ClinVar Miner

List of variants in gene combination NEB, RIF1 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 234
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met) rs78592085 0.00208
NM_001164508.2(NEB):c.21685G>C (p.Asp7229His) rs201979610 0.00182
NM_001164508.2(NEB):c.22878C>A (p.Ala7626=) rs185574478 0.00145
NM_001164508.2(NEB):c.23776C>T (p.Pro7926Ser) rs193224180 0.00140
NM_001164508.2(NEB):c.25035C>T (p.Asp8345=) rs201825451 0.00123
NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr) rs201767727 0.00108
NM_001164508.2(NEB):c.25038A>G (p.Gln8346=) rs184319249 0.00069
NM_001164508.2(NEB):c.23141G>A (p.Arg7714Gln) rs200963111 0.00064
NM_001164508.2(NEB):c.23524C>T (p.Arg7842Cys) rs184516994 0.00050
NM_001164508.2(NEB):c.23418G>T (p.Gln7806His) rs765789028 0.00044
NM_001164508.2(NEB):c.23557-3C>G rs374499643 0.00044
NM_001164508.2(NEB):c.23905C>T (p.Arg7969Cys) rs201419564 0.00038
NM_001164508.2(NEB):c.21994G>A (p.Val7332Ile) rs189609282 0.00037
NM_001164508.2(NEB):c.21751C>G (p.Gln7251Glu) rs373946758 0.00035
NM_001164508.2(NEB):c.22370G>C (p.Ser7457Thr) rs142454476 0.00035
NM_001164508.2(NEB):c.25463A>G (p.Lys8488Arg) rs201714437 0.00035
NM_001164508.2(NEB):c.22548G>C (p.Gln7516His) rs200776925 0.00031
NM_001164508.2(NEB):c.23013C>T (p.Ser7671=) rs370873040 0.00029
NM_001164508.2(NEB):c.21838G>A (p.Asp7280Asn) rs200945025 0.00028
NM_001164508.2(NEB):c.24453G>A (p.Glu8151=) rs372540293 0.00027
NM_001164508.2(NEB):c.24897G>C (p.Glu8299Asp) rs202145313 0.00026
NM_001164508.2(NEB):c.22108C>G (p.Pro7370Ala) rs200304547 0.00024
NM_001164508.2(NEB):c.23648C>T (p.Ser7883Leu) rs202191938 0.00024
NM_001164508.2(NEB):c.25141A>C (p.Met8381Leu) rs147872436 0.00024
NM_001164508.2(NEB):c.23278A>G (p.Asn7760Asp) rs201189784 0.00022
NM_001164508.2(NEB):c.21664T>A (p.Ser7222Thr) rs191722579 0.00021
NM_001164508.2(NEB):c.22432C>T (p.Arg7478Cys) rs202050860 0.00021
NM_001164508.2(NEB):c.24520G>A (p.Ala8174Thr) rs199937246 0.00018
NM_001164508.2(NEB):c.24096T>G (p.Asn8032Lys) rs770023115 0.00017
NM_001164508.2(NEB):c.21797C>T (p.Pro7266Leu) rs367626762 0.00016
NM_001164508.2(NEB):c.24041T>C (p.Val8014Ala) rs200269437 0.00016
NM_001164508.2(NEB):c.24841C>T (p.Arg8281Trp) rs200165006 0.00016
NM_001164508.2(NEB):c.22535C>T (p.Pro7512Leu) rs376609115 0.00015
NM_001164508.2(NEB):c.22642A>G (p.Lys7548Glu) rs201976154 0.00014
NM_001164508.2(NEB):c.21406A>T (p.Met7136Leu) rs886038447 0.00012
NM_001164508.2(NEB):c.23927C>T (p.Ser7976Leu) rs202137113 0.00011
NM_001164508.2(NEB):c.24757A>G (p.Ile8253Val) rs551649582 0.00011
NM_001164508.2(NEB):c.25165C>T (p.Arg8389Trp) rs373551215 0.00011
NM_001164508.2(NEB):c.21757G>A (p.Glu7253Lys) rs745791097 0.00009
NM_001164508.2(NEB):c.23763G>C (p.Leu7921Phe) rs201028196 0.00009
NM_001164508.2(NEB):c.23770G>A (p.Gly7924Ser) rs369602540 0.00009
NM_001164508.2(NEB):c.23812C>T (p.Arg7938Cys) rs372117694 0.00009
NM_001164508.2(NEB):c.22341G>C (p.Lys7447Asn) rs544200886 0.00008
NM_001164508.2(NEB):c.22004C>T (p.Thr7335Met) rs767584361 0.00007
NM_001164508.2(NEB):c.23378T>C (p.Met7793Thr) rs536677256 0.00007
NM_001164507.2(NEB):c.21341G>A (p.Arg7114Gln) rs372284984 0.00006
NM_001164508.2(NEB):c.21337A>G (p.Met7113Val) rs750039342 0.00006
NM_001164508.2(NEB):c.22187A>G (p.Lys7396Arg) rs201548700 0.00006
NM_001164508.2(NEB):c.22832G>A (p.Arg7611Gln) rs766072117 0.00006
NM_001164508.2(NEB):c.23051G>A (p.Arg7684His) rs372699411 0.00006
NM_001164508.2(NEB):c.23083C>A (p.Pro7695Thr) rs757006805 0.00006
NM_001164508.2(NEB):c.24171G>T (p.Met8057Ile) rs758996758 0.00006
NM_001164508.2(NEB):c.25260G>A (p.Ser8420=) rs1390774664 0.00006
NM_001164508.2(NEB):c.23185G>A (p.Ala7729Thr) rs886038449 0.00005
NM_001164508.2(NEB):c.23510C>T (p.Thr7837Met) rs370108917 0.00005
NM_001164507.2(NEB):c.21340C>T (p.Arg7114Trp) rs186686151 0.00004
NM_001164508.2(NEB):c.21417+3A>G rs148950085 0.00004
NM_001164508.2(NEB):c.21863A>G (p.Glu7288Gly) rs747282707 0.00004
NM_001164508.2(NEB):c.22183G>A (p.Val7395Ile) rs1396168176 0.00004
NM_001164508.2(NEB):c.23525G>A (p.Arg7842His) rs369514998 0.00004
NM_001164508.2(NEB):c.23789C>A (p.Thr7930Asn) rs760905651 0.00004
NM_001164508.2(NEB):c.24485C>T (p.Ser8162Leu) rs541908352 0.00004
NM_001164508.2(NEB):c.24574A>G (p.Ser8192Gly) rs141240053 0.00004
NM_001164508.2(NEB):c.24650G>A (p.Arg8217His) rs201291446 0.00004
NM_001164508.2(NEB):c.24671C>T (p.Ser8224Leu) rs746031384 0.00004
NM_001164508.2(NEB):c.25064G>A (p.Arg8355His) rs778972474 0.00004
NM_001164508.2(NEB):c.25073G>A (p.Arg8358His) rs796797375 0.00004
NM_001164508.2(NEB):c.25415G>A (p.Arg8472His) rs368346105 0.00004
NM_001164508.2(NEB):c.21604C>T (p.Arg7202Cys) rs200826420 0.00003
NM_001164508.2(NEB):c.21779A>G (p.Lys7260Arg) rs200250294 0.00003
NM_001164508.2(NEB):c.22110A>G (p.Pro7370=) rs539800267 0.00003
NM_001164508.2(NEB):c.22429G>A (p.Gly7477Ser) rs764674361 0.00003
NM_001164508.2(NEB):c.23149G>C (p.Glu7717Gln) rs766321668 0.00003
NM_001164508.2(NEB):c.23416C>G (p.Gln7806Glu) rs750689059 0.00003
NM_001164508.2(NEB):c.24299C>T (p.Ser8100Leu) rs759261311 0.00003
NM_001164508.2(NEB):c.24350C>T (p.Pro8117Leu) rs541150975 0.00003
NM_001164508.2(NEB):c.24457G>A (p.Val8153Ile) rs1482662133 0.00003
NM_001164508.2(NEB):c.24707C>T (p.Pro8236Leu) rs571935637 0.00003
NM_001164508.2(NEB):c.25162C>T (p.Arg8388Cys) rs371600800 0.00003
NM_001164508.2(NEB):c.25172G>A (p.Arg8391Gln) rs749034995 0.00003
NM_001164508.2(NEB):c.25445C>G (p.Ala8482Gly) rs774603877 0.00003
NM_001164508.2(NEB):c.25555G>A (p.Ala8519Thr) rs775823432 0.00003
NM_001164507.2(NEB):c.21348T>A (p.Asp7116Glu) rs199934793 0.00002
NM_001164508.2(NEB):c.21401C>T (p.Ser7134Leu) rs1199851750 0.00002
NM_001164508.2(NEB):c.21486C>T (p.His7162=) rs146637177 0.00002
NM_001164508.2(NEB):c.22159G>C (p.Asp7387His) rs770527289 0.00002
NM_001164508.2(NEB):c.22276G>A (p.Ala7426Thr) rs765921628 0.00002
NM_001164508.2(NEB):c.22414G>A (p.Gly7472Ser) rs376101302 0.00002
NM_001164508.2(NEB):c.22617A>T (p.Lys7539Asn) rs755199802 0.00002
NM_001164508.2(NEB):c.22984C>T (p.His7662Tyr) rs373852098 0.00002
NM_001164508.2(NEB):c.23326G>A (p.Val7776Ile) rs779818222 0.00002
NM_001164508.2(NEB):c.23637C>G (p.Asp7879Glu) rs374029795 0.00002
NM_001164508.2(NEB):c.23650-5T>G rs773618223 0.00002
NM_001164508.2(NEB):c.24021G>A (p.Ser8007=) rs557688789 0.00002
NM_001164508.2(NEB):c.24040G>A (p.Val8014Ile) rs182325166 0.00002
NM_001164508.2(NEB):c.24137G>A (p.Gly8046Glu) rs766357828 0.00002
NM_001164508.2(NEB):c.24527C>T (p.Pro8176Leu) rs751680308 0.00002
NM_001164508.2(NEB):c.24557G>A (p.Arg8186His) rs759962661 0.00002
NM_001164508.2(NEB):c.24645G>A (p.Val8215=) rs769610035 0.00002
NM_001164508.2(NEB):c.24742C>T (p.Arg8248Cys) rs748561855 0.00002
NM_001164508.2(NEB):c.25171C>T (p.Arg8391Trp) rs561904743 0.00002
NM_001164507.2(NEB):c.21319T>C (p.Tyr7107His) rs1200802961 0.00001
NM_001164507.2(NEB):c.21363A>G (p.Val7121=) rs202172327 0.00001
NM_001164508.2(NEB):c.21466A>G (p.Ile7156Val) rs745586435 0.00001
NM_001164508.2(NEB):c.21566A>T (p.Tyr7189Phe) rs794727042 0.00001
NM_001164508.2(NEB):c.21590T>C (p.Met7197Thr) rs1229421352 0.00001
NM_001164508.2(NEB):c.21734A>G (p.Asn7245Ser) rs751872533 0.00001
NM_001164508.2(NEB):c.21761C>A (p.Ala7254Asp) rs778063345 0.00001
NM_001164508.2(NEB):c.21970A>C (p.Lys7324Gln) rs756646859 0.00001
NM_001164508.2(NEB):c.22022C>T (p.Ala7341Val) rs550296441 0.00001
NM_001164508.2(NEB):c.22268G>A (p.Ser7423Asn) rs759974940 0.00001
NM_001164508.2(NEB):c.22396C>T (p.Arg7466Cys) rs768826001 0.00001
NM_001164508.2(NEB):c.22672A>T (p.Asn7558Tyr) rs771643485 0.00001
NM_001164508.2(NEB):c.22741A>G (p.Thr7581Ala) rs747100627 0.00001
NM_001164508.2(NEB):c.22774A>C (p.Lys7592Gln) rs903199022 0.00001
NM_001164508.2(NEB):c.22850A>G (p.Asp7617Gly) rs776739582 0.00001
NM_001164508.2(NEB):c.23359G>A (p.Glu7787Lys) rs1476557676 0.00001
NM_001164508.2(NEB):c.23803A>G (p.Arg7935Gly) rs1318564274 0.00001
NM_001164508.2(NEB):c.23986G>A (p.Glu7996Lys) rs1202510810 0.00001
NM_001164508.2(NEB):c.23987A>T (p.Glu7996Val) rs1312647029 0.00001
NM_001164508.2(NEB):c.24382A>G (p.Asn8128Asp) rs960735572 0.00001
NM_001164508.2(NEB):c.24509G>A (p.Gly8170Glu) rs398124169 0.00001
NM_001164508.2(NEB):c.24556C>T (p.Arg8186Cys) rs765313781 0.00001
NM_001164508.2(NEB):c.24729G>A (p.Met8243Ile) rs2058043130 0.00001
NM_001164508.2(NEB):c.24836T>C (p.Met8279Thr) rs1340719168 0.00001
NM_001164508.2(NEB):c.25072C>T (p.Arg8358Cys) rs757107530 0.00001
NM_001164508.2(NEB):c.25150+3G>A rs556224656 0.00001
NM_001164508.2(NEB):c.25259C>T (p.Ser8420Leu) rs949111967 0.00001
NM_001164508.2(NEB):c.25298-12_25298-10del rs1296705502 0.00001
NM_001164508.2(NEB):c.25433T>C (p.Met8478Thr) rs141449286 0.00001
NM_001164507.2(NEB):c.21334G>A (p.Glu7112Lys)
NM_001164507.2(NEB):c.21352T>C (p.Tyr7118His)
NM_001164507.2(NEB):c.21361G>A (p.Val7121Ile) rs2153521567
NM_001164507.2(NEB):c.21403G>A (p.Asp7135Asn)
NM_001164508.2(NEB):c.21313-7T>A rs916066756
NM_001164508.2(NEB):c.21332C>G (p.Ala7111Gly) rs1279646895
NM_001164508.2(NEB):c.21358A>C (p.Asn7120His)
NM_001164508.2(NEB):c.21368T>G (p.Leu7123Arg)
NM_001164508.2(NEB):c.21392T>C (p.Leu7131Pro) rs2092301005
NM_001164508.2(NEB):c.21399T>A (p.Asn7133Lys)
NM_001164508.2(NEB):c.21408G>A (p.Met7136Ile)
NM_001164508.2(NEB):c.21541T>C (p.Tyr7181His)
NM_001164508.2(NEB):c.21572C>T (p.Thr7191Ile)
NM_001164508.2(NEB):c.21584C>T (p.Thr7195Ile)
NM_001164508.2(NEB):c.21584_21585inv (p.Thr7195Met)
NM_001164508.2(NEB):c.21656G>T (p.Arg7219Ile) rs913038475
NM_001164508.2(NEB):c.21790G>C (p.Asp7264His) rs780337761
NM_001164508.2(NEB):c.21859C>T (p.Arg7287Trp)
NM_001164508.2(NEB):c.21868C>T (p.Leu7290Phe)
NM_001164508.2(NEB):c.21901A>C (p.Lys7301Gln)
NM_001164508.2(NEB):c.21979G>C (p.Gly7327Arg)
NM_001164508.2(NEB):c.22000G>C (p.Asp7334His)
NM_001164508.2(NEB):c.22090G>C (p.Gly7364Arg) rs2085588572
NM_001164508.2(NEB):c.22132G>A (p.Val7378Ile) rs764524918
NM_001164508.2(NEB):c.22411C>T (p.His7471Tyr)
NM_001164508.2(NEB):c.22420A>T (p.Ser7474Cys)
NM_001164508.2(NEB):c.22501G>T (p.Asp7501Tyr)
NM_001164508.2(NEB):c.22535C>G (p.Pro7512Arg) rs376609115
NM_001164508.2(NEB):c.22562T>C (p.Met7521Thr)
NM_001164508.2(NEB):c.22639A>G (p.Met7547Val)
NM_001164508.2(NEB):c.22642_22644del (p.Lys7548del) rs1553629857
NM_001164508.2(NEB):c.22705AAG[2] (p.Lys7571del) rs760161843
NM_001164508.2(NEB):c.22846C>A (p.Leu7616Met)
NM_001164508.2(NEB):c.22905+7C>T rs1426040506
NM_001164508.2(NEB):c.22990A>C (p.Lys7664Gln)
NM_001164508.2(NEB):c.23020G>C (p.Glu7674Gln)
NM_001164508.2(NEB):c.23081C>T (p.Thr7694Ile)
NM_001164508.2(NEB):c.23146C>A (p.Leu7716Met)
NM_001164508.2(NEB):c.23172C>G (p.Gly7724=)
NM_001164508.2(NEB):c.23186C>T (p.Ala7729Val) rs1284612506
NM_001164508.2(NEB):c.23435A>G (p.Gln7812Arg)
NM_001164508.2(NEB):c.23470C>A (p.Leu7824Ile)
NM_001164508.2(NEB):c.23500G>T (p.Val7834Phe) rs1553601424
NM_001164508.2(NEB):c.23537A>C (p.Asn7846Thr)
NM_001164508.2(NEB):c.23544G>T (p.Lys7848Asn)
NM_001164508.2(NEB):c.23556G>A (p.Ser7852=)
NM_001164508.2(NEB):c.23610G>C (p.Glu7870Asp)
NM_001164508.2(NEB):c.23620G>A (p.Val7874Met)
NM_001164508.2(NEB):c.23666C>G (p.Ala7889Gly) rs2153171689
NM_001164508.2(NEB):c.23683C>A (p.Pro7895Thr)
NM_001164508.2(NEB):c.23696T>C (p.Leu7899Pro)
NM_001164508.2(NEB):c.23704G>T (p.Val7902Leu) rs2153171171
NM_001164508.2(NEB):c.23723C>G (p.Thr7908Arg)
NM_001164508.2(NEB):c.23741C>T (p.Ser7914Leu)
NM_001164508.2(NEB):c.23742+5T>C rs1553594314
NM_001164508.2(NEB):c.23743G>T (p.Val7915Phe)
NM_001164508.2(NEB):c.23754_23759dup (p.Lys7918_Glu7919dup) rs778176240
NM_001164508.2(NEB):c.23798T>C (p.Ile7933Thr) rs140967744
NM_001164508.2(NEB):c.23834C>T (p.Ser7945Leu)
NM_001164508.2(NEB):c.23916G>T (p.Glu7972Asp)
NM_001164508.2(NEB):c.23948T>G (p.Leu7983Trp)
NM_001164508.2(NEB):c.23984T>C (p.Met7995Thr) rs1064796521
NM_001164508.2(NEB):c.24086T>C (p.Val8029Ala) rs2153021060
NM_001164508.2(NEB):c.24114G>T (p.Ser8038=) rs781581005
NM_001164508.2(NEB):c.24208-7C>A rs113048349
NM_001164508.2(NEB):c.24208G>A (p.Val8070Met)
NM_001164508.2(NEB):c.24269G>C (p.Arg8090Thr)
NM_001164508.2(NEB):c.24292A>G (p.Ile8098Val)
NM_001164508.2(NEB):c.24293_24295dup (p.Ile8098dup) rs780724946
NM_001164508.2(NEB):c.24300G>C (p.Ser8100=) rs541126160
NM_001164508.2(NEB):c.24301-3C>G
NM_001164508.2(NEB):c.24338T>C (p.Leu8113Pro) rs1057524553
NM_001164508.2(NEB):c.24352G>C (p.Glu8118Gln)
NM_001164508.2(NEB):c.24355_24357dup (p.Met8119dup) rs942843328
NM_001164508.2(NEB):c.24486+9C>T
NM_001164508.2(NEB):c.24502_24504dup (p.Asn8168dup) rs1057518617
NM_001164508.2(NEB):c.24575G>C (p.Ser8192Thr) rs2152874768
NM_001164508.2(NEB):c.24620C>G (p.Pro8207Arg)
NM_001164508.2(NEB):c.24652A>C (p.Asn8218His)
NM_001164508.2(NEB):c.24657A>T (p.Gln8219His)
NM_001164508.2(NEB):c.24761G>T (p.Ser8254Ile)
NM_001164508.2(NEB):c.24779A>G (p.Asp8260Gly)
NM_001164508.2(NEB):c.24832G>A (p.Glu8278Lys)
NM_001164508.2(NEB):c.24839G>A (p.Arg8280Lys) rs759522039
NM_001164508.2(NEB):c.24872C>T (p.Thr8291Met)
NM_001164508.2(NEB):c.24954GAA[1] (p.Lys8319del) rs755822172
NM_001164508.2(NEB):c.24980T>C (p.Ile8327Thr) rs775698655
NM_001164508.2(NEB):c.25027C>T (p.Arg8343Trp)
NM_001164508.2(NEB):c.25064G>T (p.Arg8355Leu) rs778972474
NM_001164508.2(NEB):c.25141A>T (p.Met8381Leu)
NM_001164508.2(NEB):c.25142T>C (p.Met8381Thr)
NM_001164508.2(NEB):c.25155A>G (p.Gln8385=) rs1432279381
NM_001164508.2(NEB):c.25166G>A (p.Arg8389Gln)
NM_001164508.2(NEB):c.25175A>G (p.Glu8392Gly)
NM_001164508.2(NEB):c.25216GAG[1] (p.Glu8407del)
NM_001164508.2(NEB):c.25261A>C (p.Thr8421Pro)
NM_001164508.2(NEB):c.25272C>G (p.Asp8424Glu)
NM_001164508.2(NEB):c.25327C>G (p.Pro8443Ala)
NM_001164508.2(NEB):c.25390C>G (p.Pro8464Ala)
NM_001164508.2(NEB):c.25429T>C (p.Tyr8477His)
NM_001164508.2(NEB):c.25442A>G (p.Asp8481Gly) rs2152619643
NM_001164508.2(NEB):c.25447G>T (p.Asp8483Tyr)
NM_001164508.2(NEB):c.25501G>A (p.Glu8501Lys)
NM_001164508.2(NEB):c.25509G>A (p.Trp8503Ter)

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