ClinVar Miner

List of variants in gene NEB reported by Counsyl

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 217
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HGVS dbSNP
NM_001271208.1(NEB):c.19102-31_19102-30delAG rs774225336
NM_001271208.1(NEB):c.21103delG (p.Val7035Terfs) rs1553686994
NM_001271208.1(NEB):c.3147+1delG rs1553539777
NM_001271208.1(NEB):c.3567+3_3567+6delAAGT rs1553534336
NM_001271208.1(NEB):c.7523_7526del rs878854368
NM_001271208.1(NEB):c.7651_7656del6 (p.Tyr2551_Lys2552del) rs1553983947
NM_001271208.2(NEB):c.10560+1G>A rs1553915731
NM_001271208.2(NEB):c.107_109CAA[1] (p.Thr37del) rs1553698850
NM_001271208.2(NEB):c.10817_10819del (p.Leu3606del) rs1553911586
NM_001271208.2(NEB):c.10833_10835CAT[1] (p.Ile3613del) rs773748212
NM_001271208.2(NEB):c.11076+1G>A rs1460365350
NM_001271208.2(NEB):c.11164C>T (p.Arg3722Ter) rs928945364
NM_001271208.2(NEB):c.11181+2T>C rs1553904694
NM_001271208.2(NEB):c.11215A>C (p.Lys3739Gln) rs267598922
NM_001271208.2(NEB):c.11289+1G>C rs1553901249
NM_001271208.2(NEB):c.11295_11297del (p.Lys3765_Tyr3766delinsAsn) rs1553898232
NM_001271208.2(NEB):c.11333T>C (p.Ile3778Thr) rs200270156
NM_001271208.2(NEB):c.1152+1G>A rs398124167
NM_001271208.2(NEB):c.1152+5G>A rs111404077
NM_001271208.2(NEB):c.1153-2A>G rs1553609515
NM_001271208.2(NEB):c.11602-2A>C rs1553891733
NM_001271208.2(NEB):c.11627G>A (p.Trp3876Ter) rs776569219
NM_001271208.2(NEB):c.11729A>G (p.Asp3910Gly) rs35740585
NM_001271208.2(NEB):c.11909_11910+4del rs1553886582
NM_001271208.2(NEB):c.11910+1G>A rs774495973
NM_001271208.2(NEB):c.11954A>G (p.Tyr3985Cys) rs745504838
NM_001271208.2(NEB):c.1258-2A>G rs1553608621
NM_001271208.2(NEB):c.1365+2T>C rs770797137
NM_001271208.2(NEB):c.1366-2A>G rs1553607505
NM_001271208.2(NEB):c.1470+1G>A rs1220787593
NM_001271208.2(NEB):c.1470+2dup rs1477702016
NM_001271208.2(NEB):c.153_167del (p.52_56LAQPA[1]) rs757726895
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.1649_1651del (p.Lys550_Val551delinsIle) rs746163908
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.1802_1803del (p.Asp600_Tyr601insTer) rs1553601066
NM_001271208.2(NEB):c.18367-1_18367delinsAA rs1553770178
NM_001271208.2(NEB):c.18471+1G>C rs1553769576
NM_001271208.2(NEB):c.18510_18515del (p.Gly6171_Tyr6172del) rs1553767010
NM_001271208.2(NEB):c.18676C>T (p.Gln6226Ter) rs1475648900
NM_001271208.2(NEB):c.18694-2del rs1553763404
NM_001271208.2(NEB):c.18694-6_18694-2del rs1377029367
NM_001271208.2(NEB):c.18808C>T (p.Arg6270Ter) rs754369875
NM_001271208.2(NEB):c.18809_18811del (p.Arg6270del) rs1553762776
NM_001271208.2(NEB):c.18865C>T (p.Arg6289Ter) rs539819851
NM_001271208.2(NEB):c.18891+1G>A rs1443738549
NM_001271208.2(NEB):c.18953C>T (p.Pro6318Leu) rs267598920
NM_001271208.2(NEB):c.1897-1G>A rs1553593177
NM_001271208.2(NEB):c.18981C>G (p.Tyr6327Ter) rs761964375
NM_001271208.2(NEB):c.19097G>T (p.Ser6366Ile) rs191579691
NM_001271208.2(NEB):c.19101+5G>A rs374929094
NM_001271208.2(NEB):c.19126_19151del (p.Gln6376fs) rs1553757097
NM_001271208.2(NEB):c.19207-1G>A rs1553755829
NM_001271208.2(NEB):c.194C>T (p.Pro65Leu) rs375909006
NM_001271208.2(NEB):c.19518_19520GAA[1] (p.Lys6508del) rs1553736221
NM_001271208.2(NEB):c.19836+1G>T rs1446930968
NM_001271208.2(NEB):c.20131C>T (p.Arg6711Trp) rs533233215
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.20442_20447dup (p.Ser6815_Arg6816dup) rs760783104
NM_001271208.2(NEB):c.20467-1G>T rs760082702
NM_001271208.2(NEB):c.20514C>A (p.Tyr6838Ter) rs1242775893
NM_001271208.2(NEB):c.20577+2T>C rs1185654671
NM_001271208.2(NEB):c.20659C>T (p.Arg6887Ter) rs749452641
NM_001271208.2(NEB):c.20721_20723TCA[1] (p.His6909del) rs1553696713
NM_001271208.2(NEB):c.20763_20774del (p.Lys6921_Asp6925delinsAsn) rs1553696371
NM_001271208.2(NEB):c.20787+2T>C rs1337287633
NM_001271208.2(NEB):c.20788-1G>A rs1553695557
NM_001271208.2(NEB):c.20845dup (p.Thr6949fs) rs1553695209
NM_001271208.2(NEB):c.20889dup (p.Asp6964Ter) rs1553694860
NM_001271208.2(NEB):c.21010_21012del (p.Glu7004del) rs770208836
NM_001271208.2(NEB):c.2106+3A>C rs1553589058
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.21238_21243del (p.Lys7080_Ser7081del) rs1553683478
NM_001271208.2(NEB):c.21312+1G>A rs1553682994
NM_001271208.2(NEB):c.21321C>G (p.Tyr7107Ter) rs1553679273
NM_001271208.2(NEB):c.21340C>T (p.Arg7114Trp) rs186686151
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>A rs797045736
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.23_25AGG[1] (p.Glu9del) rs1553711235
NM_001271208.2(NEB):c.2415+2T>C rs1057517399
NM_001271208.2(NEB):c.2415+2dup rs1553567814
NM_001271208.2(NEB):c.2416-1G>C rs1553565278
NM_001271208.2(NEB):c.244A>G (p.Met82Val) rs587780398
NM_001271208.2(NEB):c.2459T>G (p.Phe820Cys) rs200664592
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.2875_2877del (p.Cys959del) rs766232587
NM_001271208.2(NEB):c.2920C>T (p.Arg974Ter) rs1553548666
NM_001271208.2(NEB):c.294+2T>C rs773952935
NM_001271208.2(NEB):c.2943+1G>A rs113091511
NM_001271208.2(NEB):c.2944-1G>A rs1553542669
NM_001271208.2(NEB):c.295-1G>T rs111300270
NM_001271208.2(NEB):c.3218_3226dup (p.Ala1076_Lys1077insValArgAla) rs1553539039
NM_001271208.2(NEB):c.3221_3229dup (p.Arg1074_Ala1076dup) rs1553539015
NM_001271208.2(NEB):c.3255+1G>A rs375628303
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.3255+2dup rs1276026682
NM_001271208.2(NEB):c.3352G>T (p.Ala1118Ser) rs1225381477
NM_001271208.2(NEB):c.3389_3390del (p.Asp1129_Tyr1130insTer) rs1159756073
NM_001271208.2(NEB):c.3545_3547del (p.Asn1182del) rs1553534580
NM_001271208.2(NEB):c.3567+1G>C rs587780399
NM_001271208.2(NEB):c.3676_3678AAG[1] (p.Lys1227del) rs1553532187
NM_001271208.2(NEB):c.37-1G>A rs1428597732
NM_001271208.2(NEB):c.37-1G>C rs1428597732
NM_001271208.2(NEB):c.3759_3773del (p.Lys1254_Asp1258del) rs1553531184
NM_001271208.2(NEB):c.3774+2T>C rs1553531049
NM_001271208.2(NEB):c.3795_3797AGA[1] (p.Glu1266del) rs1553522046
NM_001271208.2(NEB):c.3874A>G (p.Ser1292Gly) rs1553521537
NM_001271208.2(NEB):c.3879+1G>A rs746999970
NM_001271208.2(NEB):c.3879+8G>A rs376511134
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.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.4337G>T (p.Gly1446Val) rs541803470
NM_001271208.2(NEB):c.4471G>T (p.Val1491Leu) rs7426114
NM_001271208.2(NEB):c.4506+1G>A rs112517981
NM_001271208.2(NEB):c.4664G>A (p.Arg1555Lys) rs183333679
NM_001271208.2(NEB):c.4719+2T>C rs1553501889
NM_001271208.2(NEB):c.47_49AAG[1] (p.Glu17del) rs760256873
NM_001271208.2(NEB):c.5031+1G>A rs1553495140
NM_001271208.2(NEB):c.507+1G>A rs1553689057
NM_001271208.2(NEB):c.5140_5142AAG[1] (p.Lys1715del) rs1553492424
NM_001271208.2(NEB):c.5170_5172del (p.Lys1724del) rs1553492107
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.54_56dup (p.Val19dup) rs1553702754
NM_001271208.2(NEB):c.5763+5G>A rs776167256
NM_001271208.2(NEB):c.5939T>C (p.Leu1980Ser) rs375412223
NM_001271208.2(NEB):c.605_607del (p.Phe202_Ser203delinsCys) rs1553687045
NM_001271208.2(NEB):c.6075+1G>A rs1553472127
NM_001271208.2(NEB):c.6076-1G>T rs1553469502
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.6195_6200del (p.2063_2064KY[1]) rs767681176
NM_001271208.2(NEB):c.6507G>A (p.Lys2169=) rs267598923
NM_001271208.2(NEB):c.6598A>G (p.Ser2200Gly) rs1553462412
NM_001271208.2(NEB):c.6799_6804del (p.Tyr2267_Ser2268del) rs1209177139
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.6956_6967del (p.His2319_Phe2322del) rs1553449735
NM_001271208.2(NEB):c.7120_7122dup (p.Glu2374dup) rs1553449134
NM_001271208.2(NEB):c.7135_7140del (p.Val2379_Asp2380del) rs1326831435
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.7432-2A>G rs1553990438
NM_001271208.2(NEB):c.7549_7551del (p.Met2517del) rs1553985641
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.772G>A (p.Asp258Asn) rs267598926
NM_001271208.2(NEB):c.7761G>C (p.Arg2587Ser) rs869312958
NM_001271208.2(NEB):c.78+1G>A rs778593702
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.834_836AGA[1] (p.Glu279del) rs1553642771
NM_001271208.2(NEB):c.8374-1G>A rs1180407562
NM_001271208.2(NEB):c.8392_8395dup (p.Arg2799fs) rs765403861
NM_001271208.2(NEB):c.8497_8499AAG[1] (p.Lys2834del) rs764523437
NM_001271208.2(NEB):c.8860del (p.Ala2954fs) rs1553964158
NM_001271208.2(NEB):c.8880_8882del (p.Met2961del) rs1553964000
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.9053_9067del (p.Asp3018_Ile3022del) rs1165631470
NM_001271208.2(NEB):c.9102+1G>A rs143644938
NM_001271208.2(NEB):c.9108del (p.Lys3036fs) rs1553948395
NM_001271208.2(NEB):c.914A>G (p.Asp305Gly) rs36105240
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.9363T>G (p.Pro3121=) rs6709886
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.9819_9820insAGG (p.Val3274_Ile3275insArg) rs1553934027
NM_001271208.2(NEB):c.9831+1G>A rs1553933986
NM_001271208.2(NEB):c.9943del (p.Asp3315fs) rs1553930053

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