ClinVar Miner

List of variants in gene NEB reported by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 75
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HGVS dbSNP
NM_001271208.2(NEB):c.10707G>A (p.Lys3569=) rs6717213
NM_001271208.2(NEB):c.10744G>A (p.Val3582Ile) rs139798654
NM_001271208.2(NEB):c.10809G>C (p.Trp3603Cys) rs10172023
NM_001271208.2(NEB):c.11148G>C (p.Met3716Ile) rs149025191
NM_001271208.2(NEB):c.11333T>C (p.Ile3778Thr) rs200270156
NM_001271208.2(NEB):c.11457G>A (p.Val3819=) rs780152095
NM_001271208.2(NEB):c.11729A>G (p.Asp3910Gly) rs35740585
NM_001271208.2(NEB):c.11769T>C (p.Ile3923=) rs80320923
NM_001271208.2(NEB):c.12247C>T (p.Arg4083Cys) rs368383341
NM_001271208.2(NEB):c.12C>T (p.Asp4=) rs117178114
NM_001271208.2(NEB):c.1471-1G>A rs1553605995
NM_001271208.2(NEB):c.1675-9T>G rs75118047
NM_001271208.2(NEB):c.16762T>A (p.Ser5588Thr) rs35227368
NM_001271208.2(NEB):c.16911A>G (p.Pro5637=) rs33988153
NM_001271208.2(NEB):c.17024G>T (p.Arg5675Leu) rs373850451
NM_001271208.2(NEB):c.18113A>G (p.Asn6038Ser) rs16830236
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.18597del (p.Tyr6200fs) rs797045735
NM_001271208.2(NEB):c.18693G>C (p.Ala6231=) rs141338915
NM_001271208.2(NEB):c.18997-10T>C rs4544436
NM_001271208.2(NEB):c.19056G>T (p.Thr6352=) rs115631125
NM_001271208.2(NEB):c.19102-6C>T rs145127681
NM_001271208.2(NEB):c.19311C>T (p.Ser6437=) rs16830216
NM_001271208.2(NEB):c.19712_19716delinsGAG (p.Ala6571fs) rs587780397
NM_001271208.2(NEB):c.19732-6C>T rs11894996
NM_001271208.2(NEB):c.19967G>C (p.Arg6656Pro) rs767200761
NM_001271208.2(NEB):c.20078C>T (p.Thr6693Ile) rs35707762
NM_001271208.2(NEB):c.20098C>A (p.Leu6700Ile) rs202139330
NM_001271208.2(NEB):c.20192A>T (p.Asp6731Val) rs2288200
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.21044C>G (p.Ser7015Cys) rs62167164
NM_001271208.2(NEB):c.2211+5G>T rs797045736
NM_001271208.2(NEB):c.244A>G (p.Met82Val) rs587780398
NM_001271208.2(NEB):c.2499del (p.Ala834fs) rs1553564693
NM_001271208.2(NEB):c.2640C>T (p.Arg880=) rs114959904
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.340G>A (p.Ala114Thr) rs779928749
NM_001271208.2(NEB):c.3412A>G (p.Asn1138Asp) rs117048449
NM_001271208.2(NEB):c.3468C>T (p.Val1156=) rs373258662
NM_001271208.2(NEB):c.3567+1G>A rs587780399
NM_001271208.2(NEB):c.3593A>G (p.Asn1198Ser) rs146616621
NM_001271208.2(NEB):c.3774+1G>A rs111293259
NM_001271208.2(NEB):c.3775-6T>C rs80232472
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.4471G>A (p.Val1491Met) rs7426114
NM_001271208.2(NEB):c.4664G>A (p.Arg1555Lys) rs183333679
NM_001271208.2(NEB):c.5102T>C (p.Val1701Ala) rs117271684
NM_001271208.2(NEB):c.5370G>A (p.Glu1790=) rs10170273
NM_001271208.2(NEB):c.5567G>A (p.Arg1856Gln) rs141930814
NM_001271208.2(NEB):c.571G>C (p.Glu191Gln) rs35686968
NM_001271208.2(NEB):c.5724C>T (p.Ser1908=) rs370965998
NM_001271208.2(NEB):c.5763+4C>T rs78916288
NM_001271208.2(NEB):c.5772C>T (p.Tyr1924=) rs77547727
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.612+8T>C rs113095802
NM_001271208.2(NEB):c.6159G>A (p.Lys2053=) rs140186806
NM_001271208.2(NEB):c.6717T>G (p.Ile2239Met) rs78733601
NM_001271208.2(NEB):c.6807+6T>G rs10930723
NM_001271208.2(NEB):c.7310G>A (p.Arg2437Gln) rs61730780
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.8318G>A (p.Arg2773Gln) rs35974308
NM_001271208.2(NEB):c.8466C>T (p.His2822=) rs61730771
NM_001271208.2(NEB):c.8592T>C (p.Asp2864=) rs61730772
NM_001271208.2(NEB):c.8734T>C (p.Ser2912Pro) rs6713162
NM_001271208.2(NEB):c.9865G>A (p.Gly3289Ser) rs75639119

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