ClinVar Miner

List of variants in gene NEBL studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 220
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HGVS dbSNP gnomAD frequency
NM_006393.3(NEBL):c.2869-232C>G rs2765844 0.98655
NM_006393.3(NEBL):c.153+66T>G rs788971 0.95593
NM_006393.3(NEBL):c.258+200C>T rs697161 0.89860
NM_006393.3(NEBL):c.369+81C>T rs703100 0.89640
NM_006393.3(NEBL):c.154-282T>A rs703102 0.88361
NM_006393.3(NEBL):c.684+101A>G rs2296609 0.74121
NM_006393.3(NEBL):c.799-247A>G rs1409272 0.66571
NM_006393.3(NEBL):c.799-97A>T rs1409273 0.58862
NM_006393.3(NEBL):c.798+58G>T rs4748729 0.56332
NM_006393.3(NEBL):c.2518+275A>G rs10828136 0.50610
NM_006393.3(NEBL):c.2612-181T>C rs3758601 0.48814
NM_006393.3(NEBL):c.2149-48T>A rs4748727 0.47211
NM_006393.3(NEBL):c.1869+44A>G rs1409348 0.46365
NM_006393.3(NEBL):c.2055+106G>A rs1006362 0.46359
NM_006393.3(NEBL):c.1777-140T>G rs10828139 0.32838
NM_006393.3(NEBL):c.2762-70G>A rs2296607 0.27310
NM_006393.3(NEBL):c.153+226C>T rs788970 0.25562
NM_006393.3(NEBL):c.1962+26T>A rs11012353 0.25343
NM_006393.3(NEBL):c.*221A>G rs2296613 0.24930
NM_006393.3(NEBL):c.1009-252T>A rs2274361 0.22473
NM_006393.3(NEBL):c.1228-103G>T rs2281881 0.21953
NM_006393.3(NEBL):c.799-145C>T rs703093 0.21297
NM_213569.2(NEBL):c.164+80C>T rs35856892 0.17625
NM_006393.3(NEBL):c.2868+31G>T rs2296606 0.14746
NM_006393.3(NEBL):c.370-90A>C rs16921213 0.11904
NM_006393.3(NEBL):c.2761+318C>T rs76261504 0.07638
NM_213569.2(NEBL):c.357+63863C>T rs12251227 0.07211
NM_213569.2(NEBL):c.357+63739C>T rs12251286 0.07209
NM_006393.3(NEBL):c.258+244T>C rs71578977 0.06900
NM_006393.3(NEBL):c.1338+80A>G rs41277368 0.06837
NM_213569.2(NEBL):c.357+285A>G rs12411671 0.06709
NM_006393.3(NEBL):c.2242-302G>T rs61146312 0.05724
NM_006393.3(NEBL):c.799-338T>G rs45513591 0.05697
NM_006393.3(NEBL):c.1962+213T>C rs75938474 0.05513
NM_006393.3(NEBL):c.1963-261A>G rs71578949 0.05312
NM_006393.3(NEBL):c.1962+279A>C rs74120668 0.04187
NM_006393.3(NEBL):c.369+266G>A rs16921225 0.03719
NM_006393.3(NEBL):c.1009-97C>T rs10160126 0.03532
NM_006393.3(NEBL):c.1008+76C>T rs41277372 0.03061
NM_213569.2(NEBL):c.250-215T>G rs73607559 0.03054
NM_213569.2(NEBL):c.-107G>T rs113394390 0.03009
NM_006393.3(NEBL):c.799-339A>G rs75391344 0.02500
NM_006393.3(NEBL):c.1449+158A>T rs12098681 0.02309
NM_213569.2(NEBL):c.357+64301C>G rs74960967 0.02087
NM_006393.3(NEBL):c.2149-186C>T rs12267369 0.01998
NM_006393.3(NEBL):c.1339-210T>C rs74120695 0.01861
NM_006393.3(NEBL):c.798+237G>T rs45586736 0.01795
NM_006393.3(NEBL):c.154-70T>A rs74123535 0.01676
NM_006393.3(NEBL):c.1671+288T>C rs113640261 0.01589
NM_006393.3(NEBL):c.582+171G>T rs11012367 0.01489
NM_213569.2(NEBL):c.250-231C>T rs11012421 0.01485
NM_006393.3(NEBL):c.2762-263T>A rs2296608 0.01475
NM_006393.3(NEBL):c.2762-296G>A rs115922291 0.01468
NM_006393.3(NEBL):c.2761+280T>A rs73607518 0.01410
NM_006393.3(NEBL):c.2611+87del rs145642401 0.01363
NM_006393.3(NEBL):c.2762-64T>A rs7101127 0.01312
NM_006393.3(NEBL):c.1962+203T>G rs112412623 0.01295
NM_006393.3(NEBL):c.2762-328A>C rs145715141 0.01220
NM_006393.3(NEBL):c.903+25C>T rs2281883 0.01163
NM_006393.3(NEBL):c.903+26G>A rs58005377 0.01130
NM_006393.3(NEBL):c.1227+79A>G rs12260966 0.00977
NM_006393.3(NEBL):c.1008+68C>T rs11012360 0.00975
NM_213569.2(NEBL):c.250-214A>G rs116187316 0.00914
NM_006393.3(NEBL):c.2242-278G>T rs77352066 0.00843
NM_006393.3(NEBL):c.1869+29T>C rs71578946 0.00823
NM_006393.3(NEBL):c.191A>G (p.Lys64Arg) rs71578975 0.00786
NM_006393.3(NEBL):c.2241+68C>T rs71578958 0.00773
NM_001377326.1(NEBL):c.-39-2001G>A rs73609218 0.00752
NM_006393.3(NEBL):c.1962+250G>A rs140434528 0.00734
NM_213569.2(NEBL):c.357T>C (p.Asn119=) rs115708584 0.00720
NM_213569.2(NEBL):c.69+282A>G rs373746635 0.00682
NM_006393.3(NEBL):c.2611+60G>A rs71578969 0.00627
NM_006393.3(NEBL):c.370-261G>A rs115523390 0.00582
NM_006393.3(NEBL):c.1963-98G>A rs141224763 0.00544
NM_006393.3(NEBL):c.799-252A>G rs71541568 0.00542
NM_006393.3(NEBL):c.370-228A>G rs71578981 0.00540
NM_006393.3(NEBL):c.258+183A>C rs144066723 0.00538
NM_006393.3(NEBL):c.1339-262A>G rs148765147 0.00537
NM_006393.3(NEBL):c.1560+75C>T rs71578942 0.00533
NM_006393.3(NEBL):c.2242-316C>G rs185746282 0.00507
NM_006393.3(NEBL):c.1672-54C>A rs115751438 0.00501
NM_006393.3(NEBL):c.1117-70C>G rs141306151 0.00478
NM_006393.3(NEBL):c.154-154T>C rs146260489 0.00477
NM_006393.3(NEBL):c.903+260C>T rs71524337 0.00476
NM_006393.3(NEBL):c.481-157A>C rs151106272 0.00455
NM_006393.3(NEBL):c.903+71A>G rs373462989 0.00426
NM_006393.3(NEBL):c.180G>C (p.Lys60Asn) rs41277374 0.00382
NM_006393.3(NEBL):c.2242-307G>A rs193128932 0.00381
NM_006393.3(NEBL):c.2242-250T>G rs147581181 0.00374
NM_006393.3(NEBL):c.1671+104A>G rs79358035 0.00351
NM_006393.3(NEBL):c.480+3A>G rs71578983 0.00336
NM_006393.3(NEBL):c.1449+190A>G rs71578941 0.00318
NM_006393.3(NEBL):c.1450-9T>G rs45628140 0.00280
NM_006393.3(NEBL):c.2654C>T (p.Ser885Phe) rs143584663 0.00245
NM_006393.3(NEBL):c.2346+44G>C rs71578962 0.00230
NM_006393.3(NEBL):c.1870-29T>G rs145229370 0.00220
NM_006393.3(NEBL):c.109T>C (p.Leu37=) rs140734883 0.00213
NM_006393.3(NEBL):c.154-49A>T rs77136151 0.00212
NM_006393.3(NEBL):c.604G>A (p.Gly202Arg) rs137973321 0.00210
NM_006393.3(NEBL):c.267C>G (p.Tyr89Ter) rs147622517 0.00154
NM_006393.3(NEBL):c.2482A>G (p.Ile828Val) rs143930021 0.00132
NM_006393.3(NEBL):c.624C>T (p.Pro208=) rs111854914 0.00124
NM_006393.3(NEBL):c.1008+28C>A rs181687672 0.00084
NM_006393.3(NEBL):c.1838G>A (p.Arg613Gln) rs151035799 0.00074
NM_006393.3(NEBL):c.994G>A (p.Val332Ile) rs150518045 0.00065
NM_006393.3(NEBL):c.2054C>T (p.Ala685Val) rs146218038 0.00051
NM_006393.3(NEBL):c.277A>G (p.Ile93Val) rs762884881 0.00044
NM_006393.3(NEBL):c.908A>G (p.Glu303Gly) rs139610204 0.00036
NM_006393.3(NEBL):c.827T>C (p.Met276Thr) rs141285752 0.00033
NM_006393.3(NEBL):c.682C>G (p.Gln228Glu) rs143644290 0.00030
NM_006393.3(NEBL):c.2673A>G (p.Thr891=) rs202127185 0.00022
NM_006393.3(NEBL):c.2964C>T (p.Asp988=) rs144946187 0.00022
NM_006393.3(NEBL):c.27A>C (p.Ile9=) rs536400111 0.00021
NM_006393.3(NEBL):c.82-4A>G rs368268112 0.00021
NM_006393.3(NEBL):c.2417C>T (p.Thr806Ile) rs200705273 0.00020
NM_006393.3(NEBL):c.1837C>T (p.Arg613Ter) rs146471913 0.00019
NM_006393.3(NEBL):c.2724A>T (p.Ser908=) rs146673676 0.00019
NM_006393.3(NEBL):c.369+5G>A rs200249470 0.00019
NM_006393.3(NEBL):c.69T>C (p.Asn23=) rs746405718 0.00019
NM_006393.3(NEBL):c.2307T>C (p.Ala769=) rs144815863 0.00018
NM_006393.3(NEBL):c.1302C>G (p.Ile434Met) rs202112717 0.00016
NM_006393.3(NEBL):c.2775C>T (p.Pro925=) rs199887353 0.00016
NM_006393.3(NEBL):c.1227+5G>A rs370026081 0.00014
NM_006393.3(NEBL):c.240C>T (p.Ile80=) rs727503337 0.00014
NM_006393.3(NEBL):c.214C>A (p.Pro72Thr) rs150000482 0.00012
NM_006393.3(NEBL):c.1652C>T (p.Thr551Ile) rs191012363 0.00009
NM_006393.3(NEBL):c.2889C>T (p.Tyr963=) rs202184399 0.00009
NM_006393.3(NEBL):c.1540G>T (p.Ala514Ser) rs781572930 0.00008
NM_006393.3(NEBL):c.1946A>G (p.Gln649Arg) rs770416802 0.00008
NM_006393.3(NEBL):c.1225G>A (p.Glu409Lys) rs767565380 0.00006
NM_006393.3(NEBL):c.1272A>G (p.Gly424=) rs727504866 0.00006
NM_006393.3(NEBL):c.1721T>C (p.Ile574Thr) rs754884291 0.00006
NM_006393.3(NEBL):c.1998G>A (p.Pro666=) rs761798662 0.00006
NM_006393.3(NEBL):c.326T>C (p.Ile109Thr) rs371620771 0.00006
NM_006393.3(NEBL):c.1077A>G (p.Ser359=) rs776764153 0.00005
NM_006393.3(NEBL):c.2406C>T (p.Asp802=) rs748203517 0.00005
NM_006393.3(NEBL):c.720G>A (p.Lys240=) rs746237029 0.00005
NM_006393.3(NEBL):c.792G>A (p.Ala264=) rs375771045 0.00005
NM_006393.3(NEBL):c.1108C>A (p.Gln370Lys) rs146198369 0.00004
NM_006393.3(NEBL):c.1227+4C>T rs373813159 0.00004
NM_006393.3(NEBL):c.1316G>A (p.Arg439Gln) rs755916272 0.00004
NM_006393.3(NEBL):c.1997C>T (p.Pro666Leu) rs771905060 0.00004
NM_006393.3(NEBL):c.2013G>A (p.Pro671=) rs781677922 0.00004
NM_006393.3(NEBL):c.2347-9C>T rs750957531 0.00004
NM_006393.3(NEBL):c.2612-27C>T rs568587887 0.00004
NM_006393.3(NEBL):c.311G>A (p.Arg104Gln) rs537661572 0.00004
NM_006393.3(NEBL):c.625G>A (p.Ala209Thr) rs142138590 0.00004
NM_006393.3(NEBL):c.872A>G (p.His291Arg) rs147853594 0.00004
NM_006393.3(NEBL):c.1639C>T (p.Arg547Ter) rs149647815 0.00003
NM_006393.3(NEBL):c.1776+10_1776+11insGCT rs752802559 0.00003
NM_006393.3(NEBL):c.1954A>C (p.Ile652Leu) rs200756166 0.00003
NM_006393.3(NEBL):c.2149-11T>C rs369297283 0.00003
NM_006393.3(NEBL):c.2644C>T (p.Arg882Ter) rs151012132 0.00003
NM_006393.3(NEBL):c.798+1G>A rs746179839 0.00003
NM_006393.3(NEBL):c.16T>C (p.Phe6Leu) rs777445403 0.00002
NM_006393.3(NEBL):c.1346A>G (p.Tyr449Cys) rs535927510 0.00001
NM_006393.3(NEBL):c.154-10T>C rs1057521303 0.00001
NM_006393.3(NEBL):c.1608G>T (p.Met536Ile) rs794729078 0.00001
NM_006393.3(NEBL):c.1613T>A (p.Val538Glu) rs534382445 0.00001
NM_006393.3(NEBL):c.1776G>A (p.Ala592=) rs113406843 0.00001
NM_006393.3(NEBL):c.2547C>T (p.Gly849=) rs180850975 0.00001
NM_006393.3(NEBL):c.2704G>A (p.Glu902Lys) rs761425280 0.00001
NM_006393.3(NEBL):c.2914G>A (p.Glu972Lys) rs1554769095 0.00001
NM_006393.3(NEBL):c.676T>C (p.Ser226Pro) rs768861339 0.00001
NM_006393.3(NEBL):c.738C>T (p.Tyr246=) rs778455217 0.00001
NM_006393.3(NEBL):c.900C>T (p.Ser300=) rs1476548617 0.00001
GRCh37/hg19 10p12.31(chr10:20648237-21129533)x3
GRCh37/hg19 10p12.31(chr10:21159723-21284409)x3
GRCh37/hg19 10p12.31(chr10:21164208-21184413)x3
NM_006393.3(NEBL):c.1008+33del rs3831100
NM_006393.3(NEBL):c.1119A>G (p.Lys373=) rs1381516485
NM_006393.3(NEBL):c.1156dup (p.Arg386fs) rs1554784067
NM_006393.3(NEBL):c.1174G>A (p.Asp392Asn) rs1588767821
NM_006393.3(NEBL):c.1365_1366del (p.Ile456fs) rs1554781158
NM_006393.3(NEBL):c.1377G>T (p.Gly459=) rs1310607610
NM_006393.3(NEBL):c.1475C>G (p.Thr492Ser) rs1299663441
NM_006393.3(NEBL):c.1640G>A (p.Arg547Gln) rs747238199
NM_006393.3(NEBL):c.1671+261_1671+262dup rs371760760
NM_006393.3(NEBL):c.1671+261_1671+263dup rs371760760
NM_006393.3(NEBL):c.1671+261_1671+264dup rs371760760
NM_006393.3(NEBL):c.1671+279_1671+283dup rs371760760
NM_006393.3(NEBL):c.1671+283del rs371760760
NM_006393.3(NEBL):c.1672-133_1672-132insCC rs35213426
NM_006393.3(NEBL):c.1672-149CT[10] rs10631047
NM_006393.3(NEBL):c.1775C>A (p.Ala592Glu) rs146275785
NM_006393.3(NEBL):c.1775C>T (p.Ala592Val) rs146275785
NM_006393.3(NEBL):c.1790A>C (p.Lys597Thr)
NM_006393.3(NEBL):c.1827A>G (p.Pro609=) rs1588701613
NM_006393.3(NEBL):c.1963-216CAA[7] rs143964236
NM_006393.3(NEBL):c.2241+1G>A
NM_006393.3(NEBL):c.2271G>A (p.Met757Ile) rs794729079
NM_006393.3(NEBL):c.2519-209G>T rs80182205
NM_006393.3(NEBL):c.2519-2del rs754453916
NM_006393.3(NEBL):c.259-21del rs67288319
NM_006393.3(NEBL):c.2612-6A>G rs377317796
NM_006393.3(NEBL):c.2761+160dup rs1187450894
NM_006393.3(NEBL):c.2761+227C>G rs10828135
NM_006393.3(NEBL):c.2762-279del rs3215820
NM_006393.3(NEBL):c.2762-48G>C rs2697027
NM_006393.3(NEBL):c.2762-7C>T rs1588590374
NM_006393.3(NEBL):c.276del (p.Ile93fs) rs1554799292
NM_006393.3(NEBL):c.294T>A (p.Ser98=) rs771269408
NM_006393.3(NEBL):c.348dup (p.Val117fs) rs1356025751
NM_006393.3(NEBL):c.370-264del rs370456204
NM_006393.3(NEBL):c.383A>G (p.Gln128Arg) rs139809958
NM_006393.3(NEBL):c.383A>T (p.Gln128Leu) rs139809958
NM_006393.3(NEBL):c.480+10C>A rs377230358
NM_006393.3(NEBL):c.583-70del rs5783755
NM_006393.3(NEBL):c.583-84_583-81del rs201628197
NM_006393.3(NEBL):c.583-84_583-83del rs375190077
NM_006393.3(NEBL):c.658G>A (p.Val220Met) rs571563897
NM_006393.3(NEBL):c.67_72del (p.Asn23_Glu24del) rs778962398
NM_006393.3(NEBL):c.685-260G>C rs703094
NM_006393.3(NEBL):c.685-305T>A rs71541567
NM_006393.3(NEBL):c.904-274G>C rs703090
NM_213569.2(NEBL):c.-138GC[1] rs778464499
NM_213569.2(NEBL):c.-241GAGCCG[2] rs545718319
NM_213569.2(NEBL):c.70-5del rs11413698
NM_213569.2(NEBL):c.70-5dup rs11413698
NM_213569.2(NEBL):c.70-6_70-5dup rs11413698

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