ClinVar Miner

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

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Gene type:
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Total variants: 169
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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.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.21689_21690inv (p.Thr7230Met)
NM_001271208.2(NEB):c.21709C>T (p.Arg7237Cys)
NM_001271208.2(NEB):c.21769T>A (p.Ser7257Thr) rs191722579
NM_001271208.2(NEB):c.21794C>T (p.Ala7265Val) rs368315910
NM_001271208.2(NEB):c.21862G>A (p.Glu7288Lys) rs745791097
NM_001271208.2(NEB):c.21866C>A (p.Ala7289Asp)
NM_001271208.2(NEB):c.21902C>T (p.Pro7301Leu) rs367626762
NM_001271208.2(NEB):c.21946-6T>A rs767466501
NM_001271208.2(NEB):c.21964C>G (p.Arg7322Gly) rs376072545
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.22075A>C (p.Lys7359Gln) rs756646859
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.22112C>T (p.Pro7371Leu) rs1559547106
NM_001271208.2(NEB):c.22147G>A (p.Val7383Met) rs200918570
NM_001271208.2(NEB):c.22196G>A (p.Gly7399Asp)
NM_001271208.2(NEB):c.22219A>C (p.Thr7407Pro)
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.22378G>T (p.Val7460Phe)
NM_001271208.2(NEB):c.22433G>C (p.Arg7478Pro)
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+6G>A rs749050869
NM_001271208.2(NEB):c.22517A>G (p.His7506Arg) rs1553641474
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.22546A>G (p.Ile7516Val) rs374581669
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.22747A>G (p.Lys7583Glu) rs201976154
NM_001271208.2(NEB):c.22768C>T (p.His7590Tyr) rs746454129
NM_001271208.2(NEB):c.22781C>T (p.Thr7594Ile)
NM_001271208.2(NEB):c.22795A>G (p.Ser7599Gly) rs749222946
NM_001271208.2(NEB):c.22855G>A (p.Asp7619Asn)
NM_001271208.2(NEB):c.22879A>C (p.Lys7627Gln)
NM_001271208.2(NEB):c.22955A>G (p.Asp7652Gly) rs776739582
NM_001271208.2(NEB):c.23089C>T (p.His7697Tyr) rs373852098
NM_001271208.2(NEB):c.23122-3T>C rs111314898
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.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.23383A>G (p.Asn7795Asp) rs201189784
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.23510C>A (p.Thr7837Asn)
NM_001271208.2(NEB):c.23521C>G (p.Gln7841Glu)
NM_001271208.2(NEB):c.23530C>T (p.Arg7844Trp) rs762220487
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.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.23894C>A (p.Thr7965Asn)
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.23998G>C (p.Glu8000Gln)
NM_001271208.2(NEB):c.24010C>T (p.Arg8004Cys) rs201419564
NM_001271208.2(NEB):c.24031T>A (p.Ser8011Thr)
NM_001271208.2(NEB):c.24033+4T>C rs768465696
NM_001271208.2(NEB):c.24062G>C (p.Gly8021Ala)
NM_001271208.2(NEB):c.24091G>A (p.Glu8031Lys) rs1202510810
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.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.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.24463G>A (p.Glu8155Lys)
NM_001271208.2(NEB):c.24487A>G (p.Asn8163Asp) rs960735572
NM_001271208.2(NEB):c.24498G>A (p.Ser8166=)
NM_001271208.2(NEB):c.24559C>G (p.Arg8187Gly)
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.24741G>A (p.Met8247Ile)
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.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.25002G>C (p.Glu8334Asp) rs202145313
NM_001271208.2(NEB):c.25012G>C (p.Gly8338Arg)
NM_001271208.2(NEB):c.25054G>A (p.Val8352Ile)
NM_001271208.2(NEB):c.25112T>C (p.Val8371Ala) rs1574651626
NM_001271208.2(NEB):c.25115T>G (p.Val8372Gly)
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.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.25277G>A (p.Arg8426Gln) rs749034995
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.25361T>C (p.Leu8454Pro) rs370819880
NM_001271208.2(NEB):c.25464A>C (p.Gln8488His) rs377748897
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.25639G>A (p.Gly8547Ser)
NM_001271208.2(NEB):c.25660G>A (p.Ala8554Thr) rs775823432

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