):c.1677A>C (p.Gly559=)
NM_003183.6(ADAM17):c.1695T>A (p.Thr565=)
NM_003183.6(ADAM17):c.1696G>T (p.Val566Phe)
NM_003183.6(ADAM17):c.1701C>T (p.Cys567=)
NM_003183.6(ADAM17):c.1718G>A (p.Cys573Tyr) rs1184105835
NM_003183.6(ADAM17):c.1735A>C (p.Ile579Leu)
NM_003183.6(ADAM17):c.1754A>T (p.Glu585Val)
NM_003183.6(ADAM17):c.1783+8del rs749034410
NM_003183.6(ADAM17):c.1784-16G>A
NM_003183.6(ADAM17):c.1784-17C>T
NM_003183.6(ADAM17):c.1784-20A>G
NM_003183.6(ADAM17):c.1784-4C>A rs1223292324
NM_003183.6(ADAM17):c.1793dup (p.Asn598fs) rs1662434135
NM_003183.6(ADAM17):c.180A>T (p.Leu60=)
NM_003183.6(ADAM17):c.1817A>C (p.Asp606Ala) rs1572880990
NM_003183.6(ADAM17):c.1829G>A (p.Arg610His) rs140536552
NM_003183.6(ADAM17):c.1830C>T (p.Arg610=) rs1572880905
NM_003183.6(ADAM17):c.1839C>T (p.Pro613=)
NM_003183.6(ADAM17):c.1844T>G (p.Val615Gly)
NM_003183.6(ADAM17):c.1845C>T (p.Val615=)
NM_003183.6(ADAM17):c.1846G>A (p.Asp616Asn)
NM_003183.6(ADAM17):c.1851T>C (p.Ala617=) rs1283515986
NM_003183.6(ADAM17):c.1860G>T (p.Lys620Asn)
NM_003183.6(ADAM17):c.1880G>A (p.Gly627Glu) rs2124966841
NM_003183.6(ADAM17):c.1902T>C (p.Phe634=)
NM_003183.6(ADAM17):c.1907A>G (p.Asp636Gly) rs1048485082
NM_003183.6(ADAM17):c.1908C>T (p.Asp636=)
NM_003183.6(ADAM17):c.1914+12T>G
NM_003183.6(ADAM17):c.1914+13G>T
NM_003183.6(ADAM17):c.1914+14T>G
NM_003183.6(ADAM17):c.1914+3_1914+6del rs769369491
NM_003183.6(ADAM17):c.1914+5G>A rs2124966714
NM_003183.6(ADAM17):c.1914+8T>C
NM_003183.6(ADAM17):c.1915-15_1915-14insA
NM_003183.6(ADAM17):c.1915-17_1915-14del
NM_003183.6(ADAM17):c.1915-21ATGT[3]
NM_003183.6(ADAM17):c.1915-9del
NM_003183.6(ADAM17):c.1915-9dup
NM_003183.6(ADAM17):c.1919A>T (p.Lys640Ile) rs1553356735
NM_003183.6(ADAM17):c.193C>T (p.His65Tyr) rs1292921269
NM_003183.6(ADAM17):c.1951C>T (p.Arg651Ter)
NM_003183.6(ADAM17):c.1965C>A (p.Phe655Leu)
NM_003183.6(ADAM17):c.1971C>T (p.Asp657=)
NM_003183.6(ADAM17):c.1975_1993+4del rs1662343008
NM_003183.6(ADAM17):c.1979G>A (p.Ser660Asn) rs2124963317
NM_003183.6(ADAM17):c.1980C>T (p.Ser660=)
NM_003183.6(ADAM17):c.1983C>T (p.Ile661=) rs2124963286
NM_003183.6(ADAM17):c.1993+18A>C
NM_003183.6(ADAM17):c.1993+4G>T rs376877494
NM_003183.6(ADAM17):c.1995A>T (p.Gly665=)
NM_003183.6(ADAM17):c.2010C>T (p.Asp670=) rs2124960239
NM_003183.6(ADAM17):c.2014A>G (p.Ile672Val) rs1298570790
NM_003183.6(ADAM17):c.2019T>C (p.Val673=)
NM_003183.6(ADAM17):c.2025T>C (p.Ser675=)
NM_003183.6(ADAM17):c.2028C>T (p.Val676=) rs2124960152
NM_003183.6(ADAM17):c.2043G>A (p.Leu681=) rs910439656
NM_003183.6(ADAM17):c.2049T>C (p.Phe683=)
NM_003183.6(ADAM17):c.205C>G (p.Leu69Val)
NM_003183.6(ADAM17):c.2082+10C>T rs1032188904
NM_003183.6(ADAM17):c.2082+11A>C
NM_003183.6(ADAM17):c.2082+12A>C
NM_003183.6(ADAM17):c.2082+20G>A rs2124959947
NM_003183.6(ADAM17):c.2082+4A>G
NM_003183.6(ADAM17):c.2083-12G>C rs994701272
NM_003183.6(ADAM17):c.2083-12_2083-11del
NM_003183.6(ADAM17):c.2083-18_2083-16del
NM_003183.6(ADAM17):c.2083-9del rs372459687
NM_003183.6(ADAM17):c.208C>T (p.Leu70=)
NM_003183.6(ADAM17):c.2113_2114del (p.Leu705fs)
NM_003183.6(ADAM17):c.2121G>C (p.Leu707=)
NM_003183.6(ADAM17):c.2122T>C (p.Phe708Leu)
NM_003183.6(ADAM17):c.2133+20G>T
NM_003183.6(ADAM17):c.2133+8T>C
NM_003183.6(ADAM17):c.2133+9A>G rs2124952025
NM_003183.6(ADAM17):c.2134-23_2134-20del rs761385025
NM_003183.6(ADAM17):c.2134-27CAAT[3] rs761385025
NM_003183.6(ADAM17):c.2136C>T (p.Asn712=)
NM_003183.6(ADAM17):c.2168C>T (p.Ser723Leu) rs144721235
NM_003183.6(ADAM17):c.2169G>A (p.Ser723=) rs1016756984
NM_003183.6(ADAM17):c.2169G>C (p.Ser723=) rs1016756984
NM_003183.6(ADAM17):c.2169_2178del (p.Val724fs) rs1662038678
NM_003183.6(ADAM17):c.218C>T (p.Ser73Leu) rs986450748
NM_003183.6(ADAM17):c.2191C>G (p.Pro731Ala) rs889062988
NM_003183.6(ADAM17):c.220G>A (p.Ala74Thr) rs2125040739
NM_003183.6(ADAM17):c.2212C>T (p.Arg738Cys) rs370064783
NM_003183.6(ADAM17):c.2214C>T (p.Arg738=)
NM_003183.6(ADAM17):c.2219_2220delinsCA (p.Gln740Pro)
NM_003183.6(ADAM17):c.2223T>C (p.Pro741=) rs200268337
NM_003183.6(ADAM17):c.2227C>G (p.Pro743Ala)
NM_003183.6(ADAM17):c.2237dup (p.Ser747fs) rs1662030392
NM_003183.6(ADAM17):c.2241G>A (p.Ser747=)
NM_003183.6(ADAM17):c.2242G>T (p.Ala748Ser) rs761025971
NM_003183.6(ADAM17):c.2248G>A (p.Ala750Thr) rs374624230
NM_003183.6(ADAM17):c.2251G>C (p.Ala751Pro) rs772616091
NM_003183.6(ADAM17):c.2256A>C (p.Pro752=)
NM_003183.6(ADAM17):c.2268C>G (p.His756Gln)
NM_003183.6(ADAM17):c.2284A>T (p.Ile762Phe) rs1558489720
NM_003183.6(ADAM17):c.2287C>T (p.Gln763Ter)
NM_003183.6(ADAM17):c.2288A>G (p.Gln763Arg) rs2124948504
NM_003183.6(ADAM17):c.228A>G (p.Lys76=)
NM_003183.6(ADAM17):c.230+13A>G
NM_003183.6(ADAM17):c.230+13A>T
NM_003183.6(ADAM17):c.230+4A>G rs755484483
NM_003183.6(ADAM17):c.2308T>C (p.Ser770Pro) rs1662022623
NM_003183.6(ADAM17):c.2308_2309del (p.Ser770fs)
NM_003183.6(ADAM17):c.230G>C (p.Arg77Thr) rs2125040735
NM_003183.6(ADAM17):c.2358C>T (p.Ser786=) rs2124948113
NM_003183.6(ADAM17):c.2383C>G (p.Leu795Val)
NM_003183.6(ADAM17):c.2390del (p.Asp797fs) rs2124947949
NM_003183.6(ADAM17):c.2397G>A (p.Pro799=)
NM_003183.6(ADAM17):c.2398G>T (p.Val800Phe) rs780850654
NM_003183.6(ADAM17):c.2411A>G (p.Glu804Gly)
NM_003183.6(ADAM17):c.2414dup (p.Ala806fs) rs2124947833
NM_003183.6(ADAM17):c.2416G>C (p.Ala806Pro) rs761391373
NM_003183.6(ADAM17):c.2416G>T (p.Ala806Ser) rs761391373
NM_003183.6(ADAM17):c.2425T>C (p.Phe809Leu) rs2124947759
NM_003183.6(ADAM17):c.243A>G (p.Leu81=)
NM_003183.6(ADAM17):c.2444A>G (p.Asn815Ser) rs2124947605
NM_003183.6(ADAM17):c.2445dup (p.Arg816fs) rs2124947599
NM_003183.6(ADAM17):c.2464_2466dup (p.Thr822dup) rs1662005144
NM_003183.6(ADAM17):c.2465_2466del (p.Thr822fs) rs1222616180
NM_003183.6(ADAM17):c.258T>C (p.Ser86=)
NM_003183.6(ADAM17):c.275A>C (p.Gln92Pro) rs2125035520
NM_003183.6(ADAM17):c.276A>C (p.Gln92His)
NM_003183.6(ADAM17):c.276A>G (p.Gln92=) rs1293860750
NM_003183.6(ADAM17):c.27C>A (p.Thr9=) rs757690124
NM_003183.6(ADAM17):c.27C>T (p.Thr9=) rs757690124
NM_003183.6(ADAM17):c.288C>G (p.Val96=)
NM_003183.6(ADAM17):c.289G>A (p.Val97Met) rs377513734
NM_003183.6(ADAM17):c.308dup (p.Asn103fs)
NM_003183.6(ADAM17):c.315C>T (p.Ser105=) rs552799044
NM_003183.6(ADAM17):c.316G>A (p.Glu106Lys) rs756840167
NM_003183.6(ADAM17):c.324T>C (p.Thr108=)
NM_003183.6(ADAM17):c.339C>G (p.Asp113Glu) rs1664974310
NM_003183.6(ADAM17):c.34G>C (p.Val12Leu) rs1186689463
NM_003183.6(ADAM17):c.361+13C>G
NM_003183.6(ADAM17):c.361+16G>T rs2125035383
NM_003183.6(ADAM17):c.361+17T>C rs191183953
NM_003183.6(ADAM17):c.361+19G>C
NM_003183.6(ADAM17):c.361+1G>C
NM_003183.6(ADAM17):c.362-16T>C
NM_003183.6(ADAM17):c.362-18T>C
NM_003183.6(ADAM17):c.362-19A>C rs565512166
NM_003183.6(ADAM17):c.362-19A>T rs565512166
NM_003183.6(ADAM17):c.362-9del rs769247529
NM_003183.6(ADAM17):c.362-9dup rs769247529
NM_003183.6(ADAM17):c.36T>A (p.Val12=)
NM_003183.6(ADAM17):c.373T>A (p.Ser125Thr) rs772557660
NM_003183.6(ADAM17):c.38C>T (p.Pro13Leu) rs1340974006
NM_003183.6(ADAM17):c.395G>A (p.Arg132Lys) rs935773047
NM_003183.6(ADAM17):c.42C>A (p.Phe14Leu) rs578189296
NM_003183.6(ADAM17):c.432G>C (p.Gly144=)
NM_003183.6(ADAM17):c.434C>A (p.Ala145Asp) rs1664940070
NM_003183.6(ADAM17):c.435C>T (p.Ala145=) rs143124556
NM_003183.6(ADAM17):c.43G>A (p.Val15Met)
NM_003183.6(ADAM17):c.446T>C (p.Ile149Thr) rs1664939081
NM_003183.6(ADAM17):c.450+17A>G rs751518092
NM_003183.6(ADAM17):c.450+7T>G
NM_003183.6(ADAM17):c.451-5T>G
NM_003183.6(ADAM17):c.460A>G (p.Arg154Gly) rs2125027565
NM_003183.6(ADAM17):c.470A>G (p.Asn157Ser) rs1664592938
NM_003183.6(ADAM17):c.478A>G (p.Lys160Glu) rs1664592673
NM_003183.6(ADAM17):c.492G>A (p.Met164Ile)
NM_003183.6(ADAM17):c.512A>T (p.Asp171Val)
NM_003183.6(ADAM17):c.514A>G (p.Ile172Val) rs1664590884
NM_003183.6(ADAM17):c.523G>A (p.Val175Ile)
NM_003183.6(ADAM17):c.529C>T (p.Arg177Cys) rs1204442125
NM_003183.6(ADAM17):c.535C>A (p.Gln179Lys) rs2125027503
NM_003183.6(ADAM17):c.558T>C (p.Tyr186=)
NM_003183.6(ADAM17):c.562A>G (p.Lys188Glu)
NM_003183.6(ADAM17):c.567G>A (p.Val189=) rs776034976
NM_003183.6(ADAM17):c.571A>C (p.Asn191His) rs2125027486
NM_003183.6(ADAM17):c.575A>G (p.Glu192Gly) rs2125027483
NM_003183.6(ADAM17):c.591A>C (p.Lys197Asn)
NM_003183.6(ADAM17):c.59C>G (p.Pro20Arg) rs749144062
NM_003183.6(ADAM17):c.603_606del (p.Asp201fs) rs387906866
NM_003183.6(ADAM17):c.60T>G (p.Pro20=)
NM_003183.6(ADAM17):c.619+14A>C
NM_003183.6(ADAM17):c.619+1del
NM_003183.6(ADAM17):c.61C>T (p.Pro21Ser)
NM_003183.6(ADAM17):c.620-17A>G
NM_003183.6(ADAM17):c.620-5A>G
NM_003183.6(ADAM17):c.631C>T (p.Arg211Ter)
NM_003183.6(ADAM17):c.661A>T (p.Met221Leu)
NM_003183.6(ADAM17):c.671C>T (p.Thr224Met) rs548923032
NM_003183.6(ADAM17):c.672G>A (p.Thr224=) rs757777916
NM_003183.6(ADAM17):c.678A>G (p.Lys226=)
NM_003183.6(ADAM17):c.705C>G (p.Phe235Leu) rs1553364641
NM_003183.6(ADAM17):c.72G>A (p.Pro24=) rs1476481051
NM_003183.6(ADAM17):c.738_740del (p.Thr248del) rs777536319
NM_003183.6(ADAM17):c.74G>A (p.Gly25Asp) rs2125049728
NM_003183.6(ADAM17):c.753+12del
NM_003183.6(ADAM17):c.753+14A>G
NM_003183.6(ADAM17):c.753+20T>C
NM_003183.6(ADAM17):c.754-20T>C
NM_003183.6(ADAM17):c.754-21_754-20del rs1558514870
NM_003183.6(ADAM17):c.754-4A>G rs2125023433
NM_003183.6(ADAM17):c.764T>C (p.Ile255Thr) rs2125023419
NM_003183.6(ADAM17):c.768C>A (p.Asp256Glu) rs2125023411
NM_003183.6(ADAM17):c.785A>G (p.Tyr262Cys) rs1664384427
NM_003183.6(ADAM17):c.796T>C (p.Ser266Pro) rs1664383899
NM_003183.6(ADAM17):c.843+10A>T
NM_003183.6(ADAM17):c.843+11A>G
NM_003183.6(ADAM17):c.843+15A>T
NM_003183.6(ADAM17):c.843+18T>C
NM_003183.6(ADAM17):c.843+4T>C
NM_003183.6(ADAM17):c.844-17_844-16delinsTT rs2125021221
NM_003183.6(ADAM17):c.844-4A>G
NM_003183.6(ADAM17):c.844-6G>A
NM_003183.6(ADAM17):c.851T>C (p.Ile284Thr) rs1664299326
NM_003183.6(ADAM17):c.867A>G (p.Gln289=) rs1553363787
NM_003183.6(ADAM17):c.869A>G (p.Glu290Gly)
NM_003183.6(ADAM17):c.870G>A (p.Glu290=)
NM_003183.6(ADAM17):c.873A>G (p.Val291=)
NM_003183.6(ADAM17):c.888G>A (p.Lys296=)
NM_003183.6(ADAM17):c.903A>G (p.Ala301=)
NM_003183.6(ADAM17):c.948G>A (p.Met316Ile) rs367951580
NM_003183.6(ADAM17):c.94C>T (p.Leu32Phe) rs779147649
NM_003183.6(ADAM17):c.958-13del rs34863481
NM_003183.6(ADAM17):c.958-20T>G
NM_003183.6(ADAM17):c.958-23_958-13del rs34863481
NM_003183.6(ADAM17):c.958-24_958-13del rs34863481
NM_003183.6(ADAM17):c.958-25_958-13del rs34863481
NM_003183.6(ADAM17):c.958-26_958-13del
NM_003183.6(ADAM17):c.958-34dup rs34863481
NM_003183.6(ADAM17):c.958-5C>A rs768984675
NM_003183.6(ADAM17):c.97+12G>A
NM_003183.6(ADAM17):c.97+15del
NM_003183.6(ADAM17):c.987_988dup (p.Ser330fs) rs1000050918
NM_005228.5(EGFR):c.1094T>A (p.Ile365Asn)
NM_005228.5(EGFR):c.1270G>A (p.Glu424Lys)
NM_005228.5(EGFR):c.1283G>A (p.Gly428Asp) rs606231253
NM_005228.5(EGFR):c.1288A>T (p.Thr430Ser) rs1785501999
NM_005228.5(EGFR):c.1513G>T (p.Val505Phe) rs2128942714
NM_005228.5(EGFR):c.1881-774G>A
NM_005228.5(EGFR):c.1881-778G>C
NM_005228.5(EGFR):c.1925A>G (p.Lys642Arg)
NM_005228.5(EGFR):c.2012G>A (p.Arg671His) rs1266662784
NM_005228.5(EGFR):c.2618G>A (p.Gly873Glu)
NM_005228.5(EGFR):c.2709_2710inv (p.Val904Ile)
NM_005228.5(EGFR):c.286G>A (p.Val96Met) rs1260357262
NM_005228.5(EGFR):c.3381C>G (p.Asp1127Glu)
NM_005228.5(EGFR):c.424+5G>A
NM_005228.5(EGFR):c.474C>A (p.Asn158Lys)
NM_005228.5(EGFR):c.676A>C (p.Lys226Gln) rs2128933753
NM_005228.5(EGFR):c.74T>C (p.Leu25Pro)
NM_005228.5(EGFR):c.818C>G (p.Thr273Ser) rs1785289358
NM_005228.5(EGFR):c.976T>A (p.Cys326Ser)

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