ClinVar Miner

List of variants in gene combination NEB, RIF1 reported by GeneDx

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Gene type:
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Total variants: 175
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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.25150+12G>A rs4414676 0.07283
NM_001164508.2(NEB):c.25395T>G (p.Ser8465=) rs13031275 0.03886
NM_001164508.2(NEB):c.21963A>G (p.Lys7321=) rs61730765 0.03096
NM_001164508.2(NEB):c.21382T>C (p.Leu7128=) rs114218081 0.02752
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.23511G>A (p.Thr7837=) rs35808744 0.01201
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.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.24056C>T (p.Pro8019Leu) rs189655274 0.00280
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met) rs78592085 0.00208
NM_001164508.2(NEB):c.22050+13C>T rs113403461 0.00197
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.22800+9A>G rs144303545 0.00177
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.21840+13A>C rs75515097 0.00104
NM_001164508.2(NEB):c.25161G>A (p.Gln8387=) rs376897146 0.00076
NM_001164508.2(NEB):c.25289T>C (p.Val8430Ala) rs151338614 0.00075
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.23557-3C>G rs374499643 0.00044
NM_001164508.2(NEB):c.23905C>T (p.Arg7969Cys) rs201419564 0.00038
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.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.23648C>T (p.Ser7883Leu) rs202191938 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.23242-15G>A rs370467068 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.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.21861G>A (p.Arg7287=) rs372808358 0.00014
NM_001164508.2(NEB):c.22642A>G (p.Lys7548Glu) rs201976154 0.00014
NM_001164508.2(NEB):c.23742+11T>C rs374368246 0.00013
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.24207+17G>C rs373742185 0.00011
NM_001164508.2(NEB):c.25165C>T (p.Arg8389Trp) rs373551215 0.00011
NM_001164508.2(NEB):c.23055G>A (p.Gly7685=) rs563896790 0.00010
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.24623T>G (p.Phe8208Cys) rs376664167 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_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.22832G>A (p.Arg7611Gln) rs766072117 0.00006
NM_001164508.2(NEB):c.23051G>A (p.Arg7684His) rs372699411 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.23346+13G>A rs564325749 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.21892A>T (p.Thr7298Ser) rs531618541 0.00004
NM_001164508.2(NEB):c.23854T>C (p.Leu7952=) rs763873161 0.00004
NM_001164508.2(NEB):c.24574A>G (p.Ser8192Gly) rs141240053 0.00004
NM_001164508.2(NEB):c.25336C>T (p.Arg8446Ter) rs200731870 0.00004
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.24588C>G (p.Tyr8196Ter) rs754272530 0.00003
NM_001164508.2(NEB):c.24707C>T (p.Pro8236Leu) rs571935637 0.00003
NM_001164508.2(NEB):c.25555G>A (p.Ala8519Thr) rs775823432 0.00003
NM_001164508.2(NEB):c.21401C>T (p.Ser7134Leu) rs1199851750 0.00002
NM_001164508.2(NEB):c.21862G>C (p.Glu7288Gln) rs768693028 0.00002
NM_001164508.2(NEB):c.22276G>A (p.Ala7426Thr) rs765921628 0.00002
NM_001164508.2(NEB):c.23835+14T>G rs754114947 0.00002
NM_001164508.2(NEB):c.24021G>A (p.Ser8007=) rs557688789 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_001164507.2(NEB):c.21319T>C (p.Tyr7107His) rs1200802961 0.00001
NM_001164508.2(NEB):c.21466A>G (p.Ile7156Val) rs745586435 0.00001
NM_001164508.2(NEB):c.21513A>C (p.Gln7171His) rs542149432 0.00001
NM_001164508.2(NEB):c.21715G>A (p.Ala7239Thr) rs752957835 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.22374+20G>C rs764649803 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.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.24202A>G (p.Ser8068Gly) rs897454282 0.00001
NM_001164508.2(NEB):c.24382A>G (p.Asn8128Asp) rs960735572 0.00001
NM_001164508.2(NEB):c.24487-4A>G rs767852758 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.24738T>C (p.Ala8246=) rs1057524338 0.00001
NM_001164508.2(NEB):c.24836T>C (p.Met8279Thr) rs1340719168 0.00001
NM_001164508.2(NEB):c.25183C>T (p.Arg8395Ter) rs747179265 0.00001
NM_001164508.2(NEB):c.25298-12_25298-10del rs1296705502 0.00001
NM_001164507.2(NEB):c.21361G>A (p.Val7121Ile) rs2153521567
NM_001164508.2(NEB):c.21332C>G (p.Ala7111Gly) rs1279646895
NM_001164508.2(NEB):c.21358A>C (p.Asn7120His)
NM_001164508.2(NEB):c.21418-6del rs56026241
NM_001164508.2(NEB):c.21510A>G (p.Lys7170=) rs1216670824
NM_001164508.2(NEB):c.21546C>T (p.Asn7182=) rs149510427
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.21736-19TC[2] rs752810060
NM_001164508.2(NEB):c.21945+13T>C rs1553649614
NM_001164508.2(NEB):c.22050+20G>A rs758004610
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.22161+18G>C rs6721666
NM_001164508.2(NEB):c.22480-17T>G rs1553632257
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.23500G>T (p.Val7834Phe) rs1553601424
NM_001164508.2(NEB):c.23556G>A (p.Ser7852=)
NM_001164508.2(NEB):c.23704G>T (p.Val7902Leu) rs2153171171
NM_001164508.2(NEB):c.23742+5T>C rs1553594314
NM_001164508.2(NEB):c.23984T>C (p.Met7995Thr) rs1064796521
NM_001164508.2(NEB):c.24051del (p.Ile8018fs) rs758105619
NM_001164508.2(NEB):c.24086T>C (p.Val8029Ala) rs2153021060
NM_001164508.2(NEB):c.24189_24192dup (p.Glu8065fs) rs1553555882
NM_001164508.2(NEB):c.24208-7C>A rs113048349
NM_001164508.2(NEB):c.24213_24214insAA (p.Tyr8072fs) rs1064795894
NM_001164508.2(NEB):c.24289_24292dup (p.Ile8098fs) rs1553551595
NM_001164508.2(NEB):c.24300G>C (p.Ser8100=) rs541126160
NM_001164508.2(NEB):c.24301-19T>A rs940899832
NM_001164508.2(NEB):c.24338T>C (p.Leu8113Pro) rs1057524553
NM_001164508.2(NEB):c.24502_24504dup (p.Asn8168dup) rs1057518617
NM_001164508.2(NEB):c.24519C>T (p.Thr8173=) rs748978197
NM_001164508.2(NEB):c.24521dup (p.Thr8175fs) rs1330332139
NM_001164508.2(NEB):c.24579G>A (p.Ser8193=) rs202048855
NM_001164508.2(NEB):c.24666del (p.Phe8222fs) rs794727136
NM_001164508.2(NEB):c.24954GAA[1] (p.Lys8319del) rs755822172
NM_001164508.2(NEB):c.25057+1G>T rs1191429915
NM_001164508.2(NEB):c.25174G>A (p.Glu8392Lys) rs121913662
NM_001164508.2(NEB):c.25405-17dup rs148839798
NM_001164508.2(NEB):c.25442A>G (p.Asp8481Gly) rs2152619643
NM_001271208.1(NEB):c.23940+17_23940+21del rs768100915

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