ClinVar Miner

List of variants in gene combination NEB, RIF1 reported as uncertain significance for Nemaline myopathy 2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 277
Download table as spreadsheet
HGVS dbSNP
NC_000002.12:g.(?_151496266)_(151497728_?)del
NC_000002.12:g.(?_151496921)_(151497053_?)del
NC_000002.12:g.(?_151496921)_(151497738_?)del
NM_001271208.2(NEB):c.*201A>T
NM_001271208.2(NEB):c.*212T>C
NM_001271208.2(NEB):c.*316C>T
NM_001271208.2(NEB):c.*36C>T rs773628949
NM_001271208.2(NEB):c.*57C>T rs566096042
NM_001271208.2(NEB):c.*95G>A
NM_001271208.2(NEB):c.21437C>G (p.Ala7146Gly)
NM_001271208.2(NEB):c.21442A>G (p.Met7148Val) rs750039342
NM_001271208.2(NEB):c.21511A>T (p.Met7171Leu) rs886038447
NM_001271208.2(NEB):c.21574G>T (p.Val7192Leu) rs1576490497
NM_001271208.2(NEB):c.21595C>A (p.Arg7199Ser)
NM_001271208.2(NEB):c.21596G>C (p.Arg7199Pro)
NM_001271208.2(NEB):c.21648_21650CAA[1] (p.Asn7217del) rs758160111
NM_001271208.2(NEB):c.21689_21690inv (p.Thr7230Met)
NM_001271208.2(NEB):c.21693C>T (p.Pro7231=)
NM_001271208.2(NEB):c.21709C>T (p.Arg7237Cys)
NM_001271208.2(NEB):c.21769T>A (p.Ser7257Thr) rs191722579
NM_001271208.2(NEB):c.21790G>C (p.Asp7264His) rs201979610
NM_001271208.2(NEB):c.21794C>T (p.Ala7265Val) rs368315910
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) rs745791097
NM_001271208.2(NEB):c.21866C>A (p.Ala7289Asp)
NM_001271208.2(NEB):c.21884A>G (p.Lys7295Arg)
NM_001271208.2(NEB):c.21902C>T (p.Pro7301Leu) rs367626762
NM_001271208.2(NEB):c.21945+13A>C rs75515097
NM_001271208.2(NEB):c.21946-6T>A rs767466501
NM_001271208.2(NEB):c.21964C>G (p.Arg7322Gly) rs376072545
NM_001271208.2(NEB):c.21966G>A (p.Arg7322=) rs372808358
NM_001271208.2(NEB):c.21968A>G (p.Glu7323Gly) rs747282707
NM_001271208.2(NEB):c.21980G>A (p.Gly7327Asp)
NM_001271208.2(NEB):c.22021G>A (p.Ala7341Thr) rs1289511955
NM_001271208.2(NEB):c.22051-2del rs1553647715
NM_001271208.2(NEB):c.22075A>C (p.Lys7359Gln) rs756646859
NM_001271208.2(NEB):c.22078G>A (p.Glu7360Lys) rs747662624
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.22142A>T (p.Asn7381Ile)
NM_001271208.2(NEB):c.22147G>A (p.Val7383Met) rs200918570
NM_001271208.2(NEB):c.22196G>A (p.Gly7399Asp)
NM_001271208.2(NEB):c.22204_22206ACA[1] (p.Thr7403del) rs1553646403
NM_001271208.2(NEB):c.22215A>G (p.Pro7405=) rs539800267
NM_001271208.2(NEB):c.22219A>C (p.Thr7407Pro)
NM_001271208.2(NEB):c.22227C>G (p.Asp7409Glu) rs192402741
NM_001271208.2(NEB):c.22229C>T (p.Thr7410Ile) rs1195608964
NM_001271208.2(NEB):c.22236C>G (p.His7412Gln)
NM_001271208.2(NEB):c.22237G>A (p.Val7413Ile)
NM_001271208.2(NEB):c.22278A>T (p.Lys7426Asn)
NM_001271208.2(NEB):c.22288G>A (p.Val7430Ile) rs1396168176
NM_001271208.2(NEB):c.22292A>G (p.Lys7431Arg) rs201548700
NM_001271208.2(NEB):c.22338G>C (p.Glu7446Asp) rs1576243073
NM_001271208.2(NEB):c.22369C>A (p.Gln7457Lys) rs369642754
NM_001271208.2(NEB):c.22377+2dup rs773465809
NM_001271208.2(NEB):c.22377+7T>C rs762551492
NM_001271208.2(NEB):c.22378-5T>C rs886054929
NM_001271208.2(NEB):c.22378-6_22378-2dup rs758609054
NM_001271208.2(NEB):c.22378G>T (p.Val7460Phe)
NM_001271208.2(NEB):c.22433G>C (p.Arg7478Pro)
NM_001271208.2(NEB):c.22444_22446AAG[1] (p.Lys7483del) rs1553641943
NM_001271208.2(NEB):c.22454C>T (p.Thr7485Ile)
NM_001271208.2(NEB):c.22475G>C (p.Ser7492Thr) rs142454476
NM_001271208.2(NEB):c.22479+13_22479+33dup rs1553641788
NM_001271208.2(NEB):c.22479+6G>A rs749050869
NM_001271208.2(NEB):c.22517A>G (p.His7506Arg) rs1553641474
NM_001271208.2(NEB):c.22534G>A (p.Gly7512Ser) rs764674361
NM_001271208.2(NEB):c.22537C>T (p.Arg7513Cys) rs202050860
NM_001271208.2(NEB):c.22538G>A (p.Arg7513His) rs767207985
NM_001271208.2(NEB):c.22544A>C (p.Asp7515Ala) rs886054928
NM_001271208.2(NEB):c.22546A>G (p.Ile7516Val) rs374581669
NM_001271208.2(NEB):c.22607A>G (p.Asp7536Gly) rs771620082
NM_001271208.2(NEB):c.22609A>G (p.Lys7537Glu)
NM_001271208.2(NEB):c.22640C>T (p.Pro7547Leu)
NM_001271208.2(NEB):c.22660A>G (p.Lys7554Glu)
NM_001271208.2(NEB):c.22695+2T>C rs200449517
NM_001271208.2(NEB):c.22696-3C>T
NM_001271208.2(NEB):c.22747A>G (p.Lys7583Glu) rs201976154
NM_001271208.2(NEB):c.22747_22749del (p.Lys7583del) rs1553629857
NM_001271208.2(NEB):c.22752G>A (p.Glu7584=) rs201688876
NM_001271208.2(NEB):c.22768C>T (p.His7590Tyr) rs746454129
NM_001271208.2(NEB):c.22781C>T (p.Thr7594Ile)
NM_001271208.2(NEB):c.22782A>T (p.Thr7594=) rs778662915
NM_001271208.2(NEB):c.22795A>G (p.Ser7599Gly) rs749222946
NM_001271208.2(NEB):c.22810_22812AAG[2] (p.Lys7606del) rs760161843
NM_001271208.2(NEB):c.22855G>A (p.Asp7619Asn)
NM_001271208.2(NEB):c.22879A>C (p.Lys7627Gln)
NM_001271208.2(NEB):c.22905+9A>G rs144303545
NM_001271208.2(NEB):c.22906-7T>C
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.23010+2dup rs1553623381
NM_001271208.2(NEB):c.23011-6_23011-2del rs1014710501
NM_001271208.2(NEB):c.23075C>T (p.Thr7692Met) rs770889470
NM_001271208.2(NEB):c.23089C>T (p.His7697Tyr) rs373852098
NM_001271208.2(NEB):c.23091T>C (p.His7697=) rs149606244
NM_001271208.2(NEB):c.23118C>T (p.Ser7706=) rs370873040
NM_001271208.2(NEB):c.23122-3T>C rs111314898
NM_001271208.2(NEB):c.23129A>T (p.Tyr7710Phe)
NM_001271208.2(NEB):c.23153T>C (p.Ile7718Thr)
NM_001271208.2(NEB):c.23155C>T (p.Arg7719Cys)
NM_001271208.2(NEB):c.23156G>A (p.Arg7719His)
NM_001271208.2(NEB):c.23159G>A (p.Gly7720Glu)
NM_001271208.2(NEB):c.23232+2T>C rs112610938
NM_001271208.2(NEB):c.23232+4G>A rs764457781
NM_001271208.2(NEB):c.23254G>C (p.Glu7752Gln) rs766321668
NM_001271208.2(NEB):c.23273G>A (p.Arg7758Lys) rs947053462
NM_001271208.2(NEB):c.23294A>G (p.Asn7765Ser)
NM_001271208.2(NEB):c.23303C>T (p.Pro7768Leu)
NM_001271208.2(NEB):c.23338G>T (p.Ala7780Ser)
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.23384A>G (p.Asn7795Ser) rs1232744915
NM_001271208.2(NEB):c.23420A>G (p.His7807Arg)
NM_001271208.2(NEB):c.23425_23427CAA[1] (p.Gln7810del) rs1553614214
NM_001271208.2(NEB):c.23443T>A (p.Ser7815Thr) rs1553614160
NM_001271208.2(NEB):c.23446A>G (p.Ser7816Gly)
NM_001271208.2(NEB):c.23451+5G>A
NM_001271208.2(NEB):c.23455A>G (p.Lys7819Glu)
NM_001271208.2(NEB):c.23464G>A (p.Glu7822Lys)
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.23483_23485del (p.Met7828_Ser7829delinsThr) rs1553603652
NM_001271208.2(NEB):c.23487G>A (p.Ser7829=) rs770713773
NM_001271208.2(NEB):c.23510C>A (p.Thr7837Asn)
NM_001271208.2(NEB):c.23521C>G (p.Gln7841Glu)
NM_001271208.2(NEB):c.23523G>T (p.Gln7841His) rs765789028
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.23602_23604GTT[1] (p.Val7869del) rs1553601408
NM_001271208.2(NEB):c.23615C>T (p.Thr7872Met) rs370108917
NM_001271208.2(NEB):c.23630G>A (p.Arg7877His)
NM_001271208.2(NEB):c.23660C>T (p.Ser7887Leu) rs200454939
NM_001271208.2(NEB):c.23662-3C>G rs374499643
NM_001271208.2(NEB):c.23701G>A (p.Gly7901Arg) rs1480807112
NM_001271208.2(NEB):c.23714A>T (p.Glu7905Val) rs1454960791
NM_001271208.2(NEB):c.23742C>G (p.Asp7914Glu)
NM_001271208.2(NEB):c.23743_23745del (p.His7915del) rs1553598770
NM_001271208.2(NEB):c.23753C>T (p.Ser7918Leu) rs202191938
NM_001271208.2(NEB):c.23815C>T (p.Arg7939Cys)
NM_001271208.2(NEB):c.23859_23864dup (p.Lys7953_Glu7954dup)
NM_001271208.2(NEB):c.23870G>C (p.Gly7957Ala)
NM_001271208.2(NEB):c.23875G>A (p.Gly7959Ser) rs369602540
NM_001271208.2(NEB):c.23878A>G (p.Ile7960Val)
NM_001271208.2(NEB):c.23881C>T (p.Pro7961Ser) rs193224180
NM_001271208.2(NEB):c.23894C>A (p.Thr7965Asn)
NM_001271208.2(NEB):c.23903T>C (p.Ile7968Thr)
NM_001271208.2(NEB):c.23908A>G (p.Arg7970Gly)
NM_001271208.2(NEB):c.23917C>T (p.Arg7973Cys)
NM_001271208.2(NEB):c.23945T>G (p.Leu7982Trp) rs200559481
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.23998G>C (p.Glu8000Gln)
NM_001271208.2(NEB):c.24010C>T (p.Arg8004Cys) rs201419564
NM_001271208.2(NEB):c.24015_24018dup (p.Glu8007fs) rs761694639
NM_001271208.2(NEB):c.24031T>A (p.Ser8011Thr)
NM_001271208.2(NEB):c.24032C>T (p.Ser8011Leu) rs202137113
NM_001271208.2(NEB):c.24033+4T>C rs768465696
NM_001271208.2(NEB):c.24034-1_24035dup rs1427250696
NM_001271208.2(NEB):c.24034-2A>C rs1553569122
NM_001271208.2(NEB):c.24034-7CA[2] rs1217738625
NM_001271208.2(NEB):c.24042C>G (p.Tyr8014Ter) rs779173742
NM_001271208.2(NEB):c.24062G>C (p.Gly8021Ala)
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.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.24125C>T (p.Ser8042Leu) rs763365852
NM_001271208.2(NEB):c.24146T>C (p.Val8049Ala) rs200269437
NM_001271208.2(NEB):c.24149G>A (p.Gly8050Glu)
NM_001271208.2(NEB):c.24187A>G (p.Arg8063Gly)
NM_001271208.2(NEB):c.24200A>G (p.Asn8067Ser) rs946188918
NM_001271208.2(NEB):c.24201T>G (p.Asn8067Lys) rs770023115
NM_001271208.2(NEB):c.24219G>T (p.Ser8073=)
NM_001271208.2(NEB):c.24220-151C>A rs1575076895
NM_001271208.2(NEB):c.24220G>T (p.Val8074Leu)
NM_001271208.2(NEB):c.24263T>C (p.Ile8088Thr)
NM_001271208.2(NEB):c.24276G>T (p.Met8092Ile) rs758996758
NM_001271208.2(NEB):c.24312G>A (p.Ser8104=) rs763193315
NM_001271208.2(NEB):c.24315_24317dup (p.Leu8106dup) rs781667543
NM_001271208.2(NEB):c.24367_24369dup (p.Met8123dup) rs769252768
NM_001271208.2(NEB):c.24380A>G (p.Lys8127Arg)
NM_001271208.2(NEB):c.24398T>C (p.Ile8133Thr) rs372228043
NM_001271208.2(NEB):c.24398_24400dup (p.Ile8133dup) rs780724946
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.24455C>T (p.Pro8152Leu) rs541150975
NM_001271208.2(NEB):c.24460_24462dup (p.Met8154dup) rs942843328
NM_001271208.2(NEB):c.24463G>A (p.Glu8155Lys)
NM_001271208.2(NEB):c.24480_24482dup (p.Gln8161_Glu8162insHis) rs1372551649
NM_001271208.2(NEB):c.24487A>G (p.Asn8163Asp) rs960735572
NM_001271208.2(NEB):c.24491_24493dup (p.Ile8164dup) rs767474018
NM_001271208.2(NEB):c.24498G>A (p.Ser8166=)
NM_001271208.2(NEB):c.24554T>C (p.Met8185Thr) rs774559645
NM_001271208.2(NEB):c.24559C>G (p.Arg8187Gly)
NM_001271208.2(NEB):c.24577_24579del (p.Glu8193del) rs1553544463
NM_001271208.2(NEB):c.24590C>T (p.Ser8197Leu)
NM_001271208.2(NEB):c.24613G>A (p.Gly8205Arg) rs1553537770
NM_001271208.2(NEB):c.24614G>A (p.Gly8205Glu) rs398124169
NM_001271208.2(NEB):c.24625G>A (p.Ala8209Thr) rs199937246
NM_001271208.2(NEB):c.24662G>A (p.Arg8221His) rs759962661
NM_001271208.2(NEB):c.24684G>C (p.Ser8228=) rs202048855
NM_001271208.2(NEB):c.24741G>A (p.Met8247Ile)
NM_001271208.2(NEB):c.24745A>G (p.Arg8249Gly) rs772803200
NM_001271208.2(NEB):c.24755G>A (p.Arg8252His) rs201291446
NM_001271208.2(NEB):c.24776C>T (p.Ser8259Leu) rs746031384
NM_001271208.2(NEB):c.24812C>T (p.Pro8271Leu) rs571935637
NM_001271208.2(NEB):c.24815C>T (p.Thr8272Ile) rs369083039
NM_001271208.2(NEB):c.24834G>A (p.Met8278Ile)
NM_001271208.2(NEB):c.24838A>G (p.Arg8280Gly)
NM_001271208.2(NEB):c.24847C>T (p.Arg8283Cys) rs748561855
NM_001271208.2(NEB):c.24848G>A (p.Arg8283His)
NM_001271208.2(NEB):c.24862A>G (p.Ile8288Val) rs551649582
NM_001271208.2(NEB):c.24917C>T (p.Ala8306Val) rs749977606
NM_001271208.2(NEB):c.24946C>T (p.Arg8316Trp)
NM_001271208.2(NEB):c.24947G>A (p.Arg8316Gln)
NM_001271208.2(NEB):c.24964C>T (p.Arg8322Trp)
NM_001271208.2(NEB):c.24978G>A (p.Thr8326=) rs779321695
NM_001271208.2(NEB):c.24979-8C>T rs200902944
NM_001271208.2(NEB):c.24988_24990del (p.His8330del) rs1553527955
NM_001271208.2(NEB):c.25002G>C (p.Glu8334Asp) rs202145313
NM_001271208.2(NEB):c.25012G>C (p.Gly8338Arg)
NM_001271208.2(NEB):c.25024C>A (p.Pro8342Thr) rs886054927
NM_001271208.2(NEB):c.25054G>A (p.Val8352Ile)
NM_001271208.2(NEB):c.25059_25061GAA[1] (p.Lys8354del) rs755822172
NM_001271208.2(NEB):c.25112T>C (p.Val8371Ala) rs1574651626
NM_001271208.2(NEB):c.25115T>G (p.Val8372Gly)
NM_001271208.2(NEB):c.25133G>A (p.Arg8378Gln) rs886054926
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.25160C>T (p.Thr8387Ile)
NM_001271208.2(NEB):c.25169G>A (p.Arg8390His) rs778972474
NM_001271208.2(NEB):c.25178G>A (p.Arg8393His) rs796797375
NM_001271208.2(NEB):c.25194G>A (p.Ser8398=) rs766453942
NM_001271208.2(NEB):c.25210C>G (p.Pro8404Ala)
NM_001271208.2(NEB):c.25212A>G (p.Pro8404=) rs763433145
NM_001271208.2(NEB):c.25235G>A (p.Arg8412Gln) rs369174368
NM_001271208.2(NEB):c.25255+3G>A
NM_001271208.2(NEB):c.25267C>T (p.Arg8423Cys) rs371600800
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.25276C>T (p.Arg8426Trp)
NM_001271208.2(NEB):c.25277G>A (p.Arg8426Gln) rs749034995
NM_001271208.2(NEB):c.25287_25292del (p.Arg8430_Ser8431del) rs1553520388
NM_001271208.2(NEB):c.25289G>A (p.Arg8430Gln) rs779983347
NM_001271208.2(NEB):c.25308_25309inv (p.Ile8437Val)
NM_001271208.2(NEB):c.25313G>A (p.Ser8438Asn)
NM_001271208.2(NEB):c.25319del (p.Gly8440fs) rs1553520266
NM_001271208.2(NEB):c.25324G>A (p.Glu8442Lys)
NM_001271208.2(NEB):c.25361T>C (p.Leu8454Pro) rs370819880
NM_001271208.2(NEB):c.25363T>C (p.Ser8455Pro) rs886054925
NM_001271208.2(NEB):c.25450_25452del (p.Ser8484del) rs1553519071
NM_001271208.2(NEB):c.25464A>C (p.Gln8488His) rs377748897
NM_001271208.2(NEB):c.25472C>T (p.Thr8491Met) rs78592085
NM_001271208.2(NEB):c.25510-1G>C rs1553508368
NM_001271208.2(NEB):c.25519C>T (p.Arg8507Cys) rs542706227
NM_001271208.2(NEB):c.25520G>A (p.Arg8507His)
NM_001271208.2(NEB):c.25534_25535insG (p.Tyr8512Ter) rs1242654062
NM_001271208.2(NEB):c.25568A>G (p.Lys8523Arg) rs201714437
NM_001271208.2(NEB):c.25603G>A (p.Asp8535Asn) rs1574251962
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.25639G>A (p.Gly8547Ser)
NM_001271208.2(NEB):c.25639_25640insTATGCACTGTGCAGAGGACTG (p.Gly8547_Arg8548insValCysThrValGlnArgThr) rs1211056097
NM_001271208.2(NEB):c.25648G>T (p.Gly8550Ter) rs776932788
NM_001271208.2(NEB):c.25649del (p.Gly8550fs) rs1205824305
NM_001271208.2(NEB):c.25660G>A (p.Ala8554Thr) rs775823432
NM_001271208.2(NEB):c.25669G>A (p.Val8557Ile) rs117861109
NM_001271208.2(NEB):c.25678A>G (p.Ile8560Val)
NM_004543.5(NEB):c.18826-1350_18826-1348dup rs1553552449

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.