ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 187
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HGVS dbSNP
NC_000002.11:g.(?_152352780)_(152354242_?)del
NC_000002.11:g.(?_152353435)_(152353567_?)del
NC_000002.11:g.(?_152353435)_(152354252_?)del
NM_001271208.2(NEB):c.21442A>G (p.Met7148Val) rs750039342
NM_001271208.2(NEB):c.21476G>A (p.Arg7159His) rs201094791
NM_001271208.2(NEB):c.21487T>C (p.Leu7163=) rs114218081
NM_001271208.2(NEB):c.21511A>T (p.Met7171Leu) rs886038447
NM_001271208.2(NEB):c.21523-9A>G rs1553669362
NM_001271208.2(NEB):c.21574G>T (p.Val7192Leu)
NM_001271208.2(NEB):c.21596G>A (p.Arg7199His) rs16830171
NM_001271208.2(NEB):c.21609del (p.Asn7204fs) rs934955715
NM_001271208.2(NEB):c.21624C>T (p.Ser7208=) rs16830170
NM_001271208.2(NEB):c.21651C>T (p.Asn7217=) rs149510427
NM_001271208.2(NEB):c.21669C>A (p.Gly7223=) rs775887037
NM_001271208.2(NEB):c.21684C>T (p.His7228=) rs372877088
NM_001271208.2(NEB):c.21689_21690inv (p.Thr7230Met)
NM_001271208.2(NEB):c.21769T>A (p.Ser7257Thr) rs191722579
NM_001271208.2(NEB):c.21778A>T (p.Thr7260Ser) rs187977960
NM_001271208.2(NEB):c.21790G>C (p.Asp7264His) rs201979610
NM_001271208.2(NEB):c.21794C>T (p.Ala7265Val)
NM_001271208.2(NEB):c.21816_21817dup (p.Asp7273fs) rs1559580467
NM_001271208.2(NEB):c.21825C>T (p.Tyr7275=) rs34718443
NM_001271208.2(NEB):c.21856C>G (p.Gln7286Glu) rs373946758
NM_001271208.2(NEB):c.21862G>A (p.Glu7288Lys)
NM_001271208.2(NEB):c.21902C>T (p.Pro7301Leu) rs367626762
NM_001271208.2(NEB):c.21943G>A (p.Asp7315Asn) rs200945025
NM_001271208.2(NEB):c.21946-6T>A rs767466501
NM_001271208.2(NEB):c.21961G>A (p.Asp7321Asn) rs35625617
NM_001271208.2(NEB):c.21964C>G (p.Arg7322Gly)
NM_001271208.2(NEB):c.21967G>C (p.Glu7323Gln) rs768693028
NM_001271208.2(NEB):c.21968A>G (p.Glu7323Gly)
NM_001271208.2(NEB):c.22021G>A (p.Ala7341Thr) rs1289511955
NM_001271208.2(NEB):c.22068A>G (p.Lys7356=) rs61730765
NM_001271208.2(NEB):c.22075A>C (p.Lys7359Gln)
NM_001271208.2(NEB):c.22099G>A (p.Val7367Ile) rs189609282
NM_001271208.2(NEB):c.22109C>T (p.Thr7370Met) rs767584361
NM_001271208.2(NEB):c.22110G>A (p.Thr7370=) rs201400523
NM_001271208.2(NEB):c.22112C>T (p.Pro7371Leu) rs1559547106
NM_001271208.2(NEB):c.22147G>A (p.Val7383Met) rs200918570
NM_001271208.2(NEB):c.22227C>G (p.Asp7409Glu) rs192402741
NM_001271208.2(NEB):c.22229C>T (p.Thr7410Ile)
NM_001271208.2(NEB):c.22275C>G (p.Tyr7425Ter)
NM_001271208.2(NEB):c.22288G>A (p.Val7430Ile) rs1396168176
NM_001271208.2(NEB):c.22338G>C (p.Glu7446Asp)
NM_001271208.2(NEB):c.22361_22362delinsG (p.Ala7454fs) rs1559534672
NM_001271208.2(NEB):c.22369C>A (p.Gln7457Lys) rs369642754
NM_001271208.2(NEB):c.22377+7T>C rs762551492
NM_001271208.2(NEB):c.22378-10C>T rs781520817
NM_001271208.2(NEB):c.22475G>C (p.Ser7492Thr) rs142454476
NM_001271208.2(NEB):c.22479+6G>A rs749050869
NM_001271208.2(NEB):c.22479+7G>A rs750007608
NM_001271208.2(NEB):c.22517A>G (p.His7506Arg) rs1553641474
NM_001271208.2(NEB):c.22538G>A (p.Arg7513His)
NM_001271208.2(NEB):c.22546A>G (p.Ile7516Val)
NM_001271208.2(NEB):c.22695+2T>C rs200449517
NM_001271208.2(NEB):c.22743C>T (p.Asp7581=) rs372279388
NM_001271208.2(NEB):c.22746del (p.Met7582fs) rs1057515573
NM_001271208.2(NEB):c.22747A>G (p.Lys7583Glu) rs201976154
NM_001271208.2(NEB):c.22752G>A (p.Glu7584=) rs201688876
NM_001271208.2(NEB):c.22768C>T (p.His7590Tyr)
NM_001271208.2(NEB):c.22795A>G (p.Ser7599Gly) rs749222946
NM_001271208.2(NEB):c.22897C>T (p.Gln7633Ter)
NM_001271208.2(NEB):c.22905+9A>G rs144303545
NM_001271208.2(NEB):c.22955A>G (p.Asp7652Gly) rs776739582
NM_001271208.2(NEB):c.22983C>A (p.Ala7661=) rs185574478
NM_001271208.2(NEB):c.23009G>A (p.Gly7670Glu) rs3732309
NM_001271208.2(NEB):c.23011-6C>T rs1449487575
NM_001271208.2(NEB):c.23089C>T (p.His7697Tyr)
NM_001271208.2(NEB):c.23118C>T (p.Ser7706=) rs370873040
NM_001271208.2(NEB):c.23122-3T>C rs111314898
NM_001271208.2(NEB):c.23160G>A (p.Gly7720=) rs563896790
NM_001271208.2(NEB):c.23232+2T>C rs112610938
NM_001271208.2(NEB):c.23246G>A (p.Arg7749Gln) rs200963111
NM_001271208.2(NEB):c.23273G>A (p.Arg7758Lys) rs947053462
NM_001271208.2(NEB):c.23372T>C (p.Met7791Thr) rs201767727
NM_001271208.2(NEB):c.23383A>G (p.Asn7795Asp) rs201189784
NM_001271208.2(NEB):c.23443T>A (p.Ser7815Thr) rs1553614160
NM_001271208.2(NEB):c.23482A>C (p.Met7828Leu) rs199957886
NM_001271208.2(NEB):c.23483T>C (p.Met7828Thr) rs536677256
NM_001271208.2(NEB):c.23486C>T (p.Ser7829Leu) rs41270201
NM_001271208.2(NEB):c.23530C>T (p.Arg7844Trp) rs762220487
NM_001271208.2(NEB):c.23582A>G (p.Asn7861Ser) rs143602832
NM_001271208.2(NEB):c.23600C>T (p.Thr7867Ile) rs34368668
NM_001271208.2(NEB):c.23615C>T (p.Thr7872Met)
NM_001271208.2(NEB):c.23616G>A (p.Thr7872=) rs35808744
NM_001271208.2(NEB):c.23629C>T (p.Arg7877Cys) rs184516994
NM_001271208.2(NEB):c.23660C>T (p.Ser7887Leu) rs200454939
NM_001271208.2(NEB):c.23662-3C>G
NM_001271208.2(NEB):c.23700C>T (p.Ile7900=) rs370825760
NM_001271208.2(NEB):c.23701G>A (p.Gly7901Arg) rs1480807112
NM_001271208.2(NEB):c.23704A>C (p.Lys7902Gln) rs118191309
NM_001271208.2(NEB):c.23714A>T (p.Glu7905Val)
NM_001271208.2(NEB):c.23731C>T (p.Gln7911Ter)
NM_001271208.2(NEB):c.23753C>T (p.Ser7918Leu) rs202191938
NM_001271208.2(NEB):c.23754+10_23754+11del rs772001300
NM_001271208.2(NEB):c.23808A>G (p.Glu7936=) rs779612457
NM_001271208.2(NEB):c.23847+2T>C rs545937015
NM_001271208.2(NEB):c.23868G>C (p.Leu7956Phe) rs201028196
NM_001271208.2(NEB):c.23875G>A (p.Gly7959Ser) rs369602540
NM_001271208.2(NEB):c.23881C>T (p.Pro7961Ser) rs193224180
NM_001271208.2(NEB):c.23945T>G (p.Leu7982Trp) rs200559481
NM_001271208.2(NEB):c.23953_23956dup (p.Asn7986fs) rs1559296376
NM_001271208.2(NEB):c.24010C>T (p.Arg8004Cys) rs201419564
NM_001271208.2(NEB):c.24032C>T (p.Ser8011Leu) rs202137113
NM_001271208.2(NEB):c.24033+4T>C
NM_001271208.2(NEB):c.24072_24075del (p.Pro8025fs) rs756384471
NM_001271208.2(NEB):c.24091G>A (p.Glu8031Lys) rs1202510810
NM_001271208.2(NEB):c.24094C>T (p.Arg8032Ter) rs549794342
NM_001271208.2(NEB):c.24125C>T (p.Ser8042Leu) rs763365852
NM_001271208.2(NEB):c.24129_24133dup (p.Tyr8045fs) rs772009599
NM_001271208.2(NEB):c.24146T>C (p.Val8049Ala) rs200269437
NM_001271208.2(NEB):c.24161C>T (p.Pro8054Leu) rs189655274
NM_001271208.2(NEB):c.24163A>G (p.Ile8055Val) rs144634228
NM_001271208.2(NEB):c.24200A>G (p.Asn8067Ser) rs946188918
NM_001271208.2(NEB):c.24201T>G (p.Asn8067Lys)
NM_001271208.2(NEB):c.24213T>C (p.Phe8071=) rs748169663
NM_001271208.2(NEB):c.24248del (p.Gly8083fs) rs1553556154
NM_001271208.2(NEB):c.24276G>T (p.Met8092Ile)
NM_001271208.2(NEB):c.24277C>T (p.Gln8093Ter)
NM_001271208.2(NEB):c.24294_24297dup (p.Glu8100fs) rs1553555882
NM_001271208.2(NEB):c.24313-7C>T rs113048349
NM_001271208.2(NEB):c.24314_24317dup (p.Leu8106fs) rs781667543
NM_001271208.2(NEB):c.24316_24317dup (p.Leu8106fs) rs1553552384
NM_001271208.2(NEB):c.24369G>A (p.Met8123Ile) rs144709880
NM_001271208.2(NEB):c.24398T>C (p.Ile8133Thr)
NM_001271208.2(NEB):c.24404C>T (p.Ser8135Leu) rs759261311
NM_001271208.2(NEB):c.24405G>C (p.Ser8135=) rs541126160
NM_001271208.2(NEB):c.24408_24410dup (p.Leu8137dup) rs1344099907
NM_001271208.2(NEB):c.24411A>C (p.Leu8137Phe) rs1217235799
NM_001271208.2(NEB):c.24434_24437dup (p.Pro8147fs)
NM_001271208.2(NEB):c.24444_24447del (p.Pro8149fs) rs934111355
NM_001271208.2(NEB):c.24455C>T (p.Pro8152Leu)
NM_001271208.2(NEB):c.24464_24465AG[2] (p.Arg8156fs) rs752582527
NM_001271208.2(NEB):c.24487A>G (p.Asn8163Asp)
NM_001271208.2(NEB):c.24498+1G>A rs775631800
NM_001271208.2(NEB):c.24500_24503dup (p.Leu8168fs) rs762133567
NM_001271208.2(NEB):c.24559C>T (p.Arg8187Ter) rs763364977
NM_001271208.2(NEB):c.24613G>A (p.Gly8205Arg) rs1553537770
NM_001271208.2(NEB):c.24625G>A (p.Ala8209Thr) rs199937246
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.24662G>A (p.Arg8221His)
NM_001271208.2(NEB):c.24684G>A (p.Ser8228=) rs202048855
NM_001271208.2(NEB):c.24684G>C (p.Ser8228=)
NM_001271208.2(NEB):c.24685-1G>C
NM_001271208.2(NEB):c.24693C>G (p.Tyr8231Ter) rs754272530
NM_001271208.2(NEB):c.24720C>T (p.Pro8240=) rs371270146
NM_001271208.2(NEB):c.24750G>A (p.Val8250=) rs769610035
NM_001271208.2(NEB):c.24755G>A (p.Arg8252His)
NM_001271208.2(NEB):c.24776C>T (p.Ser8259Leu) rs746031384
NM_001271208.2(NEB):c.24778-1G>A
NM_001271208.2(NEB):c.24812C>T (p.Pro8271Leu)
NM_001271208.2(NEB):c.24815C>T (p.Thr8272Ile)
NM_001271208.2(NEB):c.24815_24836del (p.Thr8272fs)
NM_001271208.2(NEB):c.24847C>T (p.Arg8283Cys)
NM_001271208.2(NEB):c.24862A>G (p.Ile8288Val) rs551649582
NM_001271208.2(NEB):c.24917C>T (p.Ala8306Val)
NM_001271208.2(NEB):c.24978G>A (p.Thr8326=)
NM_001271208.2(NEB):c.25002G>C (p.Glu8334Asp) rs202145313
NM_001271208.2(NEB):c.25101_25104delinsATTCAA (p.Gln8368fs) rs1553526832
NM_001271208.2(NEB):c.25104G>A (p.Gln8368=) rs774663967
NM_001271208.2(NEB):c.25112T>C (p.Val8371Ala)
NM_001271208.2(NEB):c.25140C>T (p.Asp8380=) rs201825451
NM_001271208.2(NEB):c.25143A>G (p.Gln8381=) rs184319249
NM_001271208.2(NEB):c.25169G>A (p.Arg8390His)
NM_001271208.2(NEB):c.25178G>A (p.Arg8393His)
NM_001271208.2(NEB):c.25194G>A (p.Ser8398=) rs766453942
NM_001271208.2(NEB):c.25235G>A (p.Arg8412Gln)
NM_001271208.2(NEB):c.25267C>T (p.Arg8423Cys)
NM_001271208.2(NEB):c.25268G>A (p.Arg8423His) rs139333406
NM_001271208.2(NEB):c.25270C>T (p.Arg8424Trp) rs373551215
NM_001271208.2(NEB):c.25277G>A (p.Arg8426Gln)
NM_001271208.2(NEB):c.25289G>A (p.Arg8430Gln)
NM_001271208.2(NEB):c.25308_25309inv (p.Ile8437Val)
NM_001271208.2(NEB):c.25319del (p.Gly8440fs) rs1553520266
NM_001271208.2(NEB):c.25361T>C (p.Leu8454Pro)
NM_001271208.2(NEB):c.25365G>A (p.Ser8455=) rs1390774664
NM_001271208.2(NEB):c.25403-11_25403-10del rs1553519312
NM_001271208.2(NEB):c.25441C>T (p.Arg8481Ter) rs200731870
NM_001271208.2(NEB):c.25464A>C (p.Gln8488His)
NM_001271208.2(NEB):c.25472C>T (p.Thr8491Met) rs78592085
NM_001271208.2(NEB):c.25500T>G (p.Ser8500=) rs13031275
NM_001271208.2(NEB):c.25568A>G (p.Lys8523Arg) rs201714437
NM_001271208.2(NEB):c.25603G>A (p.Asp8535Asn)
NM_001271208.2(NEB):c.25647C>T (p.Thr8549=) rs3821324
NM_001271208.2(NEB):c.25660G>A (p.Ala8554Thr)
NM_001271208.2(NEB):c.25669G>A (p.Val8557Ile) rs117861109

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