ClinVar Miner

List of variants reported as uncertain significance for congenital non-bullous ichthyosiform erythroderma

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 239
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001374623.1(PNPLA1):c.1595+640G>A rs137961117 0.00484
NM_021628.3(ALOXE3):c.*514T>G rs80223722 0.00367
NM_021628.3(ALOXE3):c.*538G>A rs141745580 0.00267
NM_021628.3(ALOXE3):c.709T>A (p.Leu237Met) rs121434235 0.00230
NM_001139.3(ALOX12B):c.135T>C (p.Phe45=) rs117483056 0.00218
NM_021628.3(ALOXE3):c.*618T>C rs549813198 0.00208
NM_001139.3(ALOX12B):c.1394G>T (p.Gly465Val) rs145344421 0.00170
NM_021628.3(ALOXE3):c.2008C>T (p.Arg670Trp) rs141882639 0.00143
NM_001099287.2(NIPAL4):c.*730C>T rs549237990 0.00142
NM_001139.3(ALOX12B):c.-48C>A rs370936922 0.00118
NM_001099287.2(NIPAL4):c.335-9G>A rs200183918 0.00106
NM_021628.3(ALOXE3):c.1626G>A (p.Glu542=) rs139454209 0.00102
NM_001099287.2(NIPAL4):c.260C>T (p.Thr87Met) rs188020393 0.00101
NM_021628.3(ALOXE3):c.474C>T (p.Asp158=) rs113030871 0.00089
NM_001099287.2(NIPAL4):c.*742C>T rs528240529 0.00083
NM_001374623.1(PNPLA1):c.1343C>T (p.Ala448Val) rs141744967 0.00072
NM_001099287.2(NIPAL4):c.193C>T (p.Leu65=) rs374829524 0.00066
NM_021628.3(ALOXE3):c.1503G>C (p.Leu501=) rs145838099 0.00060
NM_001099287.2(NIPAL4):c.*1130C>T rs574842707 0.00058
NM_021628.3(ALOXE3):c.1305+12C>G rs754304050 0.00056
NM_001139.3(ALOX12B):c.526G>A (p.Glu176Lys) rs149039053 0.00049
NM_001099287.2(NIPAL4):c.*1603A>C rs555052598 0.00048
NM_021628.3(ALOXE3):c.1871C>T (p.Thr624Ile) rs146280032 0.00048
NM_001139.3(ALOX12B):c.-141C>T rs960349510 0.00040
NM_001099287.2(NIPAL4):c.919G>A (p.Val307Ile) rs137909022 0.00037
NM_021628.3(ALOXE3):c.-295T>C rs575913104 0.00034
NM_001099287.2(NIPAL4):c.*1347T>A rs567119200 0.00031
NM_021628.3(ALOXE3):c.1706C>A (p.Thr569Asn) rs142136672 0.00031
NM_021628.3(ALOXE3):c.1764C>T (p.His588=) rs144069104 0.00029
NM_001099287.2(NIPAL4):c.653G>A (p.Arg218His) rs200033975 0.00028
NM_001139.3(ALOX12B):c.528-8C>T rs200448967 0.00026
NM_001139.3(ALOX12B):c.*101A>G rs577124811 0.00025
NM_021628.3(ALOXE3):c.1017A>G (p.Leu339=) rs201870309 0.00025
NM_001374623.1(PNPLA1):c.87G>A (p.Ala29=) rs770164167 0.00024
NM_021628.3(ALOXE3):c.650C>T (p.Thr217Met) rs200646727 0.00024
NM_001099287.2(NIPAL4):c.*1069A>C rs544326627 0.00022
NM_001139.3(ALOX12B):c.1362+4A>C rs374549612 0.00021
NM_001374623.1(PNPLA1):c.845A>G (p.Glu282Gly) rs371888522 0.00021
NM_001374623.1(PNPLA1):c.1595+414C>T rs886061377 0.00019
NM_001099287.1(NIPAL4):c.-98C>T rs886766905 0.00017
NM_001099287.2(NIPAL4):c.*1679C>T rs886060349 0.00016
NM_001139.3(ALOX12B):c.1040C>T (p.Pro347Leu) rs145726040 0.00016
NM_001139.3(ALOX12B):c.144G>A (p.Gly48=) rs146260899 0.00016
NM_001099287.1(NIPAL4):c.-24C>A rs768159429 0.00015
NM_001099287.2(NIPAL4):c.*1492C>T rs538345909 0.00014
NM_001099287.2(NIPAL4):c.306T>C (p.Asp102=) rs201852049 0.00014
NM_001139.3(ALOX12B):c.1586G>A (p.Gly529Asp) rs145046775 0.00014
NM_001374623.1(PNPLA1):c.1299G>A (p.Gly433=) rs767322248 0.00014
NM_001374623.1(PNPLA1):c.1595+622G>A rs535470541 0.00014
NM_001374623.1(PNPLA1):c.372C>T (p.Leu124=) rs185312959 0.00014
NM_001374623.1(PNPLA1):c.813T>A (p.Ile271=) rs201231660 0.00014
NM_001139.3(ALOX12B):c.380C>T (p.Pro127Leu) rs141890029 0.00013
NM_001139.3(ALOX12B):c.1854G>T (p.Thr618=) rs542074777 0.00012
NM_001374623.1(PNPLA1):c.439-7C>T rs373711651 0.00012
NM_001374623.1(PNPLA1):c.1420G>A (p.Ala474Thr) rs139909055 0.00011
NM_021628.3(ALOXE3):c.1432A>C (p.Ser478Arg) rs368012174 0.00011
NM_173076.3(ABCA12):c.*522_*524dup rs535404027 0.00011
NM_001374623.1(PNPLA1):c.1062T>G (p.Pro354=) rs761075511 0.00010
NM_001374623.1(PNPLA1):c.1595+271C>T rs886061376 0.00010
NM_021628.3(ALOXE3):c.414G>A (p.Arg138=) rs201269701 0.00010
NM_001099287.2(NIPAL4):c.*290G>A rs377678793 0.00009
NM_001099287.2(NIPAL4):c.587-5C>A rs200497471 0.00009
NM_001139.3(ALOX12B):c.1050G>A (p.Lys350=) rs144280751 0.00009
NM_021628.3(ALOXE3):c.412C>T (p.Arg138Trp) rs765090449 0.00009
NM_001139.3(ALOX12B):c.48G>A (p.Ser16=) rs149687727 0.00008
NM_021628.3(ALOXE3):c.*344C>T rs556261209 0.00008
NM_021628.3(ALOXE3):c.*466G>A rs533827834 0.00008
NM_021628.3(ALOXE3):c.1101+9G>A rs758641318 0.00008
NM_001139.3(ALOX12B):c.-199G>A rs886053576 0.00007
NM_021628.3(ALOXE3):c.*262C>T rs180740798 0.00007
NM_021628.3(ALOXE3):c.1486C>T (p.Arg496Trp) rs867780319 0.00007
NM_001099287.2(NIPAL4):c.*23G>A rs371793304 0.00006
NM_001099287.2(NIPAL4):c.*445T>C rs530832561 0.00006
NM_001099287.2(NIPAL4):c.*992C>A rs886060345 0.00006
NM_001099287.2(NIPAL4):c.277+5G>A rs376074083 0.00006
NM_001139.3(ALOX12B):c.-212C>T rs886053578 0.00006
NM_001139.3(ALOX12B):c.1497C>T (p.Arg499=) rs371016744 0.00006
NM_001139.3(ALOX12B):c.1756-9C>T rs886053562 0.00006
NM_001374623.1(PNPLA1):c.235G>A (p.Val79Met) rs572438037 0.00006
NM_001374623.1(PNPLA1):c.744C>T (p.Tyr248=) rs139173161 0.00006
NM_001374623.1(PNPLA1):c.953G>A (p.Gly318Glu) rs143843185 0.00006
NM_021628.3(ALOXE3):c.1555A>G (p.Ile519Val) rs772608978 0.00006
NM_001139.3(ALOX12B):c.754+14C>G rs776236537 0.00005
NM_021628.3(ALOXE3):c.1365G>A (p.Leu455=) rs757010758 0.00005
NM_001099287.2(NIPAL4):c.*1248C>T rs143157684 0.00004
NM_001099287.2(NIPAL4):c.1104G>A (p.Pro368=) rs371736153 0.00004
NM_001139.3(ALOX12B):c.1532+15G>T rs370664817 0.00004
NM_001139.3(ALOX12B):c.163G>A (p.Val55Met) rs561140227 0.00004
NM_001374623.1(PNPLA1):c.934A>G (p.Lys312Glu) rs199548644 0.00004
NM_021628.3(ALOXE3):c.1107C>T (p.Ser369=) rs201706020 0.00004
NM_001139.3(ALOX12B):c.1276-13G>C rs370659573 0.00003
NM_001139.3(ALOX12B):c.1655-9G>A rs751773510 0.00003
NM_001139.3(ALOX12B):c.715A>G (p.Ile239Val) rs371937340 0.00003
NM_001374623.1(PNPLA1):c.159G>A (p.Ser53=) rs371283191 0.00003
NM_001374623.1(PNPLA1):c.228C>T (p.Asn76=) rs181087505 0.00003
NM_021628.3(ALOXE3):c.1542G>A (p.Lys514=) rs370462522 0.00003
NM_021628.3(ALOXE3):c.1696C>T (p.Arg566Trp) rs775786728 0.00003
NM_001099287.2(NIPAL4):c.408G>A (p.Ala136=) rs746660063 0.00002
NM_001139.3(ALOX12B):c.1541C>T (p.Thr514Met) rs766621071 0.00002
NM_001139.3(ALOX12B):c.1592C>T (p.Pro531Leu) rs769562383 0.00002
NM_001139.3(ALOX12B):c.2082G>T (p.Leu694=) rs748377475 0.00002
NM_001139.3(ALOX12B):c.434+11G>T rs780190851 0.00002
NM_001139.3(ALOX12B):c.561C>T (p.Leu187=) rs201081065 0.00002
NM_001374623.1(PNPLA1):c.438+10C>T rs886061373 0.00002
NM_001374623.1(PNPLA1):c.955G>A (p.Asp319Asn) rs182227800 0.00002
NM_001099287.1(NIPAL4):c.-121C>A rs1391976192 0.00001
NM_001099287.2(NIPAL4):c.*1394A>G rs886060347 0.00001
NM_001099287.2(NIPAL4):c.*568_*572dup rs886060343 0.00001
NM_001099287.2(NIPAL4):c.-71G>A rs759546301 0.00001
NM_001099287.2(NIPAL4):c.1103C>T (p.Pro368Leu) rs371714489 0.00001
NM_001099287.2(NIPAL4):c.253G>A (p.Val85Met) rs758037159 0.00001
NM_001099287.2(NIPAL4):c.265G>A (p.Ala89Thr) rs373963950 0.00001
NM_001099287.2(NIPAL4):c.311T>C (p.Met104Thr) rs748570297 0.00001
NM_001099287.2(NIPAL4):c.657C>T (p.Tyr219=) rs753530888 0.00001
NM_001099287.2(NIPAL4):c.990G>A (p.Ser330=) rs777285586 0.00001
NM_001139.3(ALOX12B):c.1126T>C (p.Trp376Arg) rs752051700 0.00001
NM_001139.3(ALOX12B):c.1325G>A (p.Arg442Gln) rs1028050037 0.00001
NM_001139.3(ALOX12B):c.1496G>A (p.Arg499His) rs768784091 0.00001
NM_001139.3(ALOX12B):c.1842C>T (p.Thr614=) rs761519997 0.00001
NM_001139.3(ALOX12B):c.1926+4C>T rs886053561 0.00001
NM_001139.3(ALOX12B):c.25G>A (p.Ala9Thr) rs1187233074 0.00001
NM_001139.3(ALOX12B):c.301G>A (p.Ala101Thr) rs200663524 0.00001
NM_001139.3(ALOX12B):c.567C>A (p.Asn189Lys) rs768113112 0.00001
NM_001374623.1(PNPLA1):c.1465G>A (p.Val489Ile) rs1327123712 0.00001
NM_001374623.1(PNPLA1):c.1469+10C>G rs373131816 0.00001
NM_001374623.1(PNPLA1):c.1595+550A>G rs373548589 0.00001
NM_001374623.1(PNPLA1):c.1595+842C>T rs759813381 0.00001
NM_001374623.1(PNPLA1):c.276G>A (p.Pro92=) rs749816424 0.00001
NM_001374623.1(PNPLA1):c.675C>T (p.Ile225=) rs886061374 0.00001
NM_001374623.1(PNPLA1):c.92C>T (p.Ala31Val) rs1231123861 0.00001
NM_021628.3(ALOXE3):c.*669T>G rs886053580 0.00001
NM_021628.3(ALOXE3):c.-247G>A rs1052642860 0.00001
NM_021628.3(ALOXE3):c.-260G>A rs886053584 0.00001
NM_021628.3(ALOXE3):c.-266C>A rs886053585 0.00001
NM_021628.3(ALOXE3):c.-337G>T rs886053586 0.00001
NM_021628.3(ALOXE3):c.148-3C>G rs1276024055 0.00001
NM_021628.3(ALOXE3):c.1598G>A (p.Ser533Asn) rs147748799 0.00001
NM_021628.3(ALOXE3):c.1684+5C>T rs763167274 0.00001
NM_021628.3(ALOXE3):c.1710A>G (p.Pro570=) rs199731680 0.00001
NM_021628.3(ALOXE3):c.222C>T (p.Tyr74=) rs572527913 0.00001
NM_021628.3(ALOXE3):c.715C>T (p.Arg239Cys) rs1046226453 0.00001
NM_021628.3(ALOXE3):c.853G>A (p.Val285Ile) rs774243681 0.00001
NM_021628.3(ALOXE3):c.951G>A (p.Glu317=) rs1980066150 0.00001
NM_001099287.1(NIPAL4):c.63G>A (p.Leu21=) rs886060336
NM_001099287.2(NIPAL4):c.*1208T>C rs1754520474
NM_001099287.2(NIPAL4):c.*135T>C rs1011045044
NM_001099287.2(NIPAL4):c.*1392GAA[1] rs886060346
NM_001099287.2(NIPAL4):c.*1494_*1499dup rs565912301
NM_001099287.2(NIPAL4):c.*1706C>A rs886060350
NM_001099287.2(NIPAL4):c.*227_*228delinsAG rs886060340
NM_001099287.2(NIPAL4):c.*385CCT[1] rs886060341
NM_001099287.2(NIPAL4):c.*405GTT[8] rs527401652
NM_001099287.2(NIPAL4):c.*576G>C rs1754500956
NM_001099287.2(NIPAL4):c.*874_*878del rs751375892
NM_001099287.2(NIPAL4):c.*903G>A rs148733170
NM_001099287.2(NIPAL4):c.*97A>G rs542842127
NM_001099287.2(NIPAL4):c.1057G>A (p.Ala353Thr) rs367993555
NM_001099287.2(NIPAL4):c.1057G>T (p.Ala353Ser) rs367993555
NM_001099287.2(NIPAL4):c.145A>C (p.Arg49=) rs886060337
NM_001099287.2(NIPAL4):c.293G>T (p.Gly98Val) rs1754294654
NM_001099287.2(NIPAL4):c.501C>G (p.Ala167=) rs375721791
NM_001099287.2(NIPAL4):c.783C>A (p.His261Gln) rs886060338
NM_001099287.2(NIPAL4):c.828C>T (p.Ser276=) rs886060339
NM_001099287.2(NIPAL4):c.859G>C (p.Asp287His) rs2113670374
NM_001099287.2(NIPAL4):c.872C>T (p.Thr291Ile) rs772312298
NM_001139.3(ALOX12B):c.*118dup rs558690816
NM_001139.3(ALOX12B):c.-110C>A rs886053574
NM_001139.3(ALOX12B):c.-157C>T rs886053575
NM_001139.3(ALOX12B):c.-201C>G rs886053577
NM_001139.3(ALOX12B):c.-2C>T rs1978306048
NM_001139.3(ALOX12B):c.1004A>G (p.His335Arg) rs886053565
NM_001139.3(ALOX12B):c.1015C>G (p.Pro339Ala) rs1977158385
NM_001139.3(ALOX12B):c.1101C>T (p.Pro367=) rs753070490
NM_001139.3(ALOX12B):c.1144A>G (p.Lys382Glu) rs1567981916
NM_001139.3(ALOX12B):c.1214T>G (p.Ile405Ser) rs369593974
NM_001139.3(ALOX12B):c.1235C>A (p.Ala412Asp)
NM_001139.3(ALOX12B):c.1349G>T (p.Gly450Val) rs772257172
NM_001139.3(ALOX12B):c.1408G>T (p.Ala470Ser) rs1977079586
NM_001139.3(ALOX12B):c.1413G>A (p.Leu471=) rs886053564
NM_001139.3(ALOX12B):c.1460A>G (p.Glu487Gly) rs1335655652
NM_001139.3(ALOX12B):c.147+13G>A rs1978304239
NM_001139.3(ALOX12B):c.1570G>A (p.Asp524Asn) rs886053563
NM_001139.3(ALOX12B):c.1577C>A (p.Ala526Asp) rs1977064087
NM_001139.3(ALOX12B):c.1609G>A (p.Val537Met) rs962267153
NM_001139.3(ALOX12B):c.1926+9C>T rs762902391
NM_001139.3(ALOX12B):c.1958T>G (p.Phe653Cys) rs1598176834
NM_001139.3(ALOX12B):c.1966G>A (p.Glu656Lys) rs1357604679
NM_001139.3(ALOX12B):c.228C>A (p.Phe76Leu) rs1978297242
NM_001139.3(ALOX12B):c.235A>T (p.Lys79Ter) rs1567985312
NM_001139.3(ALOX12B):c.345G>T (p.Glu115Asp) rs368442508
NM_001139.3(ALOX12B):c.39C>T (p.Asp13=) rs201251213
NM_001139.3(ALOX12B):c.46_48del (p.Ser16del) rs886053573
NM_001139.3(ALOX12B):c.628TTC[1] (p.Phe211del) rs1026084346
NM_001139.3(ALOX12B):c.787T>C (p.Phe263Leu) rs1567982884
NM_001139.3(ALOX12B):c.830T>A (p.Ile277Asn) rs1977170764
NM_001139.3(ALOX12B):c.83G>A (p.Gly28Glu) rs1567985822
NM_001139.3(ALOX12B):c.927+5G>A rs933038014
NM_001139.3(ALOX12B):c.944T>C (p.Leu315Pro) rs1977160529
NM_001374623.1(PNPLA1):c.1328T>G (p.Leu443Arg) rs1771089963
NM_001374623.1(PNPLA1):c.1339C>T (p.Pro447Ser) rs1771090642
NM_001374623.1(PNPLA1):c.1489T>C (p.Ser497Pro)
NM_001374623.1(PNPLA1):c.1593G>T (p.Val531=) rs375901638
NM_001374623.1(PNPLA1):c.1595+777A>T rs1212752036
NM_001374623.1(PNPLA1):c.205+5G>A rs1561853887
NM_001374623.1(PNPLA1):c.231G>C (p.Val77=) rs1561864099
NM_001374623.1(PNPLA1):c.315C>T (p.Tyr105=) rs141261965
NM_001374623.1(PNPLA1):c.374C>A (p.Thr125Asn) rs1554137705
NM_001374623.1(PNPLA1):c.383C>A (p.Thr128Lys) rs140585347
NM_001374623.1(PNPLA1):c.439-6G>A rs201125928
NM_001374623.1(PNPLA1):c.487C>A (p.Pro163Thr)
NM_001374623.1(PNPLA1):c.488C>T (p.Pro163Leu)
NM_001374623.1(PNPLA1):c.555C>T (p.Thr185=) rs748310345
NM_001374623.1(PNPLA1):c.715-10C>T rs1770824903
NM_001374623.1(PNPLA1):c.889C>T (p.Leu297Phe) rs752011907
NM_001374623.1(PNPLA1):c.962G>A (p.Arg321Lys) rs886061375
NM_001378789.1(CERS3):c.530C>T (p.Ser177Phe) rs1178676096
NM_001378789.1(CERS3):c.632A>T (p.His211Leu)
NM_021628.3(ALOXE3):c.*161C>T rs745793871
NM_021628.3(ALOXE3):c.*222C>G rs886053583
NM_021628.3(ALOXE3):c.*314T>A rs886053582
NM_021628.3(ALOXE3):c.*481G>A rs1978528529
NM_021628.3(ALOXE3):c.*523A>G rs1978525756
NM_021628.3(ALOXE3):c.*641C>T rs886053581
NM_021628.3(ALOXE3):c.*654C>T rs971249277
NM_021628.3(ALOXE3):c.*693G>T rs886053579
NM_021628.3(ALOXE3):c.1499T>G (p.Val500Gly) rs1329512333
NM_021628.3(ALOXE3):c.1562+4_1562+5insCACCTCT rs2151837897
NM_021628.3(ALOXE3):c.1635C>T (p.Ala545=) rs963782279
NM_021628.3(ALOXE3):c.325T>C (p.Cys109Arg) rs1980627705
NM_021628.3(ALOXE3):c.34C>T (p.Pro12Ser) rs893544249
NM_021628.3(ALOXE3):c.584C>T (p.Pro195Leu) rs139573113
NM_021628.3(ALOXE3):c.680+1G>T rs764781178
NM_021628.3(ALOXE3):c.75_76insGAC (p.Thr25_Leu26insAsp) rs2151848449
NM_021628.3(ALOXE3):c.780G>A (p.Thr260=) rs148293767
NM_021628.3(ALOXE3):c.799C>T (p.His267Tyr) rs747460667
NM_173076.3(ABCA12):c.5381+11_5381+14del rs568420119
NM_173076.3(ABCA12):c.7240-17_7240-15del rs574161259
NM_173483.4(CYP4F22):c.*421dup rs886054265
NM_173483.4(CYP4F22):c.939+15_939+40delinsTGGAGGGTGGAGCCCTGCCTGGGA rs886054264

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.