ClinVar Miner

List of variants in gene FOXG1 reported as pathogenic for Rett syndrome, congenital variant

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 132
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005249.5(FOXG1):c.239dup (p.Ala81fs) rs796052474 0.00001
NC_000014.8:g.(?_29236486)_(29237955_?)del
NC_000014.9:g.(?_28767260)_(28768769_?)del
NM_005249.5(FOXG1):c.1007dup (p.Ser336fs)
NM_005249.5(FOXG1):c.1014dup (p.Met339fs) rs1881816066
NM_005249.5(FOXG1):c.1023C>G (p.Tyr341Ter) rs764343290
NM_005249.5(FOXG1):c.1037del (p.Thr346fs)
NM_005249.5(FOXG1):c.1074del (p.Ala359fs)
NM_005249.5(FOXG1):c.1082dup (p.Leu362fs) rs1555321405
NM_005249.5(FOXG1):c.1095_1114del (p.Arg366fs) rs2138661946
NM_005249.5(FOXG1):c.1135del (p.Leu379fs) rs1881819022
NM_005249.5(FOXG1):c.1141del (p.Ala381fs) rs2138662009
NM_005249.5(FOXG1):c.1170C>A (p.Cys390Ter) rs1392520466
NM_005249.5(FOXG1):c.1200C>G (p.Tyr400Ter) rs138747073
NM_005249.5(FOXG1):c.1244_1245del (p.Ser415fs)
NM_005249.5(FOXG1):c.1248C>G (p.Tyr416Ter) rs786204999
NM_005249.5(FOXG1):c.1255_1274dup (p.Met426fs)
NM_005249.5(FOXG1):c.1359_1360del (p.Cys453_Glu454delinsTer)
NM_005249.5(FOXG1):c.135_136dup (p.Gln46fs) rs587783629
NM_005249.5(FOXG1):c.136C>T (p.Gln46Ter) rs786205000
NM_005249.5(FOXG1):c.1410del (p.Leu471fs) rs2138662354
NM_005249.5(FOXG1):c.1412_1427del (p.Leu471fs)
NM_005249.5(FOXG1):c.1414_1417del (p.Ser472fs) rs1881828200
NM_005249.5(FOXG1):c.170_179del (p.His57fs) rs587783631
NM_005249.5(FOXG1):c.177_186dup (p.Pro63fs) rs1555321206
NM_005249.5(FOXG1):c.208C>T (p.Gln70Ter)
NM_005249.5(FOXG1):c.214C>T (p.Gln72Ter) rs1555321237
NM_005249.5(FOXG1):c.222_223dup (p.Pro75fs) rs2138660395
NM_005249.5(FOXG1):c.230del (p.Pro77fs)
NM_005249.5(FOXG1):c.239del (p.Pro80fs)
NM_005249.5(FOXG1):c.243_262del (p.Pro82fs) rs2138660457
NM_005249.5(FOXG1):c.256C>T (p.Gln86Ter) rs398124202
NM_005249.5(FOXG1):c.256del (p.Gln86fs) rs786205001
NM_005249.5(FOXG1):c.256dup (p.Gln86fs) rs786205001
NM_005249.5(FOXG1):c.263_278del (p.Arg88fs) rs587783635
NM_005249.5(FOXG1):c.298del (p.Gln100fs) rs587783636
NM_005249.5(FOXG1):c.301C>T (p.Gln101Ter) rs1881788747
NM_005249.5(FOXG1):c.314_335del (p.Pro105fs)
NM_005249.5(FOXG1):c.356del (p.Ala119fs) rs2138660687
NM_005249.5(FOXG1):c.385del (p.Glu129fs) rs2138660748
NM_005249.5(FOXG1):c.389del (p.Pro130fs)
NM_005249.5(FOXG1):c.406G>T (p.Glu136Ter) rs1057520663
NM_005249.5(FOXG1):c.406del (p.Glu136fs) rs1881793162
NM_005249.5(FOXG1):c.407_458del (p.Glu136fs) rs1566445169
NM_005249.5(FOXG1):c.413del (p.Ala138fs)
NM_005249.5(FOXG1):c.430G>T (p.Glu144Ter) rs797045583
NM_005249.5(FOXG1):c.439A>T (p.Lys147Ter)
NM_005249.5(FOXG1):c.453del (p.Glu154fs)
NM_005249.5(FOXG1):c.459_460del (p.Glu154fs)
NM_005249.5(FOXG1):c.460G>T (p.Glu154Ter) rs1057520780
NM_005249.5(FOXG1):c.460del (p.Glu154fs) rs398124204
NM_005249.5(FOXG1):c.460dup (p.Glu154fs) rs398124204
NM_005249.5(FOXG1):c.469A>T (p.Lys157Ter) rs2138660947
NM_005249.5(FOXG1):c.485dup (p.Gly163fs) rs2138660968
NM_005249.5(FOXG1):c.499G>T (p.Glu167Ter)
NM_005249.5(FOXG1):c.500_501insC (p.Glu167fs)
NM_005249.5(FOXG1):c.500del (p.Glu167fs) rs1555321294
NM_005249.5(FOXG1):c.505_506delinsC (p.Gly169fs) rs786205003
NM_005249.5(FOXG1):c.505_506delinsT (p.Gly169fs) rs786205003
NM_005249.5(FOXG1):c.506del (p.Gly169fs) rs1452295073
NM_005249.5(FOXG1):c.506dup (p.Lys170fs) rs1452295073
NM_005249.5(FOXG1):c.517G>T (p.Glu173Ter) rs2138661070
NM_005249.5(FOXG1):c.532A>T (p.Lys178Ter) rs2138661094
NM_005249.5(FOXG1):c.537C>G (p.Tyr179Ter) rs1555321301
NM_005249.5(FOXG1):c.543G>C (p.Lys181Asn) rs767961672
NM_005249.5(FOXG1):c.545C>A (p.Pro182Gln) rs796052461
NM_005249.5(FOXG1):c.552dup (p.Ser185fs) rs786205004
NM_005249.5(FOXG1):c.559A>G (p.Asn187Asp) rs2138661139
NM_005249.5(FOXG1):c.559_561del (p.Asn187del)
NM_005249.5(FOXG1):c.561C>A (p.Asn187Lys) rs796052462
NM_005249.5(FOXG1):c.561C>G (p.Asn187Lys) rs796052462
NM_005249.5(FOXG1):c.565C>T (p.Leu189Phe) rs1555321308
NM_005249.5(FOXG1):c.577G>A (p.Ala193Thr) rs786205005
NM_005249.5(FOXG1):c.584G>C (p.Arg195Pro) rs1001642335
NM_005249.5(FOXG1):c.586C>T (p.Gln196Ter) rs796052463
NM_005249.5(FOXG1):c.587A>C (p.Gln196Pro) rs2138661191
NM_005249.5(FOXG1):c.590G>T (p.Ser197Ile) rs1881802605
NM_005249.5(FOXG1):c.592_594del (p.Pro198del) rs2138661203
NM_005249.5(FOXG1):c.594del (p.Glu199fs)
NM_005249.5(FOXG1):c.602G>C (p.Arg201Pro) rs2138661213
NM_005249.5(FOXG1):c.604C>T (p.Leu202Phe)
NM_005249.5(FOXG1):c.611_618del (p.Leu204fs) rs2138661224
NM_005249.5(FOXG1):c.624C>A (p.Tyr208Ter) rs267606826
NM_005249.5(FOXG1):c.624C>G (p.Tyr208Ter) rs267606826
NM_005249.5(FOXG1):c.632T>C (p.Ile211Thr) rs1594383648
NM_005249.5(FOXG1):c.634del (p.Ile211_Met212insTer) rs2138661266
NM_005249.5(FOXG1):c.637A>T (p.Lys213Ter)
NM_005249.5(FOXG1):c.643T>C (p.Phe215Leu) rs267606828
NM_005249.5(FOXG1):c.645C>A (p.Phe215Leu) rs1057518165
NM_005249.5(FOXG1):c.645C>G (p.Phe215Leu) rs1057518165
NM_005249.5(FOXG1):c.651C>G (p.Tyr217Ter) rs796052464
NM_005249.5(FOXG1):c.654C>A (p.Tyr218Ter) rs2138661305
NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser) rs727503935
NM_005249.5(FOXG1):c.676C>G (p.Gln226Glu)
NM_005249.5(FOXG1):c.689G>A (p.Arg230His) rs786205007
NM_005249.5(FOXG1):c.690_697dup (p.Leu233fs) rs2138661370
NM_005249.5(FOXG1):c.692A>G (p.His231Arg) rs2138661375
NM_005249.5(FOXG1):c.700T>C (p.Ser234Pro) rs786205008
NM_005249.5(FOXG1):c.725_731dup (p.His245fs)
NM_005249.5(FOXG1):c.730C>T (p.Arg244Cys) rs786205009
NM_005249.5(FOXG1):c.732_741del (p.His245fs) rs1555321345
NM_005249.5(FOXG1):c.735del (p.Tyr246fs) rs2138661448
NM_005249.5(FOXG1):c.738C>G (p.Tyr246Ter) rs1240929961
NM_005249.5(FOXG1):c.757A>G (p.Asn253Asp) rs587783641
NM_005249.5(FOXG1):c.762C>A (p.Tyr254Ter) rs587783642
NM_005249.5(FOXG1):c.762C>G (p.Tyr254Ter) rs587783642
NM_005249.5(FOXG1):c.765G>A (p.Trp255Ter) rs121913678
NM_005249.5(FOXG1):c.765G>C (p.Trp255Cys)
NM_005249.5(FOXG1):c.765G>T (p.Trp255Cys) rs121913678
NM_005249.5(FOXG1):c.770T>C (p.Leu257Pro) rs1555321353
NM_005249.5(FOXG1):c.777del (p.Ser260fs) rs1594383798
NM_005249.5(FOXG1):c.788_792del (p.Asp263fs) rs786205010
NM_005249.5(FOXG1):c.791T>G (p.Val264Gly)
NM_005249.5(FOXG1):c.793_808del (p.Phe265fs) rs2138661547
NM_005249.5(FOXG1):c.797T>C (p.Ile266Thr)
NM_005249.5(FOXG1):c.797T>G (p.Ile266Ser) rs886041744
NM_005249.5(FOXG1):c.814_821del (p.Lys272fs)
NM_005249.5(FOXG1):c.821G>A (p.Arg274Gln) rs869312700
NM_005249.5(FOXG1):c.821G>C (p.Arg274Pro) rs869312700
NM_005249.5(FOXG1):c.841del (p.Arg281fs)
NM_005249.5(FOXG1):c.85del (p.Gln29fs) rs1594382746
NM_005249.5(FOXG1):c.921C>G (p.Tyr307Ter) rs2138661742
NM_005249.5(FOXG1):c.924G>A (p.Trp308Ter) rs267606827
NM_005249.5(FOXG1):c.943_949dup (p.His317fs) rs2138661778
NM_005249.5(FOXG1):c.946del (p.Leu316fs) rs1555321380
NM_005249.5(FOXG1):c.958del (p.Arg320fs) rs1555321382
NM_005249.5(FOXG1):c.969del (p.Ser323fs) rs786205011
NM_005249.5(FOXG1):c.974dup (p.Leu325fs) rs2138661811
NM_005249.5(FOXG1):c.981C>A (p.Tyr327Ter)
NM_005249.5(FOXG1):c.982_989dup (p.Ser332fs) rs1594384015
NM_005249.5(FOXG1):c.995del (p.Ser332fs)
t(9;14)(q22.31;q12)

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.