ClinVar Miner

List of variants in gene NFIX reported as pathogenic for Marshall-Smith syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NC_000019.10:g.(?_13075535)_(13078735_?)del
NC_000019.10:g.(?_13087969)_(13094669_?)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.1073_1076del (p.Arg358fs) rs2145459429
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.1204G>T (p.Glu402Ter)
NM_001365902.3(NFIX):c.120C>G (p.Tyr40Ter) rs760493118
NM_001365902.3(NFIX):c.1243del (p.Ala415fs) rs398122873
NM_001365902.3(NFIX):c.136A>T (p.Lys46Ter) rs1568268397
NM_001365902.3(NFIX):c.1456del (p.Arg486fs) rs2018058219
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.220del (p.Arg74fs) rs2013235786
NM_001365902.3(NFIX):c.226_242del (p.Leu76fs) rs2145191979
NM_001365902.3(NFIX):c.232A>T (p.Lys78Ter) rs1599738036
NM_001365902.3(NFIX):c.275_288del (p.Val92fs)
NM_001365902.3(NFIX):c.303dup (p.Cys102fs) rs886041304
NM_001365902.3(NFIX):c.327_340del (p.Gln110fs) rs1599738349
NM_001365902.3(NFIX):c.347G>A (p.Arg116Gln) rs2145192570
NM_001365902.3(NFIX):c.358del (p.Leu120fs) rs1555696611
NM_001365902.3(NFIX):c.373A>G (p.Lys125Glu) rs2145192745
NM_001365902.3(NFIX):c.416G>A (p.Gly139Glu) rs1555696625
NM_001365902.3(NFIX):c.43_49dup (p.Glu17fs) rs1599737421
NM_001365902.3(NFIX):c.463C>T (p.Gln155Ter)
NM_001365902.3(NFIX):c.515_518del (p.Ile172fs)
NM_001365902.3(NFIX):c.559G>T (p.Glu187Ter)
NM_001365902.3(NFIX):c.568C>T (p.Gln190Ter) rs387907253
NM_001365902.3(NFIX):c.586C>T (p.Gln196Ter) rs2145430763
NM_001365902.3(NFIX):c.60_75dup (p.Phe26fs) rs2013218777
NM_001365902.3(NFIX):c.687_688dup (p.Val230fs)
NM_001365902.3(NFIX):c.697+2T>G rs2145432885
NM_001365902.3(NFIX):c.77del (p.Phe26fs) rs2013220573
NM_001365902.3(NFIX):c.799_812del (p.Thr267fs) rs1599844887
NM_001365902.3(NFIX):c.818+561_956-804del
NM_001365902.3(NFIX):c.819-484_1079-700del
NM_001365902.3(NFIX):c.927dup (p.Ser310fs) rs1555705733
NM_001365902.3(NFIX):c.933_943del (p.Trp312fs) rs1599848690
NM_001365902.3(NFIX):c.955+1G>A rs398122876
NM_001365902.3(NFIX):c.955+1G>T rs398122876
NM_001365902.3(NFIX):c.959dup (p.Ala321fs) rs398122875
NM_001365902.3(NFIX):c.970_971del (p.Lys324fs) rs797045738
NM_001365902.3(NFIX):c.994dup (p.Cys332fs) rs398122874

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