ClinVar Miner

List of variants in gene combination NEB, RIF1 reported by Counsyl

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Gene type:
ClinVar version:
Total variants: 134
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HGVS dbSNP
NM_001271208.1(NEB):c.22051-2delA rs1553647715
NM_001271208.1(NEB):c.22267-5_22267-2delTTTA rs1553644243
NM_001271208.1(NEB):c.22378-30_22378-29dup rs751597547
NM_001271208.1(NEB):c.22584+1delG rs1488066635
NM_001271208.1(NEB):c.23940+17_23940+21del rs768100915
NM_001271208.1(NEB):c.24034-3_24034-2delCA rs1217738625
NM_001271208.1(NEB):c.24313_24315dup (p.Val8105_Leu8106insVal) rs1553552449
NM_001271208.1(NEB):c.25509+1_25509+2ins5 rs1357452519
NM_001271208.1(NEB):c.25639_25640ins21 (p.?) rs1211056097
NM_001271208.2(NEB):c.21648_21650CAA[1] (p.Asn7217del) rs758160111
NM_001271208.2(NEB):c.21735+1G>A rs1446706909
NM_001271208.2(NEB):c.21841-13_21848del rs767772838
NM_001271208.2(NEB):c.21841-2A>G rs1389892619
NM_001271208.2(NEB):c.22077G>A (p.Lys7359=) rs267598918
NM_001271208.2(NEB):c.22192C>T (p.Gln7398Ter) rs1553646540
NM_001271208.2(NEB):c.22204_22206ACA[1] (p.Thr7403del) rs1553646403
NM_001271208.2(NEB):c.22243del (p.Glu7415fs) rs1235589246
NM_001271208.2(NEB):c.22378-1G>A rs1553642332
NM_001271208.2(NEB):c.22378-6_22378-2dup rs758609054
NM_001271208.2(NEB):c.22444_22446AAG[1] (p.Lys7483del) rs1553641943
NM_001271208.2(NEB):c.22479+13_22479+33dup rs1553641788
NM_001271208.2(NEB):c.22533C>T (p.Leu7511=) rs371431256
NM_001271208.2(NEB):c.22537C>T (p.Arg7513Cys) rs202050860
NM_001271208.2(NEB):c.22594C>T (p.Arg7532Ter) rs760935667
NM_001271208.2(NEB):c.22695+2T>C rs200449517
NM_001271208.2(NEB):c.22696-1G>C rs757157808
NM_001271208.2(NEB):c.22747_22749del (p.Lys7583del) rs1553629857
NM_001271208.2(NEB):c.22801-1G>A rs745511810
NM_001271208.2(NEB):c.22810_22812AAG[2] (p.Lys7606del) rs760161843
NM_001271208.2(NEB):c.22905+1G>A rs1302373559
NM_001271208.2(NEB):c.22905+2T>G rs1553627466
NM_001271208.2(NEB):c.23010+2T>C rs1553623367
NM_001271208.2(NEB):c.23010+2dup rs1553623381
NM_001271208.2(NEB):c.23011-6_23011-2del rs1014710501
NM_001271208.2(NEB):c.23233-18del rs1553616477
NM_001271208.2(NEB):c.23346+16C>T rs75221580
NM_001271208.2(NEB):c.23346+2T>A rs1553615846
NM_001271208.2(NEB):c.23384A>G (p.Asn7795Ser) rs1232744915
NM_001271208.2(NEB):c.23425_23427CAA[1] (p.Gln7810del) rs1553614214
NM_001271208.2(NEB):c.23483_23485del (p.Met7828_Ser7829delinsThr) rs1553603652
NM_001271208.2(NEB):c.23483del (p.Met7828fs) rs1553603690
NM_001271208.2(NEB):c.23520dup (p.Gln7841fs) rs1553603438
NM_001271208.2(NEB):c.23522_23523AG[2] (p.Arg7842fs) rs1553603400
NM_001271208.2(NEB):c.23556+1G>C rs1011425121
NM_001271208.2(NEB):c.23556+1G>T rs1011425121
NM_001271208.2(NEB):c.23602_23604GTT[1] (p.Val7869del) rs1553601408
NM_001271208.2(NEB):c.23743_23745del (p.His7915del) rs1553598770
NM_001271208.2(NEB):c.23939C>A (p.Ser7980Ter) rs755970391
NM_001271208.2(NEB):c.23940+1G>A rs781120931
NM_001271208.2(NEB):c.23953_23955del (p.Glu7985del) rs1553576655
NM_001271208.2(NEB):c.23977_23979dup (p.Thr7993dup) rs764993333
NM_001271208.2(NEB):c.24015_24018dup (p.Glu8007fs) rs761694639
NM_001271208.2(NEB):c.24034-1_24035dup rs1427250696
NM_001271208.2(NEB):c.24034-2A>C rs1553569122
NM_001271208.2(NEB):c.24042C>G (p.Tyr8014Ter) rs779173742
NM_001271208.2(NEB):c.24072_24075del (p.Pro8025fs) rs756384471
NM_001271208.2(NEB):c.24094C>T (p.Arg8032Ter) rs549794342
NM_001271208.2(NEB):c.24104_24107TCAA[1] (p.Asn8036fs) rs1553568447
NM_001271208.2(NEB):c.24117_24119dup (p.Phe8040dup) rs1553568381
NM_001271208.2(NEB):c.24119_24120dup (p.Ser8041fs) rs1553568357
NM_001271208.2(NEB):c.24127-1G>A rs1553561697
NM_001271208.2(NEB):c.24127-1G>C rs1553561697
NM_001271208.2(NEB):c.24127-1_24134del rs1423137705
NM_001271208.2(NEB):c.24128_24131dup (p.Leu8044fs) rs1553561665
NM_001271208.2(NEB):c.24129_24133dup (p.Tyr8045fs) rs772009599
NM_001271208.2(NEB):c.24144del (p.Asn8048fs) rs1553561525
NM_001271208.2(NEB):c.24201_24204dup (p.Glu8069fs) rs1553561211
NM_001271208.2(NEB):c.24218C>A (p.Ser8073Ter) rs1458048713
NM_001271208.2(NEB):c.24219+1G>A rs755239192
NM_001271208.2(NEB):c.24232_24235dup (p.Asn8079fs) rs1553556275
NM_001271208.2(NEB):c.24278_24279AG[2] (p.Arg8094fs) rs1266535163
NM_001271208.2(NEB):c.24312+2T>C rs1553555768
NM_001271208.2(NEB):c.24312G>A (p.Ser8104=) rs763193315
NM_001271208.2(NEB):c.24313_24317dup (p.Tyr8107fs) rs1553552413
NM_001271208.2(NEB):c.24315_24317dup (p.Leu8106dup) rs781667543
NM_001271208.2(NEB):c.24316_24317dup (p.Leu8106fs) rs1553552384
NM_001271208.2(NEB):c.24317T>A (p.Leu8106Ter) rs756726488
NM_001271208.2(NEB):c.24325G>T (p.Glu8109Ter) rs1218073575
NM_001271208.2(NEB):c.24367_24369dup (p.Met8123dup) rs769252768
NM_001271208.2(NEB):c.24372_24375del (p.Arg8125fs) rs747564597
NM_001271208.2(NEB):c.24372_24375dup (p.Val8126fs) rs747564597
NM_001271208.2(NEB):c.24380_24383dup (p.His8128fs) rs1553551748
NM_001271208.2(NEB):c.24382_24383CA[4] (p.Asn8129fs) rs1553551650
NM_001271208.2(NEB):c.24398_24400dup (p.Ile8133dup) rs780724946
NM_001271208.2(NEB):c.24405+1G>A rs1366853918
NM_001271208.2(NEB):c.24406_24410dup (p.Tyr8138fs) rs1553548771
NM_001271208.2(NEB):c.24408_24410dup (p.Leu8137dup) rs1344099907
NM_001271208.2(NEB):c.24410T>A (p.Leu8137Ter) rs1553548752
NM_001271208.2(NEB):c.24414C>A (p.Tyr8138Ter) rs1332061304
NM_001271208.2(NEB):c.24444_24447del (p.Pro8149fs) rs934111355
NM_001271208.2(NEB):c.24458_24461dup (p.Met8154fs) rs1257495033
NM_001271208.2(NEB):c.24460_24462dup (p.Met8154dup) rs942843328
NM_001271208.2(NEB):c.24464_24465AG[2] (p.Arg8156fs) rs752582527
NM_001271208.2(NEB):c.24473_24476dup (p.His8159fs) rs1553548207
NM_001271208.2(NEB):c.24480_24482dup (p.Gln8161_Glu8162insHis) rs1372551649
NM_001271208.2(NEB):c.24482_24488del (p.Gln8161fs) rs1553548018
NM_001271208.2(NEB):c.24491_24493dup (p.Ile8164dup) rs767474018
NM_001271208.2(NEB):c.24498+1G>A rs775631800
NM_001271208.2(NEB):c.24499-1G>A rs1421095081
NM_001271208.2(NEB):c.24577_24579del (p.Glu8193del) rs1553544463
NM_001271208.2(NEB):c.24614G>A (p.Gly8205Glu) rs398124169
NM_001271208.2(NEB):c.24632_24633del (p.Pro8211fs) rs555445835
NM_001271208.2(NEB):c.24650_24651AG[2] (p.Arg8218fs) rs755863625
NM_001271208.2(NEB):c.24659_24660dup (p.Arg8221fs) rs1553537512
NM_001271208.2(NEB):c.24685-2A>G rs113290650
NM_001271208.2(NEB):c.24693C>G (p.Tyr8231Ter) rs754272530
NM_001271208.2(NEB):c.24742G>T (p.Glu8248Ter) rs1553536267
NM_001271208.2(NEB):c.24744_24745del (p.Arg8249fs) rs1357811155
NM_001271208.2(NEB):c.24770_24771del (p.Asn8256_Phe8257insTer) rs794727136
NM_001271208.2(NEB):c.24771del (p.Phe8257fs) rs794727136
NM_001271208.2(NEB):c.24778-2A>C rs112687345
NM_001271208.2(NEB):c.24836_24837AG[2] (p.Arg8280fs) rs776059611
NM_001271208.2(NEB):c.24871-9_24872del rs1553530144
NM_001271208.2(NEB):c.24988_24990del (p.His8330del) rs1553527955
NM_001271208.2(NEB):c.25059_25061GAA[1] (p.Lys8354del) rs755822172
NM_001271208.2(NEB):c.25117delinsTA (p.Glu8373Ter) rs1553526619
NM_001271208.2(NEB):c.25162+1G>A rs1191429915
NM_001271208.2(NEB):c.25162+1G>C rs1191429915
NM_001271208.2(NEB):c.25163-2A>C rs866309952
NM_001271208.2(NEB):c.25256-1G>T rs1553520609
NM_001271208.2(NEB):c.25287_25292del (p.Arg8430_Ser8431del) rs1553520388
NM_001271208.2(NEB):c.25319del (p.Gly8440fs) rs1553520266
NM_001271208.2(NEB):c.25402+1G>A rs113525641
NM_001271208.2(NEB):c.25402+2del rs1553519860
NM_001271208.2(NEB):c.25441C>T (p.Arg8481Ter) rs200731870
NM_001271208.2(NEB):c.25445C>A (p.Ser8482Ter) rs1553519124
NM_001271208.2(NEB):c.25450_25452del (p.Ser8484del) rs1553519071
NM_001271208.2(NEB):c.25509+2T>A rs1553518813
NM_001271208.2(NEB):c.25510-1G>C rs1553508368
NM_001271208.2(NEB):c.25534_25535insG (p.Tyr8512Ter) rs1242654062
NM_001271208.2(NEB):c.25606G>T (p.Glu8536Ter) rs1304300842
NM_001271208.2(NEB):c.25613G>A (p.Trp8538Ter) rs1206080778
NM_001271208.2(NEB):c.25648G>T (p.Gly8550Ter) rs776932788
NM_001271208.2(NEB):c.25649del (p.Gly8550fs) rs1205824305

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