ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 349
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.23557-3C>G rs374499643 0.00044
NM_001164508.2(NEB):c.25055C>T (p.Thr8352Ile) rs372762302 0.00012
NM_001164508.2(NEB):c.24873G>A (p.Thr8291=) rs779321695 0.00010
NM_001164508.2(NEB):c.23017-3T>C rs111314898 0.00009
NM_001164508.2(NEB):c.23127+4G>A rs764457781 0.00007
NM_001164508.2(NEB):c.21892A>T (p.Thr7298Ser) rs531618541 0.00004
NM_001164508.2(NEB):c.22264C>A (p.Gln7422Lys) rs369642754 0.00004
NM_001164508.2(NEB):c.23346+5G>A rs778663301 0.00004
NM_001164508.2(NEB):c.24485C>T (p.Ser8162Leu) rs541908352 0.00004
NM_001164508.2(NEB):c.24842G>A (p.Arg8281Gln) rs770024830 0.00004
NM_001164508.2(NEB):c.25064G>A (p.Arg8355His) rs778972474 0.00004
NM_001164508.2(NEB):c.25240G>A (p.Ala8414Thr) rs563173814 0.00004
NM_001164508.2(NEB):c.22441A>G (p.Ile7481Val) rs374581669 0.00003
NM_001164508.2(NEB):c.23630C>T (p.Thr7877Ile) rs772064998 0.00003
NM_001164508.2(NEB):c.24275A>G (p.Lys8092Arg) rs200761405 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.24812C>T (p.Ala8271Val) rs749977606 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_001164508.2(NEB):c.22159G>C (p.Asp7387His) rs770527289 0.00002
NM_001164508.2(NEB):c.22617A>T (p.Lys7539Asn) rs755199802 0.00002
NM_001164508.2(NEB):c.23637C>G (p.Asp7879Glu) rs374029795 0.00002
NM_001164508.2(NEB):c.23928+4T>C rs768465696 0.00002
NM_001164508.2(NEB):c.24358G>A (p.Glu8120Lys) rs969631939 0.00002
NM_001164508.2(NEB):c.24527C>T (p.Pro8176Leu) rs751680308 0.00002
NM_001164508.2(NEB):c.24742C>T (p.Arg8248Cys) rs748561855 0.00002
NM_001164508.2(NEB):c.25256T>C (p.Leu8419Pro) rs370819880 0.00002
NM_001164507.2(NEB):c.21359T>C (p.Leu7120Pro) rs762447469 0.00001
NM_001164507.2(NEB):c.21392A>T (p.Lys7131Met) rs530565802 0.00001
NM_001164508.2(NEB):c.21497C>T (p.Thr7166Ile) rs766520487 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.21628G>A (p.Asp7210Asn) rs2090426850 0.00001
NM_001164508.2(NEB):c.21630+6T>G rs1401750275 0.00001
NM_001164508.2(NEB):c.21734A>G (p.Asn7245Ser) rs751872533 0.00001
NM_001164508.2(NEB):c.21829C>A (p.Gln7277Lys) rs887471790 0.00001
NM_001164508.2(NEB):c.21840T>C (p.Asp7280=) rs770721746 0.00001
NM_001164508.2(NEB):c.21974A>G (p.Glu7325Gly) rs1159938154 0.00001
NM_001164508.2(NEB):c.22067A>G (p.His7356Arg) rs1447292730 0.00001
NM_001164508.2(NEB):c.22091G>A (p.Gly7364Asp) rs376684415 0.00001
NM_001164508.2(NEB):c.22117C>T (p.Arg7373Trp) rs779004876 0.00001
NM_001164508.2(NEB):c.22124C>G (p.Thr7375Ser) rs1195608964 0.00001
NM_001164508.2(NEB):c.22161+5G>C rs376988538 0.00001
NM_001164508.2(NEB):c.22374+6G>A rs749050869 0.00001
NM_001164508.2(NEB):c.22412A>G (p.His7471Arg) rs1553641474 0.00001
NM_001164508.2(NEB):c.22439A>C (p.Asp7480Ala) rs886054928 0.00001
NM_001164508.2(NEB):c.22537A>G (p.Lys7513Glu) rs570049431 0.00001
NM_001164508.2(NEB):c.22672A>T (p.Asn7558Tyr) rs771643485 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.23594T>C (p.Ile7865Thr) rs2068741180 0.00001
NM_001164508.2(NEB):c.23596G>A (p.Gly7866Arg) rs1480807112 0.00001
NM_001164508.2(NEB):c.23649G>A (p.Ser7883=) rs778102984 0.00001
NM_001164508.2(NEB):c.23660A>C (p.Lys7887Thr) rs1166941249 0.00001
NM_001164508.2(NEB):c.23764G>A (p.Gly7922Arg) rs762094581 0.00001
NM_001164508.2(NEB):c.23765G>C (p.Gly7922Ala) rs1253296856 0.00001
NM_001164508.2(NEB):c.23803A>G (p.Arg7935Gly) rs1318564274 0.00001
NM_001164508.2(NEB):c.23816A>G (p.Asn7939Ser) rs1461067378 0.00001
NM_001164508.2(NEB):c.23987A>T (p.Glu7996Val) rs1312647029 0.00001
NM_001164508.2(NEB):c.24115G>T (p.Val8039Leu) rs1037262755 0.00001
NM_001164508.2(NEB):c.24198C>A (p.Asn8066Lys) rs2061715771 0.00001
NM_001164508.2(NEB):c.24207G>A (p.Ser8069=) rs763193315 0.00001
NM_001164508.2(NEB):c.24254C>G (p.Thr8085Ser) rs1297487988 0.00001
NM_001164508.2(NEB):c.24262A>G (p.Met8088Val) rs746180925 0.00001
NM_001164508.2(NEB):c.24293T>C (p.Ile8098Thr) rs372228043 0.00001
NM_001164508.2(NEB):c.24295A>T (p.Ser8099Cys) rs1489581077 0.00001
NM_001164508.2(NEB):c.24306A>C (p.Leu8102Phe) rs1217235799 0.00001
NM_001164508.2(NEB):c.24382A>G (p.Asn8128Asp) rs960735572 0.00001
NM_001164508.2(NEB):c.24393G>A (p.Ser8131=) rs527744844 0.00001
NM_001164508.2(NEB):c.24413T>C (p.Met8138Thr) rs1320244420 0.00001
NM_001164508.2(NEB):c.24486G>A (p.Ser8162=) rs1230102324 0.00001
NM_001164508.2(NEB):c.24729G>A (p.Met8243Ile) rs2058043130 0.00001
NM_001164508.2(NEB):c.25063C>T (p.Arg8355Cys) rs745632829 0.00001
NM_001164508.2(NEB):c.25150+3G>A rs556224656 0.00001
NM_001164508.2(NEB):c.25405-3T>G rs1222497271 0.00001
NM_001164508.2(NEB):c.25429_25430insG (p.Tyr8477Ter) rs1242654062 0.00001
NC_000002.12:g.(?_151496266)_(151497728_?)del
NC_000002.12:g.(?_151496921)_(151497053_?)del
NC_000002.12:g.(?_151496921)_(151497738_?)del
NM_001164507.2(NEB):c.21348T>G (p.Asp7116Glu) rs199934793
NM_001164507.2(NEB):c.21352T>C (p.Tyr7118His)
NM_001164507.2(NEB):c.21397G>T (p.Ala7133Ser) rs988993094
NM_001164508.2(NEB):c.21329G>A (p.Ser7110Asn)
NM_001164508.2(NEB):c.21344T>C (p.Leu7115Pro) rs1003798007
NM_001164508.2(NEB):c.21348A>T (p.Gln7116His)
NM_001164508.2(NEB):c.21358A>C (p.Asn7120His)
NM_001164508.2(NEB):c.21392T>C (p.Leu7131Pro) rs2092301005
NM_001164508.2(NEB):c.21403C>T (p.His7135Tyr)
NM_001164508.2(NEB):c.21411G>C (p.Trp7137Cys) rs1343837039
NM_001164508.2(NEB):c.21417+3A>T
NM_001164508.2(NEB):c.21420C>G (p.Ile7140Met)
NM_001164508.2(NEB):c.21424T>C (p.Tyr7142His)
NM_001164508.2(NEB):c.21435C>A (p.Asn7145Lys)
NM_001164508.2(NEB):c.21454A>G (p.Lys7152Glu) rs2153501624
NM_001164508.2(NEB):c.21457T>G (p.Phe7153Val) rs2153501601
NM_001164508.2(NEB):c.21469G>T (p.Val7157Leu) rs1576490497
NM_001164508.2(NEB):c.21484C>T (p.His7162Tyr)
NM_001164508.2(NEB):c.21490C>A (p.Arg7164Ser) rs771050596
NM_001164508.2(NEB):c.21491G>C (p.Arg7164Pro) rs16830171
NM_001164508.2(NEB):c.21519C>A (p.Ser7173Arg)
NM_001164508.2(NEB):c.21520G>A (p.Asp7174Asn) rs1227689355
NM_001164508.2(NEB):c.21529T>C (p.Tyr7177His)
NM_001164508.2(NEB):c.21541T>C (p.Tyr7181His)
NM_001164508.2(NEB):c.21546C>A (p.Asn7182Lys) rs149510427
NM_001164508.2(NEB):c.21560G>C (p.Arg7187Thr)
NM_001164508.2(NEB):c.21563G>A (p.Gly7188Asp)
NM_001164508.2(NEB):c.21572C>G (p.Thr7191Arg)
NM_001164508.2(NEB):c.21584_21585inv (p.Thr7195Met)
NM_001164508.2(NEB):c.21599A>G (p.His7200Arg)
NM_001164508.2(NEB):c.21606C>T (p.Arg7202=) rs2153489433
NM_001164508.2(NEB):c.21609G>C (p.Lys7203Asn) rs2090430591
NM_001164508.2(NEB):c.21631-17del
NM_001164508.2(NEB):c.21631-7C>G
NM_001164508.2(NEB):c.21641AAG[1] (p.Glu7215del)
NM_001164508.2(NEB):c.21646G>A (p.Val7216Ile) rs2153475893
NM_001164508.2(NEB):c.21668A>C (p.Asn7223Thr)
NM_001164508.2(NEB):c.21739G>C (p.Asp7247His)
NM_001164508.2(NEB):c.21743A>G (p.Tyr7248Cys) rs2153463102
NM_001164508.2(NEB):c.21773A>G (p.His7258Arg)
NM_001164508.2(NEB):c.21794G>A (p.Arg7265Gln)
NM_001164508.2(NEB):c.21826C>A (p.Leu7276Met)
NM_001164508.2(NEB):c.21862G>A (p.Glu7288Lys) rs768693028
NM_001164508.2(NEB):c.21868C>T (p.Leu7290Phe)
NM_001164508.2(NEB):c.21874G>C (p.Gly7292Arg)
NM_001164508.2(NEB):c.21879C>T (p.Cys7293=)
NM_001164508.2(NEB):c.21908C>G (p.Thr7303Arg) rs374819736
NM_001164508.2(NEB):c.21910G>A (p.Val7304Met)
NM_001164508.2(NEB):c.21919C>A (p.Leu7307Ile)
NM_001164508.2(NEB):c.21945T>C (p.Asp7315=)
NM_001164508.2(NEB):c.21980G>C (p.Gly7327Ala) rs751167749
NM_001164508.2(NEB):c.21982A>G (p.Thr7328Ala)
NM_001164508.2(NEB):c.21983C>A (p.Thr7328Asn)
NM_001164508.2(NEB):c.22007C>T (p.Pro7336Leu) rs1559547106
NM_001164508.2(NEB):c.22025A>G (p.Lys7342Arg)
NM_001164508.2(NEB):c.22042G>A (p.Val7348Met) rs200918570
NM_001164508.2(NEB):c.22090G>C (p.Gly7364Arg) rs2085588572
NM_001164508.2(NEB):c.22124C>T (p.Thr7375Ile) rs1195608964
NM_001164508.2(NEB):c.22161+17_22161+18delinsTC rs2153451799
NM_001164508.2(NEB):c.22173A>T (p.Lys7391Asn) rs2085025144
NM_001164508.2(NEB):c.22181T>C (p.Phe7394Ser) rs2153447855
NM_001164508.2(NEB):c.22213A>G (p.Ile7405Val) rs2153447751
NM_001164508.2(NEB):c.22228C>T (p.Pro7410Ser)
NM_001164508.2(NEB):c.22233G>C (p.Glu7411Asp) rs1576243073
NM_001164508.2(NEB):c.22252G>A (p.Val7418Met)
NM_001164508.2(NEB):c.22264C>G (p.Gln7422Glu) rs369642754
NM_001164508.2(NEB):c.22272+17A>G
NM_001164508.2(NEB):c.22273G>T (p.Val7425Phe) rs752028559
NM_001164508.2(NEB):c.22301A>C (p.Asn7434Thr)
NM_001164508.2(NEB):c.22313C>T (p.Thr7438Ile) rs2153439522
NM_001164508.2(NEB):c.22328G>A (p.Arg7443Gln)
NM_001164508.2(NEB):c.22328G>C (p.Arg7443Pro) rs2084210932
NM_001164508.2(NEB):c.22330C>G (p.Pro7444Ala)
NM_001164508.2(NEB):c.22342A>G (p.Lys7448Glu)
NM_001164508.2(NEB):c.22351C>G (p.Gln7451Glu) rs2084197089
NM_001164508.2(NEB):c.22367C>T (p.Ala7456Val) rs2153439115
NM_001164508.2(NEB):c.22374+9del
NM_001164508.2(NEB):c.22411C>T (p.His7471Tyr)
NM_001164508.2(NEB):c.22447A>T (p.Met7483Leu)
NM_001164508.2(NEB):c.22456_22457delinsGC (p.Lys7486Ala)
NM_001164508.2(NEB):c.22466A>G (p.Lys7489Arg) rs2084038575
NM_001164508.2(NEB):c.22479+4A>C
NM_001164508.2(NEB):c.22500C>A (p.Phe7500Leu)
NM_001164508.2(NEB):c.22513G>A (p.Gly7505Ser)
NM_001164508.2(NEB):c.22523C>T (p.Pro7508Leu) rs780741468
NM_001164508.2(NEB):c.22531A>G (p.Asn7511Asp) rs2153396290
NM_001164508.2(NEB):c.22532A>C (p.Asn7511Thr)
NM_001164508.2(NEB):c.22535C>G (p.Pro7512Arg) rs376609115
NM_001164508.2(NEB):c.22555A>G (p.Lys7519Glu) rs2080605863
NM_001164508.2(NEB):c.22567G>C (p.Asp7523His) rs2153395893
NM_001164508.2(NEB):c.22591-17del
NM_001164508.2(NEB):c.22591-3C>T rs778824203
NM_001164508.2(NEB):c.22619T>C (p.Leu7540Pro)
NM_001164508.2(NEB):c.22676C>T (p.Thr7559Ile) rs2080067943
NM_001164508.2(NEB):c.22690A>G (p.Ser7564Gly) rs749222946
NM_001164508.2(NEB):c.22705AAG[2] (p.Lys7571del) rs760161843
NM_001164508.2(NEB):c.22747C>T (p.Pro7583Ser) rs2153380639
NM_001164508.2(NEB):c.22748C>G (p.Pro7583Arg) rs1575897069
NM_001164508.2(NEB):c.22754A>C (p.Asn7585Thr)
NM_001164508.2(NEB):c.22771C>A (p.Leu7591Ile)
NM_001164508.2(NEB):c.22841C>T (p.Pro7614Leu) rs1182955893
NM_001164508.2(NEB):c.22912T>C (p.Tyr7638His)
NM_001164508.2(NEB):c.22950C>G (p.Asn7650Lys) rs2153320948
NM_001164508.2(NEB):c.22991A>C (p.Lys7664Thr)
NM_001164508.2(NEB):c.23005A>C (p.Ile7669Leu)
NM_001164508.2(NEB):c.23016+3A>G rs1194138148
NM_001164508.2(NEB):c.23016+4G>A
NM_001164508.2(NEB):c.23028G>C (p.Arg7676Ser)
NM_001164508.2(NEB):c.23083C>T (p.Pro7695Ser)
NM_001164508.2(NEB):c.23102A>G (p.Lys7701Arg)
NM_001164508.2(NEB):c.23168G>A (p.Arg7723Lys) rs947053462
NM_001164508.2(NEB):c.23182A>G (p.Met7728Val)
NM_001164508.2(NEB):c.23186C>T (p.Ala7729Val) rs1284612506
NM_001164508.2(NEB):c.23197_23205del (p.Pro7733_Phe7735del)
NM_001164508.2(NEB):c.23225C>G (p.Thr7742Ser)
NM_001164508.2(NEB):c.23230A>G (p.Ile7744Val) rs2075994673
NM_001164508.2(NEB):c.23233G>T (p.Ala7745Ser) rs1179461829
NM_001164508.2(NEB):c.23242A>G (p.Ile7748Val) rs767590150
NM_001164508.2(NEB):c.23288C>T (p.Ser7763Phe)
NM_001164508.2(NEB):c.23314C>T (p.His7772Tyr) rs2075487458
NM_001164508.2(NEB):c.23316T>A (p.His7772Gln)
NM_001164508.2(NEB):c.23320CAA[1] (p.Gln7775del) rs1553614214
NM_001164508.2(NEB):c.23338T>A (p.Ser7780Thr) rs1553614160
NM_001164508.2(NEB):c.23341A>G (p.Ser7781Gly) rs745794892
NM_001164508.2(NEB):c.23346+2dup rs2153272570
NM_001164508.2(NEB):c.23350A>G (p.Lys7784Glu) rs2070773602
NM_001164508.2(NEB):c.23405C>A (p.Thr7802Asn) rs780379101
NM_001164508.2(NEB):c.23405C>T (p.Thr7802Ile) rs780379101
NM_001164508.2(NEB):c.23480G>A (p.Ser7827Asn)
NM_001164508.2(NEB):c.23524C>A (p.Arg7842Ser) rs184516994
NM_001164508.2(NEB):c.23576T>A (p.Val7859Asp)
NM_001164508.2(NEB):c.23609A>T (p.Glu7870Val) rs1454960791
NM_001164508.2(NEB):c.23647T>C (p.Ser7883Pro)
NM_001164508.2(NEB):c.23648C>G (p.Ser7883Trp) rs202191938
NM_001164508.2(NEB):c.23705T>C (p.Val7902Ala)
NM_001164508.2(NEB):c.23713G>A (p.Val7905Met)
NM_001164508.2(NEB):c.23731C>A (p.His7911Asn)
NM_001164508.2(NEB):c.23742G>A (p.Ser7914=)
NM_001164508.2(NEB):c.23743G>A (p.Val7915Ile) rs767404419
NM_001164508.2(NEB):c.23752A>G (p.Lys7918Glu) rs758478063
NM_001164508.2(NEB):c.23754_23759dup (p.Lys7918_Glu7919dup) rs778176240
NM_001164508.2(NEB):c.23765G>A (p.Gly7922Glu)
NM_001164508.2(NEB):c.23773A>G (p.Ile7925Val) rs1322894219
NM_001164508.2(NEB):c.23802G>C (p.Glu7934Asp)
NM_001164508.2(NEB):c.23827T>C (p.Phe7943Leu)
NM_001164508.2(NEB):c.23836-14C>T
NM_001164508.2(NEB):c.23867T>C (p.Ile7956Thr) rs933996254
NM_001164508.2(NEB):c.23889G>C (p.Glu7963Asp) rs975397268
NM_001164508.2(NEB):c.23889G>T (p.Glu7963Asp)
NM_001164508.2(NEB):c.23916G>C (p.Glu7972Asp)
NM_001164508.2(NEB):c.23926T>A (p.Ser7976Thr) rs2065743787
NM_001164508.2(NEB):c.23929-12_23929-11del
NM_001164508.2(NEB):c.23949G>C (p.Leu7983Phe) rs2153073370
NM_001164508.2(NEB):c.23955G>C (p.Lys7985Asn) rs1189932875
NM_001164508.2(NEB):c.23957G>C (p.Gly7986Ala) rs2064473141
NM_001164508.2(NEB):c.23984T>A (p.Met7995Lys)
NM_001164508.2(NEB):c.23984T>C (p.Met7995Thr) rs1064796521
NM_001164508.2(NEB):c.23992G>A (p.Val7998Ile)
NM_001164508.2(NEB):c.24022-10T>G
NM_001164508.2(NEB):c.24022-9_24022-8del
NM_001164508.2(NEB):c.24028T>C (p.Tyr8010His) rs555681348
NM_001164508.2(NEB):c.24067A>G (p.Thr8023Ala) rs1323764871
NM_001164508.2(NEB):c.24071C>G (p.Pro8024Arg) rs2153021543
NM_001164508.2(NEB):c.24082A>G (p.Arg8028Gly) rs2062685891
NM_001164508.2(NEB):c.24095A>G (p.Asn8032Ser) rs946188918
NM_001164508.2(NEB):c.24107T>G (p.Phe8036Cys)
NM_001164508.2(NEB):c.24113C>T (p.Ser8038Leu) rs1458048713
NM_001164508.2(NEB):c.24114G>A (p.Ser8038=) rs781581005
NM_001164508.2(NEB):c.24114G>T (p.Ser8038=) rs781581005
NM_001164508.2(NEB):c.24158T>C (p.Ile8053Thr) rs2061739053
NM_001164508.2(NEB):c.24207+12_24207+16dup rs1559228786
NM_001164508.2(NEB):c.24208-7C>A rs113048349
NM_001164508.2(NEB):c.24208-7_24208-6insTAA
NM_001164508.2(NEB):c.24210_24212dup (p.Leu8071dup) rs781667543
NM_001164508.2(NEB):c.24262_24264dup (p.Met8088dup) rs769252768
NM_001164508.2(NEB):c.24293_24295dup (p.Ile8098dup) rs780724946
NM_001164508.2(NEB):c.24300+18G>C
NM_001164508.2(NEB):c.24300G>C (p.Ser8100=) rs541126160
NM_001164508.2(NEB):c.24303_24305dup (p.Leu8102dup) rs1344099907
NM_001164508.2(NEB):c.24350C>G (p.Pro8117Arg)
NM_001164508.2(NEB):c.24393+14A>G
NM_001164508.2(NEB):c.24394G>C (p.Val8132Leu)
NM_001164508.2(NEB):c.24433G>A (p.Ala8145Thr)
NM_001164508.2(NEB):c.24451G>A (p.Glu8151Lys) rs1385464726
NM_001164508.2(NEB):c.24454C>G (p.Arg8152Gly) rs763364977
NM_001164508.2(NEB):c.24508G>A (p.Gly8170Arg) rs1553537770
NM_001164508.2(NEB):c.24508G>C (p.Gly8170Arg) rs1553537770
NM_001164508.2(NEB):c.24518C>T (p.Thr8173Ile)
NM_001164508.2(NEB):c.24536C>T (p.Pro8179Leu)
NM_001164508.2(NEB):c.24575G>C (p.Ser8192Thr) rs2152874768
NM_001164508.2(NEB):c.24581T>A (p.Val8194Glu)
NM_001164508.2(NEB):c.24589A>G (p.Lys8197Glu)
NM_001164508.2(NEB):c.24608C>G (p.Ala8203Gly) rs2152863881
NM_001164508.2(NEB):c.24619C>A (p.Pro8207Thr)
NM_001164508.2(NEB):c.24625A>G (p.Thr8209Ala) rs1680474922
NM_001164508.2(NEB):c.24632A>C (p.Glu8211Ala) rs201243201
NM_001164508.2(NEB):c.24636G>A (p.Met8212Ile) rs770656983
NM_001164508.2(NEB):c.24657A>C (p.Gln8219His)
NM_001164508.2(NEB):c.24690C>G (p.Asn8230Lys) rs2058061871
NM_001164508.2(NEB):c.24700G>C (p.Ala8234Pro)
NM_001164508.2(NEB):c.24710C>T (p.Thr8237Ile) rs369083039
NM_001164508.2(NEB):c.24722C>T (p.Pro8241Leu) rs2152851388
NM_001164508.2(NEB):c.24728T>G (p.Met8243Arg) rs778196202
NM_001164508.2(NEB):c.24731A>G (p.Glu8244Gly) rs2152851090
NM_001164508.2(NEB):c.24733A>G (p.Arg8245Gly) rs2058041442
NM_001164508.2(NEB):c.24764C>T (p.Ser8255Leu)
NM_001164508.2(NEB):c.24769C>T (p.Leu8257Phe)
NM_001164508.2(NEB):c.24772T>A (p.Tyr8258Asn)
NM_001164508.2(NEB):c.24775_24780del (p.Asp8260_Ser8261del)
NM_001164508.2(NEB):c.24781A>G (p.Ser8261Gly)
NM_001164508.2(NEB):c.24788G>A (p.Arg8263Gln) rs745615279
NM_001164508.2(NEB):c.24799C>G (p.Gln8267Glu) rs2152828559
NM_001164508.2(NEB):c.24802G>A (p.Gly8268Ser)
NM_001164508.2(NEB):c.24817G>A (p.Val8273Ile)
NM_001164508.2(NEB):c.24829C>G (p.Pro8277Ala)
NM_001164508.2(NEB):c.24830C>A (p.Pro8277His) rs2152828148
NM_001164508.2(NEB):c.24832G>C (p.Glu8278Gln)
NM_001164508.2(NEB):c.24839G>A (p.Arg8280Lys) rs759522039
NM_001164508.2(NEB):c.24845T>C (p.Val8282Ala)
NM_001164508.2(NEB):c.24857A>G (p.Gln8286Arg)
NM_001164508.2(NEB):c.24873G>T (p.Thr8291=)
NM_001164508.2(NEB):c.24875T>C (p.Val8292Ala)
NM_001164508.2(NEB):c.24907G>C (p.Gly8303Arg) rs780925059
NM_001164508.2(NEB):c.24908G>A (p.Gly8303Asp)
NM_001164508.2(NEB):c.24925G>C (p.Val8309Leu) rs1401528056
NM_001164508.2(NEB):c.24946C>G (p.Arg8316Gly)
NM_001164508.2(NEB):c.24949G>A (p.Val8317Ile) rs1341580706
NM_001164508.2(NEB):c.24971T>C (p.Phe8324Ser)
NM_001164508.2(NEB):c.24980T>C (p.Ile8327Thr) rs775698655
NM_001164508.2(NEB):c.24998A>T (p.Gln8333Leu)
NM_001164508.2(NEB):c.25007T>C (p.Val8336Ala) rs1574651626
NM_001164508.2(NEB):c.25010T>G (p.Val8337Gly) rs2057127460
NM_001164508.2(NEB):c.25021C>A (p.Gln8341Lys)
NM_001164508.2(NEB):c.25037A>G (p.Gln8346Arg) rs2057118708
NM_001164508.2(NEB):c.25049C>T (p.Thr8350Ile) rs2057112732
NM_001164508.2(NEB):c.25066G>A (p.Val8356Ile)
NM_001164508.2(NEB):c.25088C>T (p.Ser8363Leu)
NM_001164508.2(NEB):c.25099T>C (p.Tyr8367His)
NM_001164508.2(NEB):c.25105C>G (p.Pro8369Ala) rs1038960610
NM_001164508.2(NEB):c.25130G>C (p.Arg8377Pro)
NM_001164508.2(NEB):c.25132A>G (p.Ser8378Gly)
NM_001164508.2(NEB):c.25153C>A (p.Gln8385Lys)
NM_001164508.2(NEB):c.25162C>A (p.Arg8388Ser)
NM_001164508.2(NEB):c.25166G>A (p.Arg8389Gln)
NM_001164508.2(NEB):c.25180T>C (p.Ser8394Pro)
NM_001164508.2(NEB):c.25184G>T (p.Arg8395Leu) rs779983347
NM_001164508.2(NEB):c.25192A>G (p.Ser8398Gly) rs1308512715
NM_001164508.2(NEB):c.25203_25204inv (p.Ile8402Val)
NM_001164508.2(NEB):c.25214G>T (p.Gly8405Val) rs768811942
NM_001164508.2(NEB):c.25214del (p.Gly8405fs) rs1553520266
NM_001164508.2(NEB):c.25216GAG[1] (p.Glu8407del)
NM_001164508.2(NEB):c.25255C>T (p.Leu8419Phe)
NM_001164508.2(NEB):c.25297+4C>T rs1410859190
NM_001164508.2(NEB):c.25304A>G (p.Lys8435Arg)
NM_001164508.2(NEB):c.25360C>T (p.Gln8454Ter)
NM_001164508.2(NEB):c.25361A>G (p.Gln8454Arg)
NM_001164508.2(NEB):c.25396A>G (p.Thr8466Ala) rs2152762849
NM_001164508.2(NEB):c.25409T>C (p.Ile8470Thr) rs1280701887
NM_001164508.2(NEB):c.25444G>A (p.Ala8482Thr)
NM_001164508.2(NEB):c.25447G>C (p.Asp8483His) rs993833092
NM_001164508.2(NEB):c.25447G>T (p.Asp8483Tyr)
NM_001164508.2(NEB):c.25469G>A (p.Gly8490Glu)
NM_001164508.2(NEB):c.25498G>A (p.Asp8500Asn) rs1574251962
NM_001164508.2(NEB):c.25509G>A (p.Trp8503Ter)
NM_001164508.2(NEB):c.25519A>G (p.Thr8507Ala)
NM_001164508.2(NEB):c.25535G>A (p.Gly8512Asp) rs2152614968
NM_001164508.2(NEB):c.25564G>T (p.Val8522Phe) rs117861109

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