ClinVar Miner

List of variants in gene ADAM17 studied for Inflammatory skin and bowel disease, neonatal, 1

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Total variants: 228
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HGVS dbSNP gnomAD frequency
NM_003183.6(ADAM17):c.604A>G (p.Arg202Gly) rs2230818 0.06479
NM_003183.6(ADAM17):c.844-5T>C rs201461814 0.00601
NM_003183.6(ADAM17):c.148A>G (p.Ile50Val) rs61754178 0.00408
NM_003183.6(ADAM17):c.484A>G (p.Lys162Glu) rs34431503 0.00362
NM_003183.6(ADAM17):c.232C>G (p.His78Asp) rs77759270 0.00312
NM_003183.6(ADAM17):c.178C>A (p.Leu60Ile) rs112594248 0.00071
NM_003183.6(ADAM17):c.435C>G (p.Ala145=) rs143124556 0.00069
NM_003183.6(ADAM17):c.81C>T (p.Gly27=) rs138046330 0.00034
NM_003183.6(ADAM17):c.451-20G>A rs190898474 0.00026
NM_003183.6(ADAM17):c.231-14G>A rs370060861 0.00021
NM_003183.6(ADAM17):c.53C>T (p.Pro18Leu) rs144458353 0.00020
NM_003183.6(ADAM17):c.46C>G (p.Leu16Val) rs768569416 0.00011
NM_003183.6(ADAM17):c.619+7C>T rs200004510 0.00009
NM_003183.6(ADAM17):c.70C>G (p.Pro24Ala) rs748048199 0.00009
NM_003183.6(ADAM17):c.97+18T>C rs375582202 0.00008
NM_003183.6(ADAM17):c.89A>G (p.Gln30Arg) rs775793715 0.00007
NM_003183.6(ADAM17):c.958-13_958-12insTG rs746257518 0.00007
NM_003183.6(ADAM17):c.777T>C (p.Asp259=) rs146893995 0.00006
NM_003183.6(ADAM17):c.1081C>T (p.His361Tyr) rs201481056 0.00005
NM_003183.6(ADAM17):c.1103-12T>C rs1298415187 0.00005
NM_003183.6(ADAM17):c.362-6C>T rs552450601 0.00005
NM_003183.6(ADAM17):c.450+18T>G rs780179175 0.00005
NM_003183.6(ADAM17):c.644G>T (p.Arg215Ile) rs142946965 0.00005
NM_003183.6(ADAM17):c.64G>T (p.Asp22Tyr) rs146033784 0.00005
NM_003183.6(ADAM17):c.957+15C>G rs143463120 0.00005
NM_003183.6(ADAM17):c.97+8C>T rs981616407 0.00005
NM_003183.6(ADAM17):c.161C>T (p.Ser54Leu) rs765820179 0.00004
NM_003183.6(ADAM17):c.204A>G (p.Thr68=) rs567931151 0.00004
NM_003183.6(ADAM17):c.1191+20A>G rs537520574 0.00003
NM_003183.6(ADAM17):c.321C>T (p.Tyr107=) rs576734742 0.00003
NM_003183.6(ADAM17):c.536A>G (p.Gln179Arg) rs139401611 0.00003
NM_003183.6(ADAM17):c.591A>C (p.Lys197Asn) rs1035434679 0.00003
NM_003183.6(ADAM17):c.668A>G (p.Asn223Ser) rs758650568 0.00003
NM_003183.6(ADAM17):c.1034T>C (p.Met345Thr) rs777632615 0.00002
NM_003183.6(ADAM17):c.162G>A (p.Ser54=) rs762599369 0.00002
NM_003183.6(ADAM17):c.180A>G (p.Leu60=) rs776442513 0.00002
NM_003183.6(ADAM17):c.207A>G (p.Leu69=) rs141846970 0.00002
NM_003183.6(ADAM17):c.299A>T (p.Asp100Val) rs747536329 0.00002
NM_003183.6(ADAM17):c.309C>T (p.Asn103=) rs761183996 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.903A>G (p.Ala301=) rs371791651 0.00002
NM_003183.6(ADAM17):c.958-8T>G rs777073815 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.1120G>A (p.Gly374Arg) rs199755899 0.00001
NM_003183.6(ADAM17):c.1139T>C (p.Leu380Ser) rs1188689290 0.00001
NM_003183.6(ADAM17):c.1143T>C (p.Asn381=) rs754147588 0.00001
NM_003183.6(ADAM17):c.1146T>C (p.Ser382=) rs1347846023 0.00001
NM_003183.6(ADAM17):c.1191+8_1191+20del rs780855948 0.00001
NM_003183.6(ADAM17):c.13C>G (p.Leu5Val) rs945506316 0.00001
NM_003183.6(ADAM17):c.143C>T (p.Ser48Phe) rs781773909 0.00001
NM_003183.6(ADAM17):c.163G>T (p.Val55Leu) rs752745494 0.00001
NM_003183.6(ADAM17):c.179T>C (p.Leu60Pro) rs1361814499 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.194A>G (p.His65Arg) rs774425802 0.00001
NM_003183.6(ADAM17):c.208C>T (p.Leu70=) rs1034011607 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.231-3C>T rs1394369977 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.315C>T (p.Ser105=) rs552799044 0.00001
NM_003183.6(ADAM17):c.323C>A (p.Thr108Asn) rs752645542 0.00001
NM_003183.6(ADAM17):c.34G>C (p.Val12Leu) rs1186689463 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.362-16T>C rs1346304643 0.00001
NM_003183.6(ADAM17):c.362-18T>C rs1664944936 0.00001
NM_003183.6(ADAM17):c.401A>C (p.Asp134Ala) rs770400357 0.00001
NM_003183.6(ADAM17):c.42C>A (p.Phe14Leu) rs578189296 0.00001
NM_003183.6(ADAM17):c.433G>A (p.Ala145Thr) rs777284700 0.00001
NM_003183.6(ADAM17):c.462A>G (p.Arg154=) rs549352854 0.00001
NM_003183.6(ADAM17):c.492G>A (p.Met164Ile) rs374243206 0.00001
NM_003183.6(ADAM17):c.516C>A (p.Ile172=) rs1572939240 0.00001
NM_003183.6(ADAM17):c.523G>A (p.Val175Ile) rs1008756508 0.00001
NM_003183.6(ADAM17):c.529C>T (p.Arg177Cys) rs1204442125 0.00001
NM_003183.6(ADAM17):c.530G>A (p.Arg177His) rs763442293 0.00001
NM_003183.6(ADAM17):c.562A>G (p.Lys188Glu) rs761424749 0.00001
NM_003183.6(ADAM17):c.60T>G (p.Pro20=) rs1442391766 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.72G>A (p.Pro24=) rs1476481051 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.843+11A>G rs1469609141 0.00001
NM_003183.6(ADAM17):c.873A>G (p.Val291=) rs770336510 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+12G>A rs535917066 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_003183.6(ADAM17):c.987_988dup (p.Ser330fs) rs1000050918 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 rs1558514834
NM_003183.6(ADAM17):c.1008C>T (p.His336=)
NM_003183.6(ADAM17):c.1014C>T (p.Phe338=) rs2527328355
NM_003183.6(ADAM17):c.1015dup (p.Thr339fs) rs2527328347
NM_003183.6(ADAM17):c.102G>A (p.Lys34=) rs1029893851
NM_003183.6(ADAM17):c.1055A>G (p.Tyr352Cys) rs2527328204
NM_003183.6(ADAM17):c.1093T>G (p.Cys365Gly) rs2527328035
NM_003183.6(ADAM17):c.1103-20_1103-19del rs756115310
NM_003183.6(ADAM17):c.1110T>C (p.Tyr370=) rs2527327381
NM_003183.6(ADAM17):c.1114C>G (p.Pro372Ala) rs1226429049
NM_003183.6(ADAM17):c.1118T>A (p.Val373Asp) rs781232281
NM_003183.6(ADAM17):c.1118T>G (p.Val373Gly) rs781232281
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) rs942316087
NM_003183.6(ADAM17):c.1151del (p.Gly383_Leu384insTer) rs1249324100
NM_003183.6(ADAM17):c.1191+19A>G rs1664134769
NM_003183.6(ADAM17):c.1191+8C>T rs1407294788
NM_003183.6(ADAM17):c.126C>T (p.Tyr42=) rs1327534211
NM_003183.6(ADAM17):c.139T>C (p.Leu47=) rs2125040844
NM_003183.6(ADAM17):c.141A>G (p.Leu47=) rs756496579
NM_003183.6(ADAM17):c.165A>T (p.Val55=) rs1572957857
NM_003183.6(ADAM17):c.180A>T (p.Leu60=) rs776442513
NM_003183.6(ADAM17):c.193C>T (p.His65Tyr) rs1292921269
NM_003183.6(ADAM17):c.205C>G (p.Leu69Val) rs777902756
NM_003183.6(ADAM17):c.218C>T (p.Ser73Leu) rs986450748
NM_003183.6(ADAM17):c.220G>A (p.Ala74Thr) rs2125040739
NM_003183.6(ADAM17):c.228A>G (p.Lys76=) rs2527409226
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.230G>C (p.Arg77Thr) rs2125040735
NM_003183.6(ADAM17):c.243A>G (p.Leu81=)
NM_003183.6(ADAM17):c.258T>C (p.Ser86=) rs2527387811
NM_003183.6(ADAM17):c.275A>C (p.Gln92Pro) rs2125035520
NM_003183.6(ADAM17):c.276A>C (p.Gln92His) rs1293860750
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=) rs1558521994
NM_003183.6(ADAM17):c.289G>A (p.Val97Met) rs377513734
NM_003183.6(ADAM17):c.308dup (p.Asn103fs)
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.361+13C>G rs2527387189
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 rs772401511
NM_003183.6(ADAM17):c.361+1G>C rs2527387206
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.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) rs775086314
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 rs2527362372
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.512A>T (p.Asp171Val) rs2527362182
NM_003183.6(ADAM17):c.514A>G (p.Ile172Val) rs1664590884
NM_003183.6(ADAM17):c.535C>A (p.Gln179Lys) rs2125027503
NM_003183.6(ADAM17):c.558T>C (p.Tyr186=) rs2527361967
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.59C>G (p.Pro20Arg) rs749144062
NM_003183.6(ADAM17):c.603_606del (p.Asp201fs) rs387906866
NM_003183.6(ADAM17):c.619+14A>C rs1664586125
NM_003183.6(ADAM17):c.619+1del rs2527361700
NM_003183.6(ADAM17):c.61C>T (p.Pro21Ser) rs1377491129
NM_003183.6(ADAM17):c.620-17A>G
NM_003183.6(ADAM17):c.620-5A>G rs865800387
NM_003183.6(ADAM17):c.631C>T (p.Arg211Ter)
NM_003183.6(ADAM17):c.661A>T (p.Met221Leu) rs1391226371
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=) rs1312141669
NM_003183.6(ADAM17):c.705C>G (p.Phe235Leu) rs1553364641
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 rs2527347136
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.807T>C (p.Asn269=) rs200972600
NM_003183.6(ADAM17):c.843+10A>T rs1337943993
NM_003183.6(ADAM17):c.843+15A>T rs762694337
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 rs759498105
NM_003183.6(ADAM17):c.844-6G>A rs2527339210
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) rs2527339069
NM_003183.6(ADAM17):c.870G>A (p.Glu290=) rs1408035085
NM_003183.6(ADAM17):c.888G>A (p.Lys296=) rs1415492345
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 rs34863481
NM_003183.6(ADAM17):c.958-34dup rs34863481
NM_003183.6(ADAM17):c.958-5C>A rs768984675
NM_003183.6(ADAM17):c.97+15del rs1218624320

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