ClinVar Miner

List of variants in gene NFIX studied for multiple congenital anomalies/dysmorphic syndrome

Included ClinVar conditions (856):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 251
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001365902.3(NFIX):c.1140G>A (p.Ser380=) rs201174259 0.00238
NM_001365902.3(NFIX):c.1078+20G>A rs202139307 0.00078
NM_001365902.3(NFIX):c.698-12C>T rs372409455 0.00061
NM_001365902.3(NFIX):c.183G>A (p.Leu61=) rs369196245 0.00044
NM_001365902.3(NFIX):c.1284G>A (p.Pro428=) rs761114067 0.00031
NM_001365902.3(NFIX):c.117G>A (p.Lys39=) rs148229471 0.00027
NM_001365902.3(NFIX):c.1026G>A (p.Pro342=) rs774838479 0.00013
NM_001365902.3(NFIX):c.1236G>A (p.Ser412=) rs367955217 0.00011
NM_001365902.3(NFIX):c.1408G>A (p.Ala470Thr) rs372257657 0.00011
NM_001365902.3(NFIX):c.1143C>T (p.Ser381=) rs777733912 0.00010
NM_001365902.3(NFIX):c.843C>T (p.Ile281=) rs201741871 0.00008
NM_001365902.3(NFIX):c.1078+19C>T rs377622313 0.00006
NM_001365902.3(NFIX):c.786G>A (p.Gly262=) rs199590032 0.00006
NM_001365902.3(NFIX):c.252G>T (p.Arg84=) rs769513682 0.00004
NM_001365902.3(NFIX):c.105G>A (p.Ala35=) rs761426805 0.00002
NM_001365902.3(NFIX):c.1248C>G (p.Thr416=) rs372077833 0.00002
NM_001365902.3(NFIX):c.186C>G (p.Gly62=) rs1057523001 0.00001
NM_001365902.3(NFIX):c.309C>T (p.Cys103=) rs376885081 0.00001
NM_001365902.3(NFIX):c.560-6C>T rs1008207585 0.00001
NM_001365902.3(NFIX):c.600G>A (p.Ala200=) rs367591626 0.00001
NM_001365902.3(NFIX):c.604A>G (p.Ile202Val) rs772764812 0.00001
NM_001365902.3(NFIX):c.818+5G>A rs2016924041 0.00001
NC_000019.10:g.(?_13075535)_(13078735_?)del
NC_000019.10:g.(?_13087969)_(13094669_?)del
NC_000019.10:g.13185527_13190803dup
NC_000019.9:g.(?_13135448)_(13136386_?)dup
NC_000019.9:g.(?_13136156)_(13151380_?)del
NC_000019.9:g.(?_13186329)_(13189569_?)del
NC_000019.9:g.(?_13186329)_(13189569_?)dup
NM_001365902.3(NFIX):c.1008_1012del (p.Ser337fs) rs398122871
NM_001365902.3(NFIX):c.1011_1012del (p.Gln338fs) rs398122869
NM_001365902.3(NFIX):c.1037dup (p.Thr347fs) rs398122870
NM_001365902.3(NFIX):c.1049dup (p.Leu351fs) rs398122872
NM_001365902.3(NFIX):c.1059del (p.Ala355fs)
NM_001365902.3(NFIX):c.1066G>A (p.Gly356Arg)
NM_001365902.3(NFIX):c.1073_1076del (p.Arg358fs) rs2145459429
NM_001365902.3(NFIX):c.1078+13G>A
NM_001365902.3(NFIX):c.1078+14G>A
NM_001365902.3(NFIX):c.1078+9T>A
NM_001365902.3(NFIX):c.1079-10G>C rs772344456
NM_001365902.3(NFIX):c.1079-10G>T rs772344456
NM_001365902.3(NFIX):c.1079-1G>A
NM_001365902.3(NFIX):c.1080_1096del (p.Ser361fs) rs797045737
NM_001365902.3(NFIX):c.1087dup (p.Arg363fs) rs886041647
NM_001365902.3(NFIX):c.1090dup (p.Ala364fs)
NM_001365902.3(NFIX):c.1121C>T (p.Thr374Met)
NM_001365902.3(NFIX):c.1131_1137dup (p.Ser380fs) rs1599862139
NM_001365902.3(NFIX):c.1139C>T (p.Ser380Leu) rs2017481607
NM_001365902.3(NFIX):c.113G>A (p.Arg38His) rs2013223468
NM_001365902.3(NFIX):c.113G>T (p.Arg38Leu) rs2013223468
NM_001365902.3(NFIX):c.1154C>T (p.Thr385Met) rs1212531253
NM_001365902.3(NFIX):c.1155_1156delinsAA (p.His386Asn)
NM_001365902.3(NFIX):c.1160C>T (p.Pro387Leu)
NM_001365902.3(NFIX):c.1161G>A (p.Pro387=) rs745896204
NM_001365902.3(NFIX):c.1174CAC[5] (p.His395_Gly396insHis)
NM_001365902.3(NFIX):c.1179C>T (p.His393=)
NM_001365902.3(NFIX):c.1183del (p.His395fs) rs2145476207
NM_001365902.3(NFIX):c.1185C>T (p.His395=)
NM_001365902.3(NFIX):c.1199T>C (p.Leu400Pro)
NM_001365902.3(NFIX):c.1204G>T (p.Glu402Ter)
NM_001365902.3(NFIX):c.120C>G (p.Tyr40Ter) rs760493118
NM_001365902.3(NFIX):c.1235C>T (p.Ser412Leu) rs2017489032
NM_001365902.3(NFIX):c.1243del (p.Ala415fs) rs398122873
NM_001365902.3(NFIX):c.1247C>G (p.Thr416Ser) rs1459325680
NM_001365902.3(NFIX):c.1249G>A (p.Gly417Arg)
NM_001365902.3(NFIX):c.1249G>T (p.Gly417Ter) rs1326313565
NM_001365902.3(NFIX):c.1263T>C (p.Gly421=)
NM_001365902.3(NFIX):c.1266C>T (p.Ser422=)
NM_001365902.3(NFIX):c.1267G>A (p.Gly423Ser)
NM_001365902.3(NFIX):c.129G>A (p.Lys43=)
NM_001365902.3(NFIX):c.1305G>A (p.Pro435=)
NM_001365902.3(NFIX):c.1311_1313dup (p.Pro438_Val439insPro)
NM_001365902.3(NFIX):c.136A>T (p.Lys46Ter) rs1568268397
NM_001365902.3(NFIX):c.138G>A (p.Lys46=) rs1599737654
NM_001365902.3(NFIX):c.1402+20G>A
NM_001365902.3(NFIX):c.1403-14C>T
NM_001365902.3(NFIX):c.1403-20C>T
NM_001365902.3(NFIX):c.141G>A (p.Arg47=)
NM_001365902.3(NFIX):c.1423T>C (p.Ser475Pro) rs2018055834
NM_001365902.3(NFIX):c.143T>A (p.Met48Lys) rs1555696484
NM_001365902.3(NFIX):c.143T>C (p.Met48Thr) rs1555696484
NM_001365902.3(NFIX):c.1449del (p.Ile483fs) rs2018057322
NM_001365902.3(NFIX):c.1456del (p.Arg486fs) rs2018058219
NM_001365902.3(NFIX):c.1459del (p.Asp487fs)
NM_001365902.3(NFIX):c.146_153dup (p.Glu52fs)
NM_001365902.3(NFIX):c.1494+16C>G
NM_001365902.3(NFIX):c.1494+18C>T
NM_001365902.3(NFIX):c.1495-10C>T
NM_001365902.3(NFIX):c.1495-15T>C
NM_001365902.3(NFIX):c.1495-18T>C
NM_001365902.3(NFIX):c.149_155dup (p.Glu53fs) rs2145191473
NM_001365902.3(NFIX):c.154G>T (p.Glu52Ter) rs1555696499
NM_001365902.3(NFIX):c.163del (p.Ala55fs) rs2145191618
NM_001365902.3(NFIX):c.179T>C (p.Leu60Pro) rs387907254
NM_001365902.3(NFIX):c.187G>A (p.Glu63Lys)
NM_001365902.3(NFIX):c.187G>T (p.Glu63Ter) rs2013234045
NM_001365902.3(NFIX):c.195dup (p.Glu66fs)
NM_001365902.3(NFIX):c.220del (p.Arg74fs) rs2013235786
NM_001365902.3(NFIX):c.226_242del (p.Leu76fs) rs2145191979
NM_001365902.3(NFIX):c.230C>G (p.Ala77Gly)
NM_001365902.3(NFIX):c.231C>T (p.Ala77=)
NM_001365902.3(NFIX):c.232A>T (p.Lys78Ter) rs1599738036
NM_001365902.3(NFIX):c.235C>T (p.Leu79=)
NM_001365902.3(NFIX):c.236T>C (p.Leu79Pro)
NM_001365902.3(NFIX):c.247_270del (p.Ile83_Asp90del) rs2145192041
NM_001365902.3(NFIX):c.250dup (p.Arg84fs)
NM_001365902.3(NFIX):c.255C>T (p.Pro85=)
NM_001365902.3(NFIX):c.265_272dup (p.Phe91fs)
NM_001365902.3(NFIX):c.26A>C (p.Gln9Pro) rs2011445354
NM_001365902.3(NFIX):c.274del (p.Val92fs)
NM_001365902.3(NFIX):c.275_288del (p.Val92fs)
NM_001365902.3(NFIX):c.28-12_28-11insAGCC rs2145190803
NM_001365902.3(NFIX):c.28-15G>A
NM_001365902.3(NFIX):c.28-16G>A
NM_001365902.3(NFIX):c.28-322A>G
NM_001365902.3(NFIX):c.28-326G>A
NM_001365902.3(NFIX):c.28-327C>T rs1368994635
NM_001365902.3(NFIX):c.28-340GT[6]
NM_001365902.3(NFIX):c.28-355G>A
NM_001365902.3(NFIX):c.28-368G>T
NM_001365902.3(NFIX):c.28-370G>A
NM_001365902.3(NFIX):c.28-891dup rs113861190
NM_001365902.3(NFIX):c.286_300del (p.Thr96_Pro100del) rs2145192209
NM_001365902.3(NFIX):c.288G>A (p.Thr96=)
NM_001365902.3(NFIX):c.303dup (p.Cys102fs) rs886041304
NM_001365902.3(NFIX):c.309C>G (p.Cys103Trp) rs376885081
NM_001365902.3(NFIX):c.316_324del (p.Ser106_Pro108del)
NM_001365902.3(NFIX):c.317C>T (p.Ser106Phe)
NM_001365902.3(NFIX):c.31_47dup (p.Ile16fs)
NM_001365902.3(NFIX):c.325G>T (p.Asp109Tyr) rs2145192459
NM_001365902.3(NFIX):c.327_340del (p.Gln110fs) rs1599738349
NM_001365902.3(NFIX):c.329del (p.Gln110fs)
NM_001365902.3(NFIX):c.335G>T (p.Gly112Val) rs2145192509
NM_001365902.3(NFIX):c.336C>T (p.Gly112=)
NM_001365902.3(NFIX):c.337A>G (p.Lys113Glu) rs1555696597
NM_001365902.3(NFIX):c.338_342dup (p.Arg116fs) rs797045056
NM_001365902.3(NFIX):c.339_340dup (p.Ile114fs)
NM_001365902.3(NFIX):c.33G>A (p.Glu11=)
NM_001365902.3(NFIX):c.346C>T (p.Arg116Trp) rs1555696603
NM_001365902.3(NFIX):c.347G>A (p.Arg116Gln) rs2145192570
NM_001365902.3(NFIX):c.358del (p.Leu120fs) rs1555696611
NM_001365902.3(NFIX):c.359T>G (p.Leu120Arg)
NM_001365902.3(NFIX):c.360G>A (p.Leu120=)
NM_001365902.3(NFIX):c.361C>T (p.Arg121Cys) rs797044911
NM_001365902.3(NFIX):c.362G>C (p.Arg121Pro) rs387907255
NM_001365902.3(NFIX):c.373A>G (p.Lys125Glu) rs2145192745
NM_001365902.3(NFIX):c.379T>C (p.Trp127Arg) rs2013253145
NM_001365902.3(NFIX):c.383G>A (p.Arg128Gln)
NM_001365902.3(NFIX):c.384G>A (p.Arg128=)
NM_001365902.3(NFIX):c.393G>A (p.Leu131=)
NM_001365902.3(NFIX):c.393G>C (p.Leu131=)
NM_001365902.3(NFIX):c.398T>C (p.Met133Thr)
NM_001365902.3(NFIX):c.401T>C (p.Val134Ala)
NM_001365902.3(NFIX):c.410T>G (p.Phe137Cys)
NM_001365902.3(NFIX):c.413del (p.Lys138fs)
NM_001365902.3(NFIX):c.416G>A (p.Gly139Glu) rs1555696625
NM_001365902.3(NFIX):c.41_42dup (p.Phe15fs)
NM_001365902.3(NFIX):c.422C>G (p.Pro141Arg)
NM_001365902.3(NFIX):c.426G>A (p.Leu142=)
NM_001365902.3(NFIX):c.42G>A (p.Pro14=)
NM_001365902.3(NFIX):c.43_49dup (p.Glu17fs) rs1599737421
NM_001365902.3(NFIX):c.446G>C (p.Arg149Pro) rs2013261187
NM_001365902.3(NFIX):c.459G>T (p.Ser153=)
NM_001365902.3(NFIX):c.463C>T (p.Gln155Ter)
NM_001365902.3(NFIX):c.467G>C (p.Cys156Ser) rs1555696641
NM_001365902.3(NFIX):c.477C>G (p.Pro159=)
NM_001365902.3(NFIX):c.484T>G (p.Cys162Gly)
NM_001365902.3(NFIX):c.486C>A (p.Cys162Ter)
NM_001365902.3(NFIX):c.48C>T (p.Ile16=) rs559433211
NM_001365902.3(NFIX):c.515_518del (p.Ile172fs)
NM_001365902.3(NFIX):c.523C>T (p.Leu175=)
NM_001365902.3(NFIX):c.555T>G (p.Thr185=)
NM_001365902.3(NFIX):c.559+18A>G
NM_001365902.3(NFIX):c.559+18A>T
NM_001365902.3(NFIX):c.559+23del
NM_001365902.3(NFIX):c.559+8G>A
NM_001365902.3(NFIX):c.559G>T (p.Glu187Ter)
NM_001365902.3(NFIX):c.55C>T (p.Leu19=)
NM_001365902.3(NFIX):c.564C>T (p.Ser188=)
NM_001365902.3(NFIX):c.567A>G (p.Gly189=)
NM_001365902.3(NFIX):c.568C>T (p.Gln190Ter) rs387907253
NM_001365902.3(NFIX):c.582A>C (p.Ser194=)
NM_001365902.3(NFIX):c.586C>T (p.Gln196Ter) rs2145430763
NM_001365902.3(NFIX):c.599C>T (p.Ala200Val)
NM_001365902.3(NFIX):c.60_75dup (p.Phe26fs) rs2013218777
NM_001365902.3(NFIX):c.612A>G (p.Pro204=)
NM_001365902.3(NFIX):c.621C>T (p.Asn207=)
NM_001365902.3(NFIX):c.622+10C>T
NM_001365902.3(NFIX):c.622+4A>G
NM_001365902.3(NFIX):c.622+5G>A
NM_001365902.3(NFIX):c.622+8C>G
NM_001365902.3(NFIX):c.623G>A (p.Gly208Glu)
NM_001365902.3(NFIX):c.628T>C (p.Leu210=) rs1568316185
NM_001365902.3(NFIX):c.629T>A (p.Leu210Ter)
NM_001365902.3(NFIX):c.637C>T (p.Gln213Ter) rs886041422
NM_001365902.3(NFIX):c.66C>T (p.His22=)
NM_001365902.3(NFIX):c.674C>A (p.Thr225Lys)
NM_001365902.3(NFIX):c.675G>A (p.Thr225=)
NM_001365902.3(NFIX):c.67G>C (p.Val23Leu)
NM_001365902.3(NFIX):c.687_688dup (p.Val230fs)
NM_001365902.3(NFIX):c.690A>G (p.Val230=) rs1599843738
NM_001365902.3(NFIX):c.697+17T>C
NM_001365902.3(NFIX):c.697+2T>G rs2145432885
NM_001365902.3(NFIX):c.697+3_697+6del
NM_001365902.3(NFIX):c.698-2A>G
NM_001365902.3(NFIX):c.716C>G (p.Ser239Ter) rs587779381
NM_001365902.3(NFIX):c.731C>G (p.Ser244Cys)
NM_001365902.3(NFIX):c.73del (p.Ala25fs) rs1135401802
NM_001365902.3(NFIX):c.742C>T (p.Leu248=)
NM_001365902.3(NFIX):c.764A>G (p.Asn255Ser)
NM_001365902.3(NFIX):c.765C>T (p.Asn255=)
NM_001365902.3(NFIX):c.765_766del (p.Ile256fs) rs2145434937
NM_001365902.3(NFIX):c.769A>G (p.Asn257Asp)
NM_001365902.3(NFIX):c.772del (p.Gln258fs) rs2016920143
NM_001365902.3(NFIX):c.77del (p.Phe26fs) rs2013220573
NM_001365902.3(NFIX):c.787C>T (p.Arg263Trp) rs1568316909
NM_001365902.3(NFIX):c.791G>T (p.Arg264Leu)
NM_001365902.3(NFIX):c.799_812del (p.Thr267fs) rs1599844887
NM_001365902.3(NFIX):c.818+16C>T
NM_001365902.3(NFIX):c.818+1G>A rs2016923973
NM_001365902.3(NFIX):c.818+561_956-804del
NM_001365902.3(NFIX):c.818+9_818+16del
NM_001365902.3(NFIX):c.819-3C>T
NM_001365902.3(NFIX):c.819-484_1079-700del
NM_001365902.3(NFIX):c.822del (p.Thr275fs)
NM_001365902.3(NFIX):c.834del (p.Lys279fs) rs1568318540
NM_001365902.3(NFIX):c.846T>C (p.Asp282=)
NM_001365902.3(NFIX):c.876C>T (p.Asp292=)
NM_001365902.3(NFIX):c.889G>A (p.Gly297Arg)
NM_001365902.3(NFIX):c.88T>A (p.Trp30Arg)
NM_001365902.3(NFIX):c.906A>C (p.Pro302=)
NM_001365902.3(NFIX):c.908C>T (p.Ala303Val)
NM_001365902.3(NFIX):c.912_921dup (p.Gln308fs) rs2145442806
NM_001365902.3(NFIX):c.927dup (p.Ser310fs) rs1555705733
NM_001365902.3(NFIX):c.933G>A (p.Gly311=)
NM_001365902.3(NFIX):c.933_943del (p.Trp312fs) rs1599848690
NM_001365902.3(NFIX):c.935G>A (p.Trp312Ter) rs2145443002
NM_001365902.3(NFIX):c.942C>T (p.Asn314=)
NM_001365902.3(NFIX):c.955+15G>C
NM_001365902.3(NFIX):c.955+1G>A rs398122876
NM_001365902.3(NFIX):c.955+1G>T rs398122876
NM_001365902.3(NFIX):c.955+2T>C rs1568318932
NM_001365902.3(NFIX):c.956-14C>T
NM_001365902.3(NFIX):c.956-4C>G
NM_001365902.3(NFIX):c.956-4C>T
NM_001365902.3(NFIX):c.959dup (p.Ala321fs) rs398122875
NM_001365902.3(NFIX):c.95del (p.Asn32fs)
NM_001365902.3(NFIX):c.970_971del (p.Lys324fs) rs797045738
NM_001365902.3(NFIX):c.988G>A (p.Asp330Asn) rs1215112413
NM_001365902.3(NFIX):c.994dup (p.Cys332fs) rs398122874
NM_002501.3(NFIX):c.[346C>T;348G>A]

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.