ClinVar Miner

List of variants in gene NEB reported as likely pathogenic

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Gene type:
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Total variants: 168
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HGVS dbSNP
NM_001271208.1(NEB):c.21103delG (p.Val7035Terfs) rs1553686994
NM_001271208.1(NEB):c.[7291G>A];[7523_7526delTCAA]
NM_001271208.2(NEB):c.10560+1G>A rs1553915731
NM_001271208.2(NEB):c.11076+1G>A rs1460365350
NM_001271208.2(NEB):c.11077-1G>A
NM_001271208.2(NEB):c.11181+2T>C rs1553904694
NM_001271208.2(NEB):c.11289+1G>C rs1553901249
NM_001271208.2(NEB):c.11341C>T (p.Arg3781Trp) rs533027587
NM_001271208.2(NEB):c.1153-2A>G rs1553609515
NM_001271208.2(NEB):c.11581G>T (p.Ala3861Ser) rs750748717
NM_001271208.2(NEB):c.11602-2A>C rs1553891733
NM_001271208.2(NEB):c.1161C>G (p.Tyr387Ter) rs1259297878
NM_001271208.2(NEB):c.11627G>A (p.Trp3876Ter) rs776569219
NM_001271208.2(NEB):c.11825G>A (p.Trp3942Ter) rs1553887191
NM_001271208.2(NEB):c.11909_11910+4del rs1553886582
NM_001271208.2(NEB):c.11910+1G>A rs774495973
NM_001271208.2(NEB):c.12403_12404AG[1] (p.Arg4135fs) rs1553877885
NM_001271208.2(NEB):c.1258-2A>G rs1553608621
NM_001271208.2(NEB):c.13476+1G>A
NM_001271208.2(NEB):c.1365+2T>C rs770797137
NM_001271208.2(NEB):c.1366-2A>G rs1553607505
NM_001271208.2(NEB):c.13788+1G>A rs1553862061
NM_001271208.2(NEB):c.14323G>T (p.Glu4775Ter) rs1131691787
NM_001271208.2(NEB):c.1470+1G>A rs1220787593
NM_001271208.2(NEB):c.1569+1G>A rs1553605553
NM_001271208.2(NEB):c.1570-2A>G rs1553603958
NM_001271208.2(NEB):c.1570-2_1574del rs1553603933
NM_001271208.2(NEB):c.16273C>T (p.Gln5425Ter) rs1064796311
NM_001271208.2(NEB):c.1672_1674+2del rs1057516739
NM_001271208.2(NEB):c.1674+1G>T rs750585238
NM_001271208.2(NEB):c.1674+2T>C rs1553603437
NM_001271208.2(NEB):c.17953_18472-56del
NM_001271208.2(NEB):c.1802_1803del (p.Asp600_Tyr601insTer) rs1553601066
NM_001271208.2(NEB):c.18261+1G>T
NM_001271208.2(NEB):c.18367-1_18367delinsAA rs1553770178
NM_001271208.2(NEB):c.18367-1_18370del rs1553770146
NM_001271208.2(NEB):c.18471+1G>C rs1553769576
NM_001271208.2(NEB):c.1849del (p.Asp617fs) rs755531536
NM_001271208.2(NEB):c.18694-2del rs1553763404
NM_001271208.2(NEB):c.18865C>T (p.Arg6289Ter) rs539819851
NM_001271208.2(NEB):c.18891+1G>A rs1443738549
NM_001271208.2(NEB):c.1897-1G>A rs1553593177
NM_001271208.2(NEB):c.18981C>G (p.Tyr6327Ter) rs761964375
NM_001271208.2(NEB):c.18996+2T>C
NM_001271208.2(NEB):c.19126_19151del (p.Gln6376fs) rs1553757097
NM_001271208.2(NEB):c.19207-1G>A rs1553755829
NM_001271208.2(NEB):c.19836+1G>T rs1446930968
NM_001271208.2(NEB):c.19944G>A (p.Ser6648=) rs201553266
NM_001271208.2(NEB):c.20157+2T>C rs1553717306
NM_001271208.2(NEB):c.20158-1G>C rs1553715579
NM_001271208.2(NEB):c.20390_20412del (p.Gln6797fs) rs1553710982
NM_001271208.2(NEB):c.20401G>T (p.Gly6801Ter)
NM_001271208.2(NEB):c.20467-1G>T rs760082702
NM_001271208.2(NEB):c.20514C>A (p.Tyr6838Ter) rs1242775893
NM_001271208.2(NEB):c.20554G>T (p.Glu6852Ter) rs777819332
NM_001271208.2(NEB):c.20577+2T>C rs1185654671
NM_001271208.2(NEB):c.20659C>T (p.Arg6887Ter) rs749452641
NM_001271208.2(NEB):c.20682+1G>A
NM_001271208.2(NEB):c.20787+2T>C rs1337287633
NM_001271208.2(NEB):c.20788-1G>A rs1553695557
NM_001271208.2(NEB):c.20858del (p.Ile6953fs) rs1064794461
NM_001271208.2(NEB):c.20889dup (p.Asp6964Ter) rs1553694860
NM_001271208.2(NEB):c.21076C>T (p.Arg7026Ter) rs769345284
NM_001271208.2(NEB):c.21093_21094del (p.Val7032fs) rs1553688242
NM_001271208.2(NEB):c.21312+1G>A rs1553682994
NM_001271208.2(NEB):c.21321C>G (p.Tyr7107Ter) rs1553679273
NM_001271208.2(NEB):c.21358del (p.Leu7120fs) rs1553678967
NM_001271208.2(NEB):c.2211+1G>A rs1553586486
NM_001271208.2(NEB):c.2211+5G>T rs797045736
NM_001271208.2(NEB):c.2212-2A>G rs1553580540
NM_001271208.2(NEB):c.2310+2T>A rs1553579092
NM_001271208.2(NEB):c.2385del (p.Gln795fs) rs1553568167
NM_001271208.2(NEB):c.2389_2390AG[1] (p.Arg797fs) rs1057516938
NM_001271208.2(NEB):c.2415+1G>A rs1057524581
NM_001271208.2(NEB):c.2415+1G>T rs1057524581
NM_001271208.2(NEB):c.2415+2T>C rs1057517399
NM_001271208.2(NEB):c.2416-1G>C rs1553565278
NM_001271208.2(NEB):c.2499del (p.Ala834fs) rs1553564693
NM_001271208.2(NEB):c.2659G>T (p.Glu887Ter) rs1553558398
NM_001271208.2(NEB):c.2751del (p.Asp916_Tyr917insTer) rs1553557405
NM_001271208.2(NEB):c.2784del (p.Asp929fs) rs786204430
NM_001271208.2(NEB):c.2920C>T (p.Arg974Ter) rs1553548666
NM_001271208.2(NEB):c.294+2T>C rs773952935
NM_001271208.2(NEB):c.2944-1G>A rs1553542669
NM_001271208.2(NEB):c.295-1G>T rs111300270
NM_001271208.2(NEB):c.3043-1G>A rs113326313
NM_001271208.2(NEB):c.3147+1del rs1553539777
NM_001271208.2(NEB):c.3252_3255+3del rs1559168230
NM_001271208.2(NEB):c.3255+1G>C rs375628303
NM_001271208.2(NEB):c.3255+1G>T rs375628303
NM_001271208.2(NEB):c.3255+1del rs1553538835
NM_001271208.2(NEB):c.3389_3390del (p.Asp1129_Tyr1130insTer) rs1159756073
NM_001271208.2(NEB):c.3567+1G>C rs587780399
NM_001271208.2(NEB):c.36+1G>T rs1553711195
NM_001271208.2(NEB):c.37-1G>A rs1428597732
NM_001271208.2(NEB):c.37-1G>C rs1428597732
NM_001271208.2(NEB):c.3774+2T>C rs1553531049
NM_001271208.2(NEB):c.3858C>A (p.Cys1286Ter) rs1386238241
NM_001271208.2(NEB):c.3879+1G>A rs746999970
NM_001271208.2(NEB):c.3880-1G>T rs1057516381
NM_001271208.2(NEB):c.3880-2A>G rs1342507012
NM_001271208.2(NEB):c.3987+1G>A rs780022652
NM_001271208.2(NEB):c.3987+1_3987+2delinsTG rs786204576
NM_001271208.2(NEB):c.3988-1G>A rs1553517128
NM_001271208.2(NEB):c.3988-2_3988-1delinsTATA rs1553517142
NM_001271208.2(NEB):c.403-6_405del rs1553689774
NM_001271208.2(NEB):c.412C>T (p.Arg138Ter) rs1057517360
NM_001271208.2(NEB):c.4300-2A>C rs1553512813
NM_001271208.2(NEB):c.4506+1G>A rs112517981
NM_001271208.2(NEB):c.4719+2T>C rs1553501889
NM_001271208.2(NEB):c.4720-2A>G rs1057518353
NM_001271208.2(NEB):c.5031+1G>A rs1553495140
NM_001271208.2(NEB):c.507+1G>A rs1553689057
NM_001271208.2(NEB):c.5344-1G>A rs1197561990
NM_001271208.2(NEB):c.5344-1G>C rs1197561990
NM_001271208.2(NEB):c.5451+2_5451+11del rs1553487838
NM_001271208.2(NEB):c.5452-2A>G rs1057517317
NM_001271208.2(NEB):c.6075+1G>A rs1553472127
NM_001271208.2(NEB):c.6076-1G>T rs1553469502
NM_001271208.2(NEB):c.6076-2A>C rs1553469514
NM_001271208.2(NEB):c.6076-2A>G rs1553469514
NM_001271208.2(NEB):c.6078del (p.Lys2026fs) rs1057516758
NM_001271208.2(NEB):c.613-1G>C rs767693366
NM_001271208.2(NEB):c.613-2A>G rs752893483
NM_001271208.2(NEB):c.6183+1G>A rs557870969
NM_001271208.2(NEB):c.6183+1del rs1553468960
NM_001271208.2(NEB):c.6183+2T>A rs1553468939
NM_001271208.2(NEB):c.6808-2A>T rs1553457607
NM_001271208.2(NEB):c.6811_6812CT[1] (p.Leu2271_Tyr2272insTer) rs1180339426
NM_001271208.2(NEB):c.6937C>T (p.Arg2313Ter) rs756363951
NM_001271208.2(NEB):c.717+1G>A
NM_001271208.2(NEB):c.7227+2T>C rs1553448527
NM_001271208.2(NEB):c.7228-1G>A rs1057516996
NM_001271208.2(NEB):c.7266_7268delinsTC (p.Gly2423fs) rs1057516348
NM_001271208.2(NEB):c.734del (p.Gly245fs) rs1559573882
NM_001271208.2(NEB):c.7432-2A>G rs1553990438
NM_001271208.2(NEB):c.7647C>G (p.Tyr2549Ter) rs1373493309
NM_001271208.2(NEB):c.7728_7729delinsA (p.Trp2576_Ser2577delinsTer) rs1553983416
NM_001271208.2(NEB):c.8031_8041del (p.Lys2677fs) rs398124172
NM_001271208.2(NEB):c.8038C>T (p.Arg2680Ter) rs1057516676
NM_001271208.2(NEB):c.823-2A>G rs1553642811
NM_001271208.2(NEB):c.8374-1G>A rs1180407562
NM_001271208.2(NEB):c.8392_8395dup (p.Arg2799fs) rs765403861
NM_001271208.2(NEB):c.8860del (p.Ala2954fs) rs1553964158
NM_001271208.2(NEB):c.8887A>T (p.Lys2963Ter) rs1553963973
NM_001271208.2(NEB):c.8889+1G>A rs1553963960
NM_001271208.2(NEB):c.8994+2T>C rs1553962493
NM_001271208.2(NEB):c.9046C>T (p.Arg3016Ter) rs1057517977
NM_001271208.2(NEB):c.9102+1G>A rs143644938
NM_001271208.2(NEB):c.9108del (p.Lys3036fs) rs1553948395
NM_001271208.2(NEB):c.9246G>A (p.Trp3082Ter) rs1553947423
NM_001271208.2(NEB):c.927+1G>A rs374562457
NM_001271208.2(NEB):c.9346G>T (p.Glu3116Ter) rs193042896
NM_001271208.2(NEB):c.9414+1G>A rs1255445731
NM_001271208.2(NEB):c.9414+1G>T rs1255445731
NM_001271208.2(NEB):c.9428C>G (p.Ser3143Ter) rs1553939806
NM_001271208.2(NEB):c.9440G>A (p.Trp3147Ter) rs1553939774
NM_001271208.2(NEB):c.9457dup (p.Trp3153fs) rs1553939660
NM_001271208.2(NEB):c.9459G>A (p.Trp3153Ter) rs1553939648
NM_001271208.2(NEB):c.9465del (p.Ile3156fs) rs1553939600
NM_001271208.2(NEB):c.9485del (p.Val3162fs) rs1553939284
NM_001271208.2(NEB):c.9576del (p.Glu3193fs) rs1553938571
NM_001271208.2(NEB):c.9619-1G>A rs1390379576
NM_001271208.2(NEB):c.9619-2A>G rs375145370
NM_001271208.2(NEB):c.9724-1G>A rs1553934586
NM_001271208.2(NEB):c.9724-2A>G rs1553934597
NM_001271208.2(NEB):c.9831+1G>A rs1553933986
NM_001271208.2(NEB):c.9943del (p.Asp3315fs) rs1553930053

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