ClinVar Miner

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

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Total variants: 135
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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.541A>T (p.Lys181Ter)
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.648_649insAT (p.Tyr217fs)
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.694A>G (p.Asn232Asp) rs786205486
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)

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