ClinVar Miner

List of variants in gene combination NEB, RIF1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 326
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.24766-18C>T rs2288195 0.64910
NM_001164508.2(NEB):c.24433G>C (p.Ala8145Pro) rs7575451 0.64120
NM_001164508.2(NEB):c.21585A>G (p.Thr7195=) rs4664475 0.55659
NM_001164508.2(NEB):c.25204A>G (p.Ile8402Val) rs1061305 0.40617
NM_001164508.2(NEB):c.23381C>T (p.Ser7794Leu) rs41270201 0.01730
NM_001164508.2(NEB):c.21856G>A (p.Asp7286Asn) rs35625617 0.01691
NM_001164508.2(NEB):c.23495C>T (p.Thr7832Ile) rs34368668 0.01129
NM_001164508.2(NEB):c.21519C>T (p.Ser7173=) rs16830170 0.00961
NM_001164508.2(NEB):c.*212T>C rs1061317 0.00811
NM_001164508.2(NEB):c.24208-7C>T rs113048349 0.00793
NM_001164508.2(NEB):c.24264G>A (p.Met8088Ile) rs144709880 0.00436
NM_001164508.2(NEB):c.22904G>A (p.Gly7635Glu) rs3732309 0.00351
NM_001164508.2(NEB):c.22122C>G (p.Asp7374Glu) rs192402741 0.00334
NM_001164508.2(NEB):c.*201A>T rs190132249 0.00311
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met) rs78592085 0.00208
NM_001164508.2(NEB):c.25542C>T (p.Thr8514=) rs3821324 0.00183
NM_001164508.2(NEB):c.21685G>C (p.Asp7229His) rs201979610 0.00182
NM_001164508.2(NEB):c.23477A>G (p.Asn7826Ser) rs143602832 0.00177
NM_001164508.2(NEB):c.23599A>C (p.Lys7867Gln) rs118191309 0.00171
NM_001164508.2(NEB):c.21720C>T (p.Tyr7240=) rs34718443 0.00165
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.21673A>T (p.Thr7225Ser) rs187977960 0.00107
NM_001164508.2(NEB):c.22005G>A (p.Thr7335=) rs201400523 0.00072
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.23241+16C>T rs75221580 0.00061
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
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.22647G>A (p.Glu7549=) rs201688876 0.00029
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.21371G>A (p.Arg7124His) rs201094791 0.00020
NM_001164508.2(NEB):c.21491G>A (p.Arg7164His) rs16830171 0.00018
NM_001164508.2(NEB):c.23377A>C (p.Met7793Leu) rs199957886 0.00018
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.21861G>A (p.Arg7287=) rs372808358 0.00014
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.25564G>A (p.Val8522Ile) rs117861109 0.00010
NM_001164508.2(NEB):c.21757G>A (p.Glu7253Lys) rs745791097 0.00009
NM_001164508.2(NEB):c.22590+2T>C rs200449517 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.24114+1G>A rs755239192 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.23127+4G>A rs764457781 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.23742+2T>C rs545937015 0.00006
NM_001164508.2(NEB):c.24113C>A (p.Ser8038Ter) rs1458048713 0.00006
NM_001164508.2(NEB):c.24171G>T (p.Met8057Ile) rs758996758 0.00006
NM_001164508.2(NEB):c.24909T>C (p.Gly8303=) rs754365974 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.22591-6A>G rs758209784 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.23854T>C (p.Leu7952=) rs763873161 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.25336C>T (p.Arg8446Ter) rs200731870 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.22800+1G>A rs1302373559 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.24058A>G (p.Ile8020Val) rs144634228 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.24588C>G (p.Tyr8196Ter) rs754272530 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.21862G>C (p.Glu7288Gln) rs768693028 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.24208-10T>C rs1061322 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.21715G>A (p.Ala7239Thr) rs752957835 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.21906C>T (p.Asn7302=) rs757845188 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.22104A>T (p.Thr7368=) rs756011050 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.22489C>T (p.Arg7497Ter) rs760935667 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.22831C>T (p.Arg7611Ter) rs555582398 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.24300+1G>A rs1366853918 0.00001
NM_001164508.2(NEB):c.24382A>G (p.Asn8128Asp) rs960735572 0.00001
NM_001164508.2(NEB):c.24395_24398dup (p.Leu8133fs) rs762133567 0.00001
NM_001164508.2(NEB):c.24509G>A (p.Gly8170Glu) rs398124169 0.00001
NM_001164508.2(NEB):c.24527_24528del (p.Pro8176fs) rs555445835 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.24946C>T (p.Arg8316Ter) rs758327681 0.00001
NM_001164508.2(NEB):c.25072C>T (p.Arg8358Cys) rs757107530 0.00001
NM_001164508.2(NEB):c.25141_25142del (p.Met8381fs) rs1472403020 0.00001
NM_001164508.2(NEB):c.25150+3G>A rs556224656 0.00001
NM_001164508.2(NEB):c.25183C>T (p.Arg8395Ter) rs747179265 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_001164507.2(NEB):c.21417+1G>A
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.21418-6del rs56026241
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.21630+7A>G rs1576455408
NM_001164508.2(NEB):c.21631-14_21631-13del rs778841804
NM_001164508.2(NEB):c.21656G>T (p.Arg7219Ile) rs913038475
NM_001164508.2(NEB):c.21712G>A (p.Asp7238Asn)
NM_001164508.2(NEB):c.21790G>C (p.Asp7264His) rs780337761
NM_001164508.2(NEB):c.21829C>T (p.Gln7277Ter) rs887471790
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.22091del (p.Gly7364fs) rs2153452355
NM_001164508.2(NEB):c.22132G>A (p.Val7378Ile) rs764524918
NM_001164508.2(NEB):c.22138del (p.Glu7380fs) rs1235589246
NM_001164508.2(NEB):c.22161+18G>C rs6721666
NM_001164508.2(NEB):c.22411C>T (p.His7471Tyr)
NM_001164508.2(NEB):c.22420A>T (p.Ser7474Cys)
NM_001164508.2(NEB):c.22479G>C (p.Gln7493His) rs1474341248
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.22801-6C>T rs1575819066
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.23496_23499del (p.Val7833fs) rs762780413
NM_001164508.2(NEB):c.23500G>T (p.Val7834Phe) rs1553601424
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.23795del (p.Glu7932fs) rs1396689726
NM_001164508.2(NEB):c.23798T>C (p.Ile7933Thr) rs140967744
NM_001164508.2(NEB):c.23834C>T (p.Ser7945Leu)
NM_001164508.2(NEB):c.23836-2A>G rs2153104173
NM_001164508.2(NEB):c.23910_23913dup (p.Glu7972fs) rs761694639
NM_001164508.2(NEB):c.23916G>T (p.Glu7972Asp)
NM_001164508.2(NEB):c.23948T>G (p.Leu7983Trp)
NM_001164508.2(NEB):c.23967_23970del (p.Pro7990fs) rs756384471
NM_001164508.2(NEB):c.23984T>C (p.Met7995Thr) rs1064796521
NM_001164508.2(NEB):c.23998_24002dup (p.Gln8002fs) rs2064439011
NM_001164508.2(NEB):c.24051del (p.Ile8018fs) rs758105619
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.24176_24179dup (p.Lys8061fs) rs2061721973
NM_001164508.2(NEB):c.24177_24178del (p.Arg8059fs) rs1266535163
NM_001164508.2(NEB):c.24182_24185dup (p.His8062fs) rs2152991690
NM_001164508.2(NEB):c.24189_24192dup (p.Glu8065fs) rs1553555882
NM_001164508.2(NEB):c.24208-7C>A rs113048349
NM_001164508.2(NEB):c.24208G>A (p.Val8070Met)
NM_001164508.2(NEB):c.24209_24212dup (p.Leu8071fs) rs781667543
NM_001164508.2(NEB):c.24213_24214insAA (p.Tyr8072fs) rs1064795894
NM_001164508.2(NEB):c.24269G>C (p.Arg8090Thr)
NM_001164508.2(NEB):c.24289_24292dup (p.Ile8098fs) rs1553551595
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.24302_24305dup (p.Leu8102fs) rs1344099907
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.24363_24364del (p.Arg8121fs) rs752582527
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.24486+9C>T
NM_001164508.2(NEB):c.24502_24504dup (p.Asn8168dup) rs1057518617
NM_001164508.2(NEB):c.24521dup (p.Thr8175fs) rs1330332139
NM_001164508.2(NEB):c.24527dup (p.Val8177fs) rs2152876033
NM_001164508.2(NEB):c.24575G>C (p.Ser8192Thr) rs2152874768
NM_001164508.2(NEB):c.24579G>A (p.Ser8193=) rs202048855
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.24665_24666del (p.Asn8221_Phe8222insTer) rs794727136
NM_001164508.2(NEB):c.24666del (p.Phe8222fs) rs794727136
NM_001164508.2(NEB):c.24735_24736del (p.Arg8245fs) rs776059611
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.24988C>T (p.Arg8330Ter) rs767709270
NM_001164508.2(NEB):c.25027C>T (p.Arg8343Trp)
NM_001164508.2(NEB):c.25057+1G>T rs1191429915
NM_001164508.2(NEB):c.25064G>T (p.Arg8355Leu) rs778972474
NM_001164508.2(NEB):c.25129C>T (p.Arg8377Ter) rs777232352
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.25174G>A (p.Glu8392Lys) rs121913662
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.25405-17dup rs148839798
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)

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.