ClinVar Miner

List of variants in gene NEB reported by PreventionGenetics

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Gene type:
ClinVar version:
Total variants: 189
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HGVS dbSNP
NM_001271208.1(NEB):c.3043-37_3043-33delCTTTA rs553020641
NM_001271208.2(NEB):c.10201T>A (p.Ser3401Thr) rs199847072
NM_001271208.2(NEB):c.10338T>C (p.Asn3446=) rs147569843
NM_001271208.2(NEB):c.10344C>T (p.Asn3448=) rs145052299
NM_001271208.2(NEB):c.10347+6C>T rs141088433
NM_001271208.2(NEB):c.10452+9A>G rs117270796
NM_001271208.2(NEB):c.10463G>A (p.Arg3488His) rs371605774
NM_001271208.2(NEB):c.10609G>A (p.Ala3537Thr) rs556492694
NM_001271208.2(NEB):c.10707G>A (p.Lys3569=) rs6717213
NM_001271208.2(NEB):c.10809G>C (p.Trp3603Cys) rs10172023
NM_001271208.2(NEB):c.10872+27A>C rs10186656
NM_001271208.2(NEB):c.11004G>A (p.Thr3668=) rs117018177
NM_001271208.2(NEB):c.11043G>A (p.Val3681=) rs886038428
NM_001271208.2(NEB):c.11133T>C (p.Asp3711=) rs547109690
NM_001271208.2(NEB):c.1152+49A>G rs113401628
NM_001271208.2(NEB):c.11729A>G (p.Asp3910Gly) rs35740585
NM_001271208.2(NEB):c.11806-7C>A rs779713133
NM_001271208.2(NEB):c.11911-17T>C rs144836165
NM_001271208.2(NEB):c.12018+29G>A rs11902616
NM_001271208.2(NEB):c.12667G>A (p.Ala4223Thr) rs12998234
NM_001271208.2(NEB):c.12905A>T (p.Asn4302Ile) rs886038429
NM_001271208.2(NEB):c.12912G>A (p.Pro4304=) rs886038430
NM_001271208.2(NEB):c.12C>T (p.Asp4=) rs117178114
NM_001271208.2(NEB):c.13047C>T (p.Asp4349=) rs886038431
NM_001271208.2(NEB):c.13081G>A (p.Glu4361Lys) rs202017360
NM_001271208.2(NEB):c.13105C>T (p.Leu4369=) rs147579763
NM_001271208.2(NEB):c.13264-18G>A rs886038432
NM_001271208.2(NEB):c.13276G>A (p.Asp4426Asn) rs876657540
NM_001271208.2(NEB):c.13353C>T (p.Ala4451=) rs774726264
NM_001271208.2(NEB):c.13368+11A>G rs112260335
NM_001271208.2(NEB):c.13368+6A>G rs886038433
NM_001271208.2(NEB):c.13456T>A (p.Ser4486Thr) rs886038434
NM_001271208.2(NEB):c.13476C>T (p.Asp4492=) rs876657541
NM_001271208.2(NEB):c.13534G>A (p.Ala4512Thr) rs886038435
NM_001271208.2(NEB):c.13596G>A (p.Leu4532=) rs886038436
NM_001271208.2(NEB):c.13598A>T (p.Tyr4533Phe) rs886038437
NM_001271208.2(NEB):c.13626C>G (p.Ala4542=) rs201225445
NM_001271208.2(NEB):c.13628A>C (p.Lys4543Thr) rs200125713
NM_001271208.2(NEB):c.1366-4A>G rs886038438
NM_001271208.2(NEB):c.13680G>C (p.Gln4560His) rs886038439
NM_001271208.2(NEB):c.13721A>G (p.His4574Arg) rs876657542
NM_001271208.2(NEB):c.13753A>G (p.Ile4585Val) rs886038440
NM_001271208.2(NEB):c.13788+12C>G rs876657543
NM_001271208.2(NEB):c.13941C>T (p.Val4647=) rs886038441
NM_001271208.2(NEB):c.1413C>T (p.Phe471=) rs112958786
NM_001271208.2(NEB):c.14633G>A (p.Arg4878His) rs886038442
NM_001271208.2(NEB):c.14734A>G (p.Asn4912Asp) rs10909569
NM_001271208.2(NEB):c.14785C>T (p.Leu4929=) rs554231162
NM_001271208.2(NEB):c.14811T>C (p.Ala4937=) rs71415153
NM_001271208.2(NEB):c.14826+10C>T rs769453286
NM_001271208.2(NEB):c.14826+11G>A rs71415152
NM_001271208.2(NEB):c.14914T>A (p.Ser4972Thr) rs776187492
NM_001271208.2(NEB):c.14934+16_14934+17insG rs11436831
NM_001271208.2(NEB):c.14934T>C (p.Asp4978=) rs886038443
NM_001271208.2(NEB):c.15086A>C (p.Lys5029Thr) rs200053313
NM_001271208.2(NEB):c.15179A>G (p.His5060Arg) rs886038444
NM_001271208.2(NEB):c.15246+12C>G rs886038445
NM_001271208.2(NEB):c.1569+38G>A rs76127015
NM_001271208.2(NEB):c.15821A>T (p.Asn5274Ile) rs45612241
NM_001271208.2(NEB):c.16021T>C (p.Leu5341=) rs796103760
NM_001271208.2(NEB):c.16192G>A (p.Asp5398Asn) rs750810441
NM_001271208.2(NEB):c.16269C>T (p.Ala5423=) rs542916866
NM_001271208.2(NEB):c.16284+11A>G rs367881797
NM_001271208.2(NEB):c.16392C>T (p.Asp5464=) rs886038446
NM_001271208.2(NEB):c.16449C>T (p.Ser5483=) rs546992311
NM_001271208.2(NEB):c.16450G>A (p.Ala5484Thr) rs536508687
NM_001271208.2(NEB):c.16542C>G (p.Ala5514=) rs200602229
NM_001271208.2(NEB):c.16544A>C (p.Lys5515Thr) rs62174690
NM_001271208.2(NEB):c.16637G>A (p.Arg5546His) rs201111610
NM_001271208.2(NEB):c.16704+12G>C rs62174689
NM_001271208.2(NEB):c.16705-18C>T rs61254943
NM_001271208.2(NEB):c.1674+30T>G rs6433569
NM_001271208.2(NEB):c.1675-13_1675-11delinsA rs1553601860
NM_001271208.2(NEB):c.1675-9T>G rs75118047
NM_001271208.2(NEB):c.16762T>A (p.Ser5588Thr) rs35227368
NM_001271208.2(NEB):c.16788C>T (p.Asn5596=) rs186902443
NM_001271208.2(NEB):c.16911A>G (p.Pro5637=) rs33988153
NM_001271208.2(NEB):c.17049G>T (p.Ala5683=) rs140688592
NM_001271208.2(NEB):c.17497G>A (p.Val5833Ile) rs149881695
NM_001271208.2(NEB):c.17736+36C>T rs371183779
NM_001271208.2(NEB):c.17887G>A (p.Val5963Ile) rs138217960
NM_001271208.2(NEB):c.18157-20A>G rs747415022
NM_001271208.2(NEB):c.18294T>C (p.Tyr6098=) rs2288211
NM_001271208.2(NEB):c.18305G>C (p.Arg6102Thr) rs2288210
NM_001271208.2(NEB):c.18555G>A (p.Lys6185=) rs145252235
NM_001271208.2(NEB):c.1856A>G (p.Lys619Arg) rs147305883
NM_001271208.2(NEB):c.18580-32C>T rs62174683
NM_001271208.2(NEB):c.18692C>T (p.Ala6231Val) rs375357016
NM_001271208.2(NEB):c.18693G>C (p.Ala6231=) rs141338915
NM_001271208.2(NEB):c.18783G>A (p.Gln6261=) rs148095660
NM_001271208.2(NEB):c.18861C>T (p.Arg6287=) rs146294986
NM_001271208.2(NEB):c.18997-10T>C rs4544436
NM_001271208.2(NEB):c.19056G>T (p.Thr6352=) rs115631125
NM_001271208.2(NEB):c.19101+41C>T rs4364020
NM_001271208.2(NEB):c.19102-6C>T rs145127681
NM_001271208.2(NEB):c.19206+46C>A rs76261031
NM_001271208.2(NEB):c.19314+42C>T rs2288206
NM_001271208.2(NEB):c.19429-28T>A rs756969318
NM_001271208.2(NEB):c.19455G>A (p.Lys6485=) rs182847302
NM_001271208.2(NEB):c.19482C>T (p.Pro6494=) rs200333206
NM_001271208.2(NEB):c.195G>A (p.Pro65=) rs79524813
NM_001271208.2(NEB):c.19626T>C (p.Asp6542=) rs190336010
NM_001271208.2(NEB):c.19732-39G>C rs144077905
NM_001271208.2(NEB):c.19732-6C>T rs11894996
NM_001271208.2(NEB):c.20078C>T (p.Thr6693Ile) rs35707762
NM_001271208.2(NEB):c.20158-42G>A rs2288201
NM_001271208.2(NEB):c.20192A>T (p.Asp6731Val) rs2288200
NM_001271208.2(NEB):c.20263-18G>A rs377143618
NM_001271208.2(NEB):c.20466+11A>G rs181826071
NM_001271208.2(NEB):c.20598C>G (p.Gly6866=) rs16830192
NM_001271208.2(NEB):c.20766C>T (p.Asp6922=) rs34555492
NM_001271208.2(NEB):c.20998-44A>C rs3732310
NM_001271208.2(NEB):c.20998-49C>T rs374484102
NM_001271208.2(NEB):c.21044C>G (p.Ser7015Cys) rs62167164
NM_001271208.2(NEB):c.2310+9T>A rs779165221
NM_001271208.2(NEB):c.2318A>G (p.Tyr773Cys) rs77151072
NM_001271208.2(NEB):c.2781C>G (p.Pro927=) rs745481666
NM_001271208.2(NEB):c.2832C>T (p.Ser944=) rs114076205
NM_001271208.2(NEB):c.2944-9G>A rs13427102
NM_001271208.2(NEB):c.3081A>T (p.Lys1027Asn) rs6735208
NM_001271208.2(NEB):c.3147+5G>A rs74859201
NM_001271208.2(NEB):c.3191A>G (p.Tyr1064Cys) rs187343008
NM_001271208.2(NEB):c.3348C>T (p.Asn1116=) rs149162847
NM_001271208.2(NEB):c.3373G>C (p.Glu1125Gln) rs757784515
NM_001271208.2(NEB):c.3412A>G (p.Asn1138Asp) rs117048449
NM_001271208.2(NEB):c.3567+13T>C rs886038451
NM_001271208.2(NEB):c.3593A>G (p.Asn1198Ser) rs146616621
NM_001271208.2(NEB):c.3639C>T (p.Val1213=) rs74320183
NM_001271208.2(NEB):c.3775-18A>G rs777446803
NM_001271208.2(NEB):c.3778T>C (p.Leu1260=) rs886038452
NM_001271208.2(NEB):c.3879+20G>T rs12618063
NM_001271208.2(NEB):c.4206T>A (p.Asn1402Lys) rs201169452
NM_001271208.2(NEB):c.4272G>C (p.Thr1424=) rs35654397
NM_001271208.2(NEB):c.4407G>C (p.Glu1469Asp) rs34800215
NM_001271208.2(NEB):c.4435G>A (p.Val1479Ile) rs34577613
NM_001271208.2(NEB):c.4466G>A (p.Gly1489Asp) rs74482326
NM_001271208.2(NEB):c.4471G>A (p.Val1491Met) rs7426114
NM_001271208.2(NEB):c.5031+48A>G rs4664496
NM_001271208.2(NEB):c.5102T>C (p.Val1701Ala) rs117271684
NM_001271208.2(NEB):c.5225T>G (p.Leu1742Arg) rs202113159
NM_001271208.2(NEB):c.5370G>A (p.Glu1790=) rs10170273
NM_001271208.2(NEB):c.5376G>A (p.Lys1792=) rs886038453
NM_001271208.2(NEB):c.539A>G (p.Lys180Arg) rs200719359
NM_001271208.2(NEB):c.5555T>G (p.Met1852Arg) rs144180493
NM_001271208.2(NEB):c.5567G>A (p.Arg1856Gln) rs141930814
NM_001271208.2(NEB):c.5718C>T (p.Ala1906=) rs115379999
NM_001271208.2(NEB):c.571G>C (p.Glu191Gln) rs35686968
NM_001271208.2(NEB):c.5763+15C>T rs148455519
NM_001271208.2(NEB):c.5763+27G>A rs373166434
NM_001271208.2(NEB):c.5763+35T>C rs12620077
NM_001271208.2(NEB):c.5772C>T (p.Tyr1924=) rs77547727
NM_001271208.2(NEB):c.5802C>T (p.Gly1934=) rs139963368
NM_001271208.2(NEB):c.5905T>C (p.Tyr1969His) rs34532796
NM_001271208.2(NEB):c.5971C>T (p.His1991Tyr) rs75807392
NM_001271208.2(NEB):c.6069G>A (p.Met2023Ile) rs184262608
NM_001271208.2(NEB):c.612+15C>T rs112288851
NM_001271208.2(NEB):c.612+8T>C rs113095802
NM_001271208.2(NEB):c.6159G>A (p.Lys2053=) rs140186806
NM_001271208.2(NEB):c.6184-14T>A rs10173335
NM_001271208.2(NEB):c.6381T>A (p.Asp2127Glu) rs368302286
NM_001271208.2(NEB):c.6449C>T (p.Ala2150Val) rs375256600
NM_001271208.2(NEB):c.6559C>T (p.Leu2187=) rs369413888
NM_001271208.2(NEB):c.6717T>G (p.Ile2239Met) rs78733601
NM_001271208.2(NEB):c.6807+6T>G rs10930723
NM_001271208.2(NEB):c.6869C>T (p.Ala2290Val) rs756114192
NM_001271208.2(NEB):c.7126G>C (p.Val2376Leu) rs141155976
NM_001271208.2(NEB):c.7310G>A (p.Arg2437Gln) rs61730780
NM_001271208.2(NEB):c.7514C>A (p.Ala2505Glu) rs35292878
NM_001271208.2(NEB):c.7581C>T (p.Tyr2527=) rs200425929
NM_001271208.2(NEB):c.7644+25T>C rs78226234
NM_001271208.2(NEB):c.771T>C (p.Ala257=) rs4611637
NM_001271208.2(NEB):c.7839G>C (p.Lys2613Asn) rs13013209
NM_001271208.2(NEB):c.8189A>G (p.Asp2730Gly) rs76767949
NM_001271208.2(NEB):c.822+25_822+27dup rs397718862
NM_001271208.2(NEB):c.8318G>A (p.Arg2773Gln) rs35974308
NM_001271208.2(NEB):c.8335A>G (p.Ile2779Val) rs114853127
NM_001271208.2(NEB):c.8466C>T (p.His2822=) rs61730771
NM_001271208.2(NEB):c.8646C>T (p.Asp2882=) rs61730773
NM_001271208.2(NEB):c.8734T>C (p.Ser2912Pro) rs6713162
NM_001271208.2(NEB):c.9052G>A (p.Asp3018Asn) rs192098032
NM_001271208.2(NEB):c.9071C>T (p.Ala3024Val) rs143933602
NM_001271208.2(NEB):c.9072G>A (p.Ala3024=) rs369897667
NM_001271208.2(NEB):c.9124T>C (p.Cys3042Arg) rs6710212
NM_001271208.2(NEB):c.9155G>A (p.Arg3052Gln) rs201176993
NM_001271208.2(NEB):c.928-10T>C rs886038454
NM_001271208.2(NEB):c.9352A>T (p.Thr3118Ser) rs543100735
NM_001271208.2(NEB):c.9363T>C (p.Pro3121=) rs6709886
NM_001271208.2(NEB):c.9467T>A (p.Ile3156Asn) rs145770770
NM_001271208.2(NEB):c.9865G>A (p.Gly3289Ser) rs75639119

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