ClinVar Miner

List of variants reported as likely benign for neonatal inflammatory skin and bowel disease

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 231
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HGVS dbSNP gnomAD frequency
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.148A>G (p.Ile50Val) rs61754178 0.00443
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.2134-11T>C rs79715435 0.00040
NM_003183.6(ADAM17):c.231-14G>A rs370060861 0.00024
NM_003183.6(ADAM17):c.362-6C>T rs552450601 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_003183.6(ADAM17):c.2280C>T (p.Asp760=) rs371018540 0.00012
NM_003183.6(ADAM17):c.321C>T (p.Tyr107=) rs576734742 0.00012
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.204A>G (p.Thr68=) rs567931151 0.00008
NM_003183.6(ADAM17):c.97+18T>C rs375582202 0.00008
NM_003183.6(ADAM17):c.958-13_958-12insTG rs746257518 0.00007
NM_003183.6(ADAM17):c.1344+14G>A rs370991762 0.00006
NM_003183.6(ADAM17):c.1602C>T (p.Cys534=) rs757833957 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.450+18T>G rs780179175 0.00006
NM_003183.6(ADAM17):c.777T>C (p.Asp259=) rs146893995 0.00006
NM_003183.6(ADAM17):c.957+15C>G rs143463120 0.00005
NM_003183.6(ADAM17):c.1192-9A>T rs200534037 0.00004
NM_003183.6(ADAM17):c.1644C>T (p.Cys548=) rs762867130 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.97+8C>T rs981616407 0.00004
NM_003183.6(ADAM17):c.1332C>T (p.His444=) rs756357298 0.00003
NM_003183.6(ADAM17):c.1632C>T (p.Gly544=) rs754676488 0.00003
NM_003183.6(ADAM17):c.2196G>A (p.Ala732=) rs746436310 0.00003
NM_003183.6(ADAM17):c.2244G>A (p.Ala748=) rs945619889 0.00003
NM_003183.6(ADAM17):c.1299T>C (p.Tyr433=) rs747757837 0.00002
NM_003183.6(ADAM17):c.162G>A (p.Ser54=) rs762599369 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.207A>G (p.Leu69=) rs141846970 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_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.1191+8_1191+20del rs780855948 0.00001
NM_003183.6(ADAM17):c.1203G>C (p.Leu401=) rs757397345 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.1512C>T (p.Ser504=) rs1473249918 0.00001
NM_003183.6(ADAM17):c.1656C>T (p.Ser552=) rs913944425 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.2031G>A (p.Leu677=) rs759960474 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.230+17A>G rs371770705 0.00001
NM_003183.6(ADAM17):c.230+9A>G rs375542168 0.00001
NM_003183.6(ADAM17):c.2319C>T (p.Asp773=) rs376241260 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.354C>T (p.His118=) rs373534760 0.00001
NM_003183.6(ADAM17):c.362-11T>C rs1664944582 0.00001
NM_003183.6(ADAM17):c.516C>A (p.Ile172=) rs1572939240 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.807T>C (p.Asn269=) rs200972600 0.00001
NM_003183.6(ADAM17):c.97+17G>C rs756580109 0.00001
NM_003183.6(ADAM17):c.1008C>T (p.His336=)
NM_003183.6(ADAM17):c.1014C>T (p.Phe338=)
NM_003183.6(ADAM17):c.102G>A (p.Lys34=) rs1029893851
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.1131T>C (p.Asn377=) rs2125017707
NM_003183.6(ADAM17):c.1143T>C (p.Asn381=)
NM_003183.6(ADAM17):c.1146T>C (p.Ser382=)
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.1251G>A (p.Pro417=)
NM_003183.6(ADAM17):c.1254T>C (p.Asp418=)
NM_003183.6(ADAM17):c.1284C>T (p.Asp428=)
NM_003183.6(ADAM17):c.1344+12T>G
NM_003183.6(ADAM17):c.1344+13C>T rs1332196544
NM_003183.6(ADAM17):c.1345-6C>G
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.1401G>A (p.Gln467=)
NM_003183.6(ADAM17):c.141A>G (p.Leu47=)
NM_003183.6(ADAM17):c.1476C>T (p.Gly492=) rs2124999133
NM_003183.6(ADAM17):c.1494C>T (p.Asn498=)
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.1545-14C>A rs2124991072
NM_003183.6(ADAM17):c.1545-7_1545-5del rs372560151
NM_003183.6(ADAM17):c.1572C>T (p.Asn524=) rs1663048540
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.165A>T (p.Val55=) rs1572957857
NM_003183.6(ADAM17):c.1677A>C (p.Gly559=)
NM_003183.6(ADAM17):c.1695T>A (p.Thr565=)
NM_003183.6(ADAM17):c.1701C>T (p.Cys567=)
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.180A>T (p.Leu60=)
NM_003183.6(ADAM17):c.1830C>T (p.Arg610=) rs1572880905
NM_003183.6(ADAM17):c.1839C>T (p.Pro613=)
NM_003183.6(ADAM17):c.1845C>T (p.Val615=)
NM_003183.6(ADAM17):c.1851T>C (p.Ala617=) rs1283515986
NM_003183.6(ADAM17):c.1902T>C (p.Phe634=)
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+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.1971C>T (p.Asp657=)
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.2010C>T (p.Asp670=) rs2124960239
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.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.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.208C>T (p.Leu70=)
NM_003183.6(ADAM17):c.2121G>C (p.Leu707=)
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.2169G>A (p.Ser723=) rs1016756984
NM_003183.6(ADAM17):c.2169G>C (p.Ser723=) rs1016756984
NM_003183.6(ADAM17):c.2214C>T (p.Arg738=)
NM_003183.6(ADAM17):c.2223T>C (p.Pro741=) rs200268337
NM_003183.6(ADAM17):c.2241G>A (p.Ser747=)
NM_003183.6(ADAM17):c.2256A>C (p.Pro752=)
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.2358C>T (p.Ser786=) rs2124948113
NM_003183.6(ADAM17):c.2397G>A (p.Pro799=)
NM_003183.6(ADAM17):c.243A>G (p.Leu81=)
NM_003183.6(ADAM17):c.258T>C (p.Ser86=)
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.315C>T (p.Ser105=) rs552799044
NM_003183.6(ADAM17):c.324T>C (p.Thr108=)
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.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.36T>A (p.Val12=)
NM_003183.6(ADAM17):c.432G>C (p.Gly144=)
NM_003183.6(ADAM17):c.435C>T (p.Ala145=) rs143124556
NM_003183.6(ADAM17):c.450+17A>G rs751518092
NM_003183.6(ADAM17):c.450+7T>G
NM_003183.6(ADAM17):c.558T>C (p.Tyr186=)
NM_003183.6(ADAM17):c.567G>A (p.Val189=) rs776034976
NM_003183.6(ADAM17):c.60T>G (p.Pro20=)
NM_003183.6(ADAM17):c.619+14A>C
NM_003183.6(ADAM17):c.620-17A>G
NM_003183.6(ADAM17):c.620-5A>G
NM_003183.6(ADAM17):c.672G>A (p.Thr224=) rs757777916
NM_003183.6(ADAM17):c.678A>G (p.Lys226=)
NM_003183.6(ADAM17):c.72G>A (p.Pro24=) rs1476481051
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.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.844-17_844-16delinsTT rs2125021221
NM_003183.6(ADAM17):c.844-4A>G
NM_003183.6(ADAM17):c.867A>G (p.Gln289=) rs1553363787
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.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.958-5C>A rs768984675
NM_003183.6(ADAM17):c.97+12G>A
NM_005228.5(EGFR):c.2709_2710inv (p.Val904Ile)

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