ClinVar Miner

List of variants reported as uncertain significance for Rett syndrome, congenital variant

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Total variants: 164
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HGVS dbSNP gnomAD frequency
NM_005249.5(FOXG1):c.221C>A (p.Pro74Gln) rs796052452 0.01958
NM_005249.5(FOXG1):c.209A>C (p.Gln70Pro) rs587783633 0.00026
NM_005249.5(FOXG1):c.456G>T (p.Gly152=) rs587783637 0.00020
NM_005249.5(FOXG1):c.218A>C (p.Gln73Pro) rs760663911 0.00015
NM_005249.5(FOXG1):c.1045T>G (p.Ser349Ala) rs796052472 0.00004
NM_005249.5(FOXG1):c.1278G>A (p.Met426Ile) rs747138265 0.00003
NM_005249.5(FOXG1):c.506G>C (p.Gly169Ala) rs796052480 0.00003
NM_005249.5(FOXG1):c.271C>A (p.Pro91Thr) rs1555321245 0.00002
NM_005249.5(FOXG1):c.1058A>G (p.Asn353Ser) rs749879411 0.00001
NM_005249.5(FOXG1):c.1195A>T (p.Thr399Ser) rs765839485 0.00001
NM_005249.5(FOXG1):c.1276A>G (p.Met426Val) rs1161131663 0.00001
NM_005249.5(FOXG1):c.1316C>T (p.Ala439Val) rs770118439 0.00001
NM_005249.5(FOXG1):c.131A>C (p.His44Pro) rs1555321183 0.00001
NM_005249.5(FOXG1):c.134C>T (p.Pro45Leu) rs780437753 0.00001
NM_005249.5(FOXG1):c.193C>T (p.Pro65Ser) rs1165833768 0.00001
NM_005249.5(FOXG1):c.253C>T (p.Pro85Ser) rs1881786716 0.00001
NM_005249.5(FOXG1):c.263G>A (p.Arg88Gln) rs1046668279 0.00001
NM_005249.5(FOXG1):c.404G>T (p.Gly135Val) rs1350013753 0.00001
NC_000014.8:g.(?_29236466)_(29237975_?)dup
NC_000014.8:g.(?_29236486)_(29237955_?)dup
NM_005249.5(FOXG1):c.1001A>G (p.Tyr334Cys) rs2138661853
NM_005249.5(FOXG1):c.103G>A (p.Ala35Thr) rs767463607
NM_005249.5(FOXG1):c.1117C>T (p.Pro373Ser) rs2138661973
NM_005249.5(FOXG1):c.1123G>A (p.Ala375Thr) rs1594384127
NM_005249.5(FOXG1):c.1181T>G (p.Val394Gly) rs1881820863
NM_005249.5(FOXG1):c.119A>G (p.His40Arg)
NM_005249.5(FOXG1):c.1208A>G (p.Asn403Ser) rs972290676
NM_005249.5(FOXG1):c.1223A>G (p.Asn408Ser)
NM_005249.5(FOXG1):c.1235G>A (p.Gly412Asp)
NM_005249.5(FOXG1):c.123C>T (p.Asn41=)
NM_005249.5(FOXG1):c.1254C>A (p.Phe418Leu) rs777770149
NM_005249.5(FOXG1):c.1256C>T (p.Pro419Leu) rs1555321437
NM_005249.5(FOXG1):c.1257C>T (p.Pro419=)
NM_005249.5(FOXG1):c.125G>C (p.Ser42Thr) rs565419356
NM_005249.5(FOXG1):c.1288A>G (p.Ser430Gly)
NM_005249.5(FOXG1):c.128A>G (p.His43Arg)
NM_005249.5(FOXG1):c.1297T>A (p.Ser433Thr)
NM_005249.5(FOXG1):c.1324T>G (p.Ser442Ala)
NM_005249.5(FOXG1):c.1337A>T (p.Gln446Leu)
NM_005249.5(FOXG1):c.1347G>A (p.Ser449=)
NM_005249.5(FOXG1):c.134C>A (p.Pro45His) rs780437753
NM_005249.5(FOXG1):c.1351C>T (p.Leu451=)
NM_005249.5(FOXG1):c.1397G>A (p.Gly466Glu) rs1566446008
NM_005249.5(FOXG1):c.1406G>T (p.Gly469Val)
NM_005249.5(FOXG1):c.1414T>A (p.Ser472Thr)
NM_005249.5(FOXG1):c.141CCA[10] (p.His55_His57dup) rs587783630
NM_005249.5(FOXG1):c.1426A>G (p.Thr476Ala)
NM_005249.5(FOXG1):c.142C>T (p.His48Tyr)
NM_005249.5(FOXG1):c.1434A>G (p.Gln478=)
NM_005249.5(FOXG1):c.1439A>C (p.Gln480Pro)
NM_005249.5(FOXG1):c.1443G>A (p.Gly481=)
NM_005249.5(FOXG1):c.1458T>G (p.Pro486=)
NM_005249.5(FOXG1):c.149A>G (p.His50Arg) rs1255838501
NM_005249.5(FOXG1):c.158_172del (p.His53_His57del) rs1462202735
NM_005249.5(FOXG1):c.173C>A (p.Pro58Gln)
NM_005249.5(FOXG1):c.176C>T (p.Pro59Leu) rs772898039
NM_005249.5(FOXG1):c.183_203dup (p.Pro68_Pro69insAlaProGlnProProProPro)
NM_005249.5(FOXG1):c.197C>T (p.Pro66Leu)
NM_005249.5(FOXG1):c.1A>T (p.Met1Leu) rs1168923100
NM_005249.5(FOXG1):c.204G>T (p.Pro68=)
NM_005249.5(FOXG1):c.209_235del (p.Gln70_Pro78del) rs587783634
NM_005249.5(FOXG1):c.219G>T (p.Gln73His) rs1881784155
NM_005249.5(FOXG1):c.21G>A (p.Arg7=)
NM_005249.5(FOXG1):c.224C>T (p.Pro75Leu) rs1881784707
NM_005249.5(FOXG1):c.227C>T (p.Pro76Leu) rs1381438340
NM_005249.5(FOXG1):c.230C>T (p.Pro77Leu)
NM_005249.5(FOXG1):c.235C>G (p.Pro79Ala) rs1054291031
NM_005249.5(FOXG1):c.237_239del (p.Pro80del)
NM_005249.5(FOXG1):c.24_26del (p.Glu9del)
NM_005249.5(FOXG1):c.251C>G (p.Pro84Arg) rs866815665
NM_005249.5(FOXG1):c.251C>T (p.Pro84Leu) rs866815665
NM_005249.5(FOXG1):c.254C>G (p.Pro85Arg) rs1822450268
NM_005249.5(FOXG1):c.259A>C (p.Thr87Pro) rs1566445056
NM_005249.5(FOXG1):c.268G>A (p.Ala90Thr) rs906816341
NM_005249.5(FOXG1):c.268G>T (p.Ala90Ser) rs906816341
NM_005249.5(FOXG1):c.269C>T (p.Ala90Val) rs1594383160
NM_005249.5(FOXG1):c.277G>A (p.Ala93Thr) rs1443045749
NM_005249.5(FOXG1):c.27G>A (p.Glu9=)
NM_005249.5(FOXG1):c.283G>A (p.Asp95Asn)
NM_005249.5(FOXG1):c.287A>C (p.Asp96Ala) rs1384097436
NM_005249.5(FOXG1):c.290A>G (p.Lys97Arg) rs2138660569
NM_005249.5(FOXG1):c.295C>G (p.Pro99Ala) rs2138660575
NM_005249.5(FOXG1):c.310C>T (p.Leu104Phe)
NM_005249.5(FOXG1):c.314_318delinsAGCCGCCGCCA (p.Leu104_Pro105insGlnPro) rs1594383202
NM_005249.5(FOXG1):c.315GCC[4] (p.Pro112dup) rs1319234983
NM_005249.5(FOXG1):c.315GCC[6] (p.Pro112_Ala113insProProPro)
NM_005249.5(FOXG1):c.321GCCACC[3] (p.Pro111_Pro112dup) rs796052475
NM_005249.5(FOXG1):c.325C>A (p.Pro109Thr) rs1313908557
NM_005249.5(FOXG1):c.328_336del (p.Pro110_Pro112del) rs1231147476
NM_005249.5(FOXG1):c.344C>T (p.Ala115Val) rs796052454
NM_005249.5(FOXG1):c.350A>G (p.Asp117Gly)
NM_005249.5(FOXG1):c.352G>A (p.Gly118Arg)
NM_005249.5(FOXG1):c.361G>C (p.Ala121Pro) rs1184220259
NM_005249.5(FOXG1):c.367G>A (p.Gly123Arg) rs758610493
NM_005249.5(FOXG1):c.379_396del (p.Lys127_Gly132del)
NM_005249.5(FOXG1):c.386_397dup (p.Glu129_Gly132dup) rs796052456
NM_005249.5(FOXG1):c.392G>C (p.Gly131Ala)
NM_005249.5(FOXG1):c.392G>T (p.Gly131Val)
NM_005249.5(FOXG1):c.394G>A (p.Gly132Ser) rs1881792848
NM_005249.5(FOXG1):c.397G>C (p.Gly133Arg) rs2138660762
NM_005249.5(FOXG1):c.398G>A (p.Gly133Glu)
NM_005249.5(FOXG1):c.40C>T (p.Pro14Ser)
NM_005249.5(FOXG1):c.412G>A (p.Ala138Thr)
NM_005249.5(FOXG1):c.415C>T (p.Pro139Ser)
NM_005249.5(FOXG1):c.422G>T (p.Gly141Val)
NM_005249.5(FOXG1):c.424C>G (p.Pro142Ala)
NM_005249.5(FOXG1):c.426G>T (p.Pro142=)
NM_005249.5(FOXG1):c.429C>G (p.Asp143Glu) rs755388144
NM_005249.5(FOXG1):c.430G>A (p.Glu144Lys) rs797045583
NM_005249.5(FOXG1):c.436_438del (p.Glu146del) rs751048593
NM_005249.5(FOXG1):c.440A>T (p.Lys147Met) rs1417091060
NM_005249.5(FOXG1):c.443G>A (p.Gly148Asp) rs781726187
NM_005249.5(FOXG1):c.443G>T (p.Gly148Val) rs781726187
NM_005249.5(FOXG1):c.444CGCCGG[3] (p.Gly152_Gly153insAlaGly)
NM_005249.5(FOXG1):c.445G>T (p.Ala149Ser) rs1881796126
NM_005249.5(FOXG1):c.451G>C (p.Ala151Pro) rs1881796451
NM_005249.5(FOXG1):c.454G>A (p.Gly152Arg) rs1365260962
NM_005249.5(FOXG1):c.455G>T (p.Gly152Val) rs796052460
NM_005249.5(FOXG1):c.457G>A (p.Gly153Arg) rs1881797133
NM_005249.5(FOXG1):c.458G>T (p.Gly153Val) rs1555321286
NM_005249.5(FOXG1):c.460GAG[1] (p.Glu155del) rs1175471807
NM_005249.5(FOXG1):c.466AAG[1] (p.Lys157del) rs1424025007
NM_005249.5(FOXG1):c.46T>C (p.Ser16Pro)
NM_005249.5(FOXG1):c.471G>T (p.Lys157Asn)
NM_005249.5(FOXG1):c.480C>T (p.Gly160=)
NM_005249.5(FOXG1):c.496G>A (p.Gly166Arg)
NM_005249.5(FOXG1):c.497G>C (p.Gly166Ala) rs760578111
NM_005249.5(FOXG1):c.498G>A (p.Gly166=)
NM_005249.5(FOXG1):c.502G>A (p.Gly168Arg)
NM_005249.5(FOXG1):c.505G>A (p.Gly169Ser) rs530084654
NM_005249.5(FOXG1):c.530G>C (p.Gly177Ala)
NM_005249.5(FOXG1):c.553A>G (p.Ser185Gly) rs879255530
NM_005249.5(FOXG1):c.554G>C (p.Ser185Thr) rs1057516138
NM_005249.5(FOXG1):c.565C>G (p.Leu189Val) rs1555321308
NM_005249.5(FOXG1):c.576G>A (p.Met192Ile)
NM_005249.5(FOXG1):c.597G>A (p.Glu199=)
NM_005249.5(FOXG1):c.606C>T (p.Leu202=)
NM_005249.5(FOXG1):c.620T>C (p.Ile207Thr) rs1881803464
NM_005249.5(FOXG1):c.635_640del (p.Met212_Lys213del)
NM_005249.5(FOXG1):c.655C>G (p.Arg219Gly) rs1555321323
NM_005249.5(FOXG1):c.672C>G (p.Gly224=) rs587783639
NM_005249.5(FOXG1):c.679A>G (p.Asn227Asp) rs1881805333
NM_005249.5(FOXG1):c.680A>T (p.Asn227Ile)
NM_005249.5(FOXG1):c.681C>G (p.Asn227Lys) rs786205012
NM_005249.5(FOXG1):c.681C>T (p.Asn227=)
NM_005249.5(FOXG1):c.6_7insAACGAG (p.Leu2_Asp3insAsnGlu)
NM_005249.5(FOXG1):c.701C>T (p.Ser234Phe) rs1555321334
NM_005249.5(FOXG1):c.706A>G (p.Asn236Asp)
NM_005249.5(FOXG1):c.748G>A (p.Gly250Ser)
NM_005249.5(FOXG1):c.772G>T (p.Asp258Tyr) rs2138661505
NM_005249.5(FOXG1):c.791T>C (p.Val264Ala) rs1881808715
NM_005249.5(FOXG1):c.799GGC[1] (p.Gly268del)
NM_005249.5(FOXG1):c.804C>T (p.Gly268=)
NM_005249.5(FOXG1):c.817C>T (p.Leu273=)
NM_005249.5(FOXG1):c.824G>C (p.Arg275Pro) rs1555321361
NM_005249.5(FOXG1):c.826C>T (p.Arg276Cys) rs2138661609
NM_005249.5(FOXG1):c.864C>A (p.Arg288=)
NM_005249.5(FOXG1):c.869C>T (p.Ala290Val)
NM_005249.5(FOXG1):c.876C>G (p.Leu292=)
NM_005249.5(FOXG1):c.893C>G (p.Thr298Ser) rs2138661708
NM_005249.5(FOXG1):c.907G>T (p.Ala303Ser)
NM_005249.5(FOXG1):c.970A>G (p.Thr324Ala) rs1881813785
NM_005249.5(FOXG1):c.977G>C (p.Ser326Thr)
NM_005249.5(FOXG1):c.998C>T (p.Ala333Val) rs1322496307

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