ClinVar Miner

List of variants in gene combination NEB, RIF1 reported as likely pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 265
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_001164508.2(NEB):c.22590+2T>C rs200449517 0.00009
NM_001164508.2(NEB):c.24114+1G>A rs755239192 0.00009
NM_001164508.2(NEB):c.23742+2T>C rs545937015 0.00006
NM_001164508.2(NEB):c.24113C>A (p.Ser8038Ter) rs1458048713 0.00006
NM_001164508.2(NEB):c.23510C>T (p.Thr7837Met) rs370108917 0.00005
NM_001164508.2(NEB):c.25336C>T (p.Arg8446Ter) rs200731870 0.00004
NM_001164508.2(NEB):c.22800+1G>A rs1302373559 0.00003
NM_001164508.2(NEB):c.24588C>G (p.Tyr8196Ter) rs754272530 0.00003
NM_001164508.2(NEB):c.21313-2A>T rs1212081578 0.00001
NM_001164508.2(NEB):c.21736-13_21743del rs767772838 0.00001
NM_001164508.2(NEB):c.21793C>T (p.Arg7265Ter) rs750900690 0.00001
NM_001164508.2(NEB):c.22170C>G (p.Tyr7390Ter) rs748922882 0.00001
NM_001164508.2(NEB):c.22375-1G>A rs949331605 0.00001
NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter) rs760935667 0.00001
NM_001164508.2(NEB):c.22591-1G>C rs757157808 0.00001
NM_001164508.2(NEB):c.22696-1G>A rs745511810 0.00001
NM_001164508.2(NEB):c.22831C>T (p.Arg7611Ter) rs555582398 0.00001
NM_001164508.2(NEB):c.22905+2T>C rs1553623367 0.00001
NM_001164508.2(NEB):c.23016+1G>A rs111833078 0.00001
NM_001164508.2(NEB):c.23127+2T>C rs112610938 0.00001
NM_001164508.2(NEB):c.23451+1G>T rs1011425121 0.00001
NM_001164508.2(NEB):c.24022-1G>C rs1553561697 0.00001
NM_001164508.2(NEB):c.24172C>T (p.Gln8058Ter) rs1323364980 0.00001
NM_001164508.2(NEB):c.24208_24212dup (p.Tyr8072fs) rs1553552413 0.00001
NM_001164508.2(NEB):c.24212T>A (p.Leu8071Ter) rs756726488 0.00001
NM_001164508.2(NEB):c.24220G>T (p.Glu8074Ter) rs1218073575 0.00001
NM_001164508.2(NEB):c.24300+1G>A rs1366853918 0.00001
NM_001164508.2(NEB):c.24353_24356dup (p.Met8119fs) rs1257495033 0.00001
NM_001164508.2(NEB):c.24393+1G>A rs775631800 0.00001
NM_001164508.2(NEB):c.24946C>T (p.Arg8316Ter) rs758327681 0.00001
NM_001164508.2(NEB):c.25141_25142del (p.Met8381fs) rs1472403020 0.00001
NM_001164508.2(NEB):c.25183C>T (p.Arg8395Ter) rs747179265 0.00001
NM_001164508.2(NEB):c.25266C>A (p.Tyr8422Ter) rs1433028646 0.00001
NM_001164508.2(NEB):c.25330C>T (p.Gln8444Ter) rs778104284 0.00001
NM_001164508.2(NEB):c.25404+1_25404+2insATGGA rs1357452519 0.00001
NM_001164507.2(NEB):c.21321C>G (p.Tyr7107Ter) rs1553679273
NM_001164507.2(NEB):c.21358del (p.Leu7120fs) rs1553678967
NM_001164507.2(NEB):c.21417+1G>A
NM_001164508.2(NEB):c.21313-1G>C rs2153515796
NM_001164508.2(NEB):c.21417+1G>A rs2153515061
NM_001164508.2(NEB):c.21418-1G>A rs2153501801
NM_001164508.2(NEB):c.21523-1G>T
NM_001164508.2(NEB):c.21538del (p.Glu7180fs)
NM_001164508.2(NEB):c.21624_21625insTTATACTTGACACCATG (p.Ser7209delinsLeuTyrLeuThrProTer)
NM_001164508.2(NEB):c.21630+1G>A rs1446706909
NM_001164508.2(NEB):c.21630+2T>C
NM_001164508.2(NEB):c.21634A>T (p.Lys7212Ter)
NM_001164508.2(NEB):c.21714dup (p.Ala7239fs)
NM_001164508.2(NEB):c.21735+1G>C rs2153475495
NM_001164508.2(NEB):c.21736-1G>T
NM_001164508.2(NEB):c.21736-2A>G rs1389892619
NM_001164508.2(NEB):c.21744T>A (p.Tyr7248Ter)
NM_001164508.2(NEB):c.21817A>T (p.Lys7273Ter)
NM_001164508.2(NEB):c.21945+1G>A
NM_001164508.2(NEB):c.21945+1G>C rs2153458564
NM_001164508.2(NEB):c.21957_21963del (p.Lys7319fs)
NM_001164508.2(NEB):c.22009C>T (p.Gln7337Ter)
NM_001164508.2(NEB):c.22048G>T (p.Glu7350Ter)
NM_001164508.2(NEB):c.22051-2A>C
NM_001164508.2(NEB):c.22087C>T (p.Gln7363Ter) rs1553646540
NM_001164508.2(NEB):c.22091del (p.Gly7364fs) rs2153452355
NM_001164508.2(NEB):c.22099del (p.Thr7367fs)
NM_001164508.2(NEB):c.22138del (p.Glu7380fs) rs1235589246
NM_001164508.2(NEB):c.22142_22143del (p.Val7381fs)
NM_001164508.2(NEB):c.22153del (p.Val7385fs)
NM_001164508.2(NEB):c.22161+1G>A rs112933443
NM_001164508.2(NEB):c.22162-5_22162-2del rs1553644243
NM_001164508.2(NEB):c.22215_22220delinsGC (p.Ile7405fs)
NM_001164508.2(NEB):c.22240_22241insTAGC (p.His7414fs)
NM_001164508.2(NEB):c.22272+1G>A
NM_001164508.2(NEB):c.22272+2_22272+3del rs2153447342
NM_001164508.2(NEB):c.22272+2dup rs773465809
NM_001164508.2(NEB):c.22273-1G>A rs1553642332
NM_001164508.2(NEB):c.22287_22292delinsCGAT (p.Lys7429fs)
NM_001164508.2(NEB):c.22294_22295insCAGATTTA (p.Lys7432fs)
NM_001164508.2(NEB):c.22315dup (p.Thr7439fs)
NM_001164508.2(NEB):c.22353_22354insCA (p.Ala7452fs)
NM_001164508.2(NEB):c.22375-1G>C
NM_001164508.2(NEB):c.22375-2A>G rs2153437998
NM_001164508.2(NEB):c.22389del (p.Lys7464fs)
NM_001164508.2(NEB):c.22479+1del rs1488066635
NM_001164508.2(NEB):c.22479G>C (p.Gln7493His) rs1474341248
NM_001164508.2(NEB):c.22480-1G>C
NM_001164508.2(NEB):c.22483A>T (p.Lys7495Ter)
NM_001164508.2(NEB):c.22500_22501del (p.Phe7500fs)
NM_001164508.2(NEB):c.22511del (p.Lys7504fs) rs2080623161
NM_001164508.2(NEB):c.22597_22601del (p.Tyr7533fs)
NM_001164508.2(NEB):c.22613del (p.Lys7538fs)
NM_001164508.2(NEB):c.22622delinsTT (p.His7541fs)
NM_001164508.2(NEB):c.22695+1G>A
NM_001164508.2(NEB):c.22696-2A>C
NM_001164508.2(NEB):c.22748C>G (p.Pro7583Arg) rs1575897069
NM_001164508.2(NEB):c.22792_22793del (p.Gln7598fs)
NM_001164508.2(NEB):c.22800+2T>G rs1553627466
NM_001164508.2(NEB):c.22804A>T (p.Lys7602Ter)
NM_001164508.2(NEB):c.22880_22881del (p.Lys7627fs)
NM_001164508.2(NEB):c.22883_22884del (p.Glu7628fs)
NM_001164508.2(NEB):c.22891C>T (p.Gln7631Ter)
NM_001164508.2(NEB):c.22906-1G>C
NM_001164508.2(NEB):c.22939A>T (p.Lys7647Ter)
NM_001164508.2(NEB):c.23017-3_23017del
NM_001164508.2(NEB):c.23069_23072del (p.Glu7690fs)
NM_001164508.2(NEB):c.23116del (p.Ile7706fs)
NM_001164508.2(NEB):c.23127+1G>A
NM_001164508.2(NEB):c.23127+2T>A
NM_001164508.2(NEB):c.23128-1G>T
NM_001164508.2(NEB):c.23133_23144delinsG (p.Tyr7712fs) rs2153276539
NM_001164508.2(NEB):c.23140C>T (p.Arg7714Ter) rs1575714905
NM_001164508.2(NEB):c.23149G>T (p.Glu7717Ter)
NM_001164508.2(NEB):c.23161_23164del (p.Lys7721fs)
NM_001164508.2(NEB):c.23162_23165delinsCAGATGTGTAT (p.Lys7721fs)
NM_001164508.2(NEB):c.23174_23187del (p.Leu7725fs)
NM_001164508.2(NEB):c.23186delinsGAATCA (p.Ala7729fs)
NM_001164508.2(NEB):c.23241+2T>A rs1553615846
NM_001164508.2(NEB):c.23242-2A>G
NM_001164508.2(NEB):c.23346+1G>A
NM_001164508.2(NEB):c.23346+2T>G
NM_001164508.2(NEB):c.23347-2A>G
NM_001164508.2(NEB):c.23351dup (p.Tyr7785fs) rs1559360386
NM_001164508.2(NEB):c.23355C>G (p.Tyr7785Ter)
NM_001164508.2(NEB):c.23378del (p.Met7793fs) rs1553603690
NM_001164508.2(NEB):c.23415dup (p.Gln7806fs) rs1553603438
NM_001164508.2(NEB):c.23421_23422del (p.Arg7807fs) rs1553603400
NM_001164508.2(NEB):c.23451+1G>A
NM_001164508.2(NEB):c.23451+1G>C rs1011425121
NM_001164508.2(NEB):c.23452-1G>A
NM_001164508.2(NEB):c.23452-1G>C
NM_001164508.2(NEB):c.23457dup (p.Tyr7820fs)
NM_001164508.2(NEB):c.23494dup (p.Thr7832fs)
NM_001164508.2(NEB):c.23496_23499del (p.Val7833fs) rs762780413
NM_001164508.2(NEB):c.23502_23503del (p.Gln7835fs)
NM_001164508.2(NEB):c.23551del (p.Ser7851fs)
NM_001164508.2(NEB):c.23556+1G>T rs2153195911
NM_001164508.2(NEB):c.23556+2T>A
NM_001164508.2(NEB):c.23626C>T (p.Gln7876Ter) rs537560378
NM_001164508.2(NEB):c.23628_23631del (p.Gln7876fs) rs1161478770
NM_001164508.2(NEB):c.23645_23646delinsCCGACCACTGTG (p.Ser7882fs)
NM_001164508.2(NEB):c.23650-1G>A rs2153172016
NM_001164508.2(NEB):c.23650-2A>T
NM_001164508.2(NEB):c.23742+1G>A
NM_001164508.2(NEB):c.23743-1G>C rs797045098
NM_001164508.2(NEB):c.23786dup (p.Thr7930fs) rs756612643
NM_001164508.2(NEB):c.23795del (p.Glu7932fs) rs1396689726
NM_001164508.2(NEB):c.23834C>A (p.Ser7945Ter) rs755970391
NM_001164508.2(NEB):c.23835+1G>A rs781120931
NM_001164508.2(NEB):c.23835+2T>C
NM_001164508.2(NEB):c.23836-1G>A
NM_001164508.2(NEB):c.23836-2A>G rs2153104173
NM_001164508.2(NEB):c.23848_23851dup (p.Asn7951fs) rs1559296376
NM_001164508.2(NEB):c.23929-1G>C rs2153074006
NM_001164508.2(NEB):c.23929-2A>C rs1553569122
NM_001164508.2(NEB):c.23939_23940del (p.Lys7980fs)
NM_001164508.2(NEB):c.23967_23970del (p.Pro7990fs) rs756384471
NM_001164508.2(NEB):c.23967dup (p.Pro7990fs) rs2064466448
NM_001164508.2(NEB):c.23998_24001del (p.Leu8000fs) rs748550315
NM_001164508.2(NEB):c.23998_24001dup (p.Asn8001fs) rs748550315
NM_001164508.2(NEB):c.23998_24002dup (p.Gln8002fs) rs2064439011
NM_001164508.2(NEB):c.24004C>T (p.Gln8002Ter) rs2153072192
NM_001164508.2(NEB):c.24014_24015dup (p.Ser8006fs) rs1553568357
NM_001164508.2(NEB):c.24022-1G>A rs1553561697
NM_001164508.2(NEB):c.24022-1_24029del rs1423137705
NM_001164508.2(NEB):c.24023_24026dup (p.Leu8009fs) rs1553561665
NM_001164508.2(NEB):c.24024_24028dup (p.Tyr8010fs) rs772009599
NM_001164508.2(NEB):c.24039del (p.Asn8013fs) rs1553561525
NM_001164508.2(NEB):c.24051del (p.Ile8018fs) rs758105619
NM_001164508.2(NEB):c.24089_24092dup (p.His8031fs) rs2153020985
NM_001164508.2(NEB):c.24096_24099dup (p.Glu8034fs) rs1553561211
NM_001164508.2(NEB):c.24114+1G>C
NM_001164508.2(NEB):c.24115-1G>A
NM_001164508.2(NEB):c.24115-2A>G rs2152992966
NM_001164508.2(NEB):c.24127_24130dup (p.Asn8044fs) rs1553556275
NM_001164508.2(NEB):c.24129_24130delinsTAGC (p.Glu8043fs)
NM_001164508.2(NEB):c.24131del (p.Asn8044fs)
NM_001164508.2(NEB):c.24166_24169dup (p.Met8057fs)
NM_001164508.2(NEB):c.24176_24179dup (p.Lys8061fs) rs2061721973
NM_001164508.2(NEB):c.24177_24178del (p.Arg8059fs) rs1266535163
NM_001164508.2(NEB):c.24207+2T>C rs1553555768
NM_001164508.2(NEB):c.24209_24212dup (p.Leu8071fs) rs781667543
NM_001164508.2(NEB):c.24211_24212dup (p.Leu8071fs) rs1553552384
NM_001164508.2(NEB):c.24248del (p.Pro8083fs)
NM_001164508.2(NEB):c.24271_24274dup (p.Lys8092fs) rs1559217202
NM_001164508.2(NEB):c.24275_24278dup (p.His8093fs) rs1553551748
NM_001164508.2(NEB):c.24277_24280dup (p.Asn8094fs) rs1553551650
NM_001164508.2(NEB):c.24282_24285del (p.Asn8094fs)
NM_001164508.2(NEB):c.24297_24300+1del
NM_001164508.2(NEB):c.24301-1G>T
NM_001164508.2(NEB):c.24301_24305dup (p.Tyr8103fs) rs1553548771
NM_001164508.2(NEB):c.24302_24305dup (p.Leu8102fs) rs1344099907
NM_001164508.2(NEB):c.24305T>A (p.Leu8102Ter) rs1553548752
NM_001164508.2(NEB):c.24309C>A (p.Tyr8103Ter) rs1332061304
NM_001164508.2(NEB):c.24339_24342del (p.Pro8114fs) rs934111355
NM_001164508.2(NEB):c.24358del (p.Glu8120fs)
NM_001164508.2(NEB):c.24361_24364dup (p.Val8122fs)
NM_001164508.2(NEB):c.24363_24364del (p.Arg8121fs) rs752582527
NM_001164508.2(NEB):c.24368_24371dup (p.His8124fs) rs1553548207
NM_001164508.2(NEB):c.24377_24383del (p.Gln8126fs) rs1553548018
NM_001164508.2(NEB):c.24394-1G>A rs1421095081
NM_001164508.2(NEB):c.24394-1G>C
NM_001164508.2(NEB):c.24454C>T (p.Arg8152Ter) rs763364977
NM_001164508.2(NEB):c.24477_24480dup (p.Ser8161delinsTyrTer) rs797044606
NM_001164508.2(NEB):c.24487-1G>A
NM_001164508.2(NEB):c.24487-2A>G
NM_001164508.2(NEB):c.24487-6_24491del
NM_001164508.2(NEB):c.24503dup (p.Asn8168fs) rs2152876577
NM_001164508.2(NEB):c.24527dup (p.Val8177fs) rs2152876033
NM_001164508.2(NEB):c.24554_24555dup (p.Arg8186fs) rs1553537512
NM_001164508.2(NEB):c.24579+1G>A
NM_001164508.2(NEB):c.24579+1G>C
NM_001164508.2(NEB):c.24579+1G>T rs2058584112
NM_001164508.2(NEB):c.24579+2T>C rs1039759571
NM_001164508.2(NEB):c.24579G>A (p.Ser8193=) rs202048855
NM_001164508.2(NEB):c.24580-1G>C rs1574772311
NM_001164508.2(NEB):c.24580-2A>G rs113290650
NM_001164508.2(NEB):c.24605_24606insCACTCAGC (p.Lys8202fs)
NM_001164508.2(NEB):c.24615dup (p.Thr8206fs)
NM_001164508.2(NEB):c.24637G>T (p.Glu8213Ter) rs1553536267
NM_001164508.2(NEB):c.24639_24640del (p.Arg8214fs) rs1357811155
NM_001164508.2(NEB):c.24662dup (p.Asn8221fs)
NM_001164508.2(NEB):c.24665_24666del (p.Asn8221_Phe8222insTer) rs794727136
NM_001164508.2(NEB):c.24666del (p.Phe8222fs) rs794727136
NM_001164508.2(NEB):c.24672+1G>C
NM_001164508.2(NEB):c.24673-1G>A rs1574741105
NM_001164508.2(NEB):c.24673-1G>C
NM_001164508.2(NEB):c.24673-2A>C rs112687345
NM_001164508.2(NEB):c.24703dup (p.Thr8235fs)
NM_001164508.2(NEB):c.24710_24731del (p.Thr8237fs) rs761067911
NM_001164508.2(NEB):c.24730G>T (p.Glu8244Ter)
NM_001164508.2(NEB):c.24735_24736del (p.Arg8245fs) rs776059611
NM_001164508.2(NEB):c.24765+1G>A rs2058028669
NM_001164508.2(NEB):c.24765+2T>A rs2152850167
NM_001164508.2(NEB):c.24766-9_24767del rs1553530144
NM_001164508.2(NEB):c.24772_24778delinsA (p.Tyr8258_Asp8260delinsAsn)
NM_001164508.2(NEB):c.24873+2T>C
NM_001164508.2(NEB):c.24911_24914dup (p.Phe8305fs) rs2152822941
NM_001164508.2(NEB):c.24913_24914delinsA (p.Phe8305fs)
NM_001164508.2(NEB):c.24957_24958del (p.Asn8320fs)
NM_001164508.2(NEB):c.24988C>T (p.Arg8330Ter) rs767709270
NM_001164508.2(NEB):c.24997C>T (p.Gln8333Ter)
NM_001164508.2(NEB):c.25012delinsTA (p.Glu8338Ter) rs1553526619
NM_001164508.2(NEB):c.25057+1G>A rs1191429915
NM_001164508.2(NEB):c.25057+1G>C rs1191429915
NM_001164508.2(NEB):c.25057+1G>T rs1191429915
NM_001164508.2(NEB):c.25058-2A>C rs866309952
NM_001164508.2(NEB):c.25061del (p.Leu8354fs)
NM_001164508.2(NEB):c.25151-1G>T rs1553520609
NM_001164508.2(NEB):c.25151-2A>G
NM_001164508.2(NEB):c.25158_25159del (p.Gln8387fs)
NM_001164508.2(NEB):c.25158_25170del (p.Gln8387fs)
NM_001164508.2(NEB):c.25214del (p.Gly8405fs) rs1553520266
NM_001164508.2(NEB):c.25215_25216del (p.Glu8406fs)
NM_001164508.2(NEB):c.25235_25297+90del
NM_001164508.2(NEB):c.25276_25277del (p.Gly8426fs)
NM_001164508.2(NEB):c.25291_25292del (p.Ser8431fs)
NM_001164508.2(NEB):c.25297+1G>A rs113525641
NM_001164508.2(NEB):c.25297+2del rs1553519860
NM_001164508.2(NEB):c.25298-2A>C
NM_001164508.2(NEB):c.25298-2A>G
NM_001164508.2(NEB):c.25340C>A (p.Ser8447Ter) rs1553519124
NM_001164508.2(NEB):c.25404+1G>A
NM_001164508.2(NEB):c.25404+1G>T
NM_001164508.2(NEB):c.25404+2T>A rs1553518813
NM_001164508.2(NEB):c.25405-1G>A
NM_001164508.2(NEB):c.25408_25409del (p.Ile8470fs)
NM_001164508.2(NEB):c.25426_25429dup (p.Tyr8477Ter) rs2152620357

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.