ClinVar Miner

List of variants studied for Marshall-Smith syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 211
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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_000019.9:g.(?_13106632)_(13428155_?)del
NC_000019.9:g.(?_13135448)_(13419362_?)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.1131_1137dup (p.Ser380fs) rs1599862139
NM_001365902.3(NFIX):c.1139C>T (p.Ser380Leu) rs2017481607
NM_001365902.3(NFIX):c.113G>T (p.Arg38Leu) rs2013223468
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.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.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.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.187G>A (p.Glu63Lys)
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.247_270del (p.Ile83_Asp90del) rs2145192041
NM_001365902.3(NFIX):c.255C>T (p.Pro85=)
NM_001365902.3(NFIX):c.26A>C (p.Gln9Pro) rs2011445354
NM_001365902.3(NFIX):c.275_288del (p.Val92fs)
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.327_340del (p.Gln110fs) rs1599738349
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.33G>A (p.Glu11=)
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.373A>G (p.Lys125Glu) rs2145192745
NM_001365902.3(NFIX):c.379T>C (p.Trp127Arg) rs2013253145
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.416G>A (p.Gly139Glu) rs1555696625
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.459G>T (p.Ser153=)
NM_001365902.3(NFIX):c.463C>T (p.Gln155Ter)
NM_001365902.3(NFIX):c.477C>G (p.Pro159=)
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.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.731C>G (p.Ser244Cys)
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.769A>G (p.Asn257Asp)
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+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.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.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.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.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]

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