ClinVar Miner

List of variants in gene GFAP studied for Alexander disease

Included ClinVar conditions (1):
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Gene type:
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Total variants: 161
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HGVS dbSNP
NM_001131019.3(GFAP):c.1086G>C (p.Glu362Asp) rs121909718
NM_001363846.1(GFAP):c.-34C>T rs528716689
NM_002055.4(GFAP):c.[236G>A;667G>C]
NM_002055.4(GFAP):c.[988C>G;994G>A]
NM_002055.5(GFAP):c.*1014G>A rs113627279
NM_002055.5(GFAP):c.*1276C>T rs146927331
NM_002055.5(GFAP):c.*1285C>T rs111477608
NM_002055.5(GFAP):c.*1356C>T rs572353668
NM_002055.5(GFAP):c.*1550C>A rs571674072
NM_002055.5(GFAP):c.*1629C>T rs567636153
NM_002055.5(GFAP):c.*1695T>C rs149747152
NM_002055.5(GFAP):c.*16G>A rs113487550
NM_002055.5(GFAP):c.*27C>T rs544481265
NM_002055.5(GFAP):c.*30G>A rs201709616
NM_002055.5(GFAP):c.*46G>A rs770321525
NM_002055.5(GFAP):c.*630G>A rs72828813
NM_002055.5(GFAP):c.*742C>T rs149058649
NM_002055.5(GFAP):c.1049_1050insCTTGCA (p.Gln350_Asp351insHisLeu) rs797044584
NM_002055.5(GFAP):c.1051G>C (p.Asp351His) rs797044585
NM_002055.5(GFAP):c.1055T>C (p.Leu352Pro) rs28932769
NM_002055.5(GFAP):c.1070T>C (p.Leu357Pro) rs267607515
NM_002055.5(GFAP):c.1073C>T (p.Ala358Val) rs797044586
NM_002055.5(GFAP):c.1074C>G (p.Ala358=) rs797044587
NM_002055.5(GFAP):c.1075C>G (p.Leu359Val) rs60825166
NM_002055.5(GFAP):c.1076T>C (p.Leu359Pro) rs267607511
NM_002055.5(GFAP):c.1079A>T (p.Asp360Val) rs62636501
NM_002055.5(GFAP):c.1085A>G (p.Glu362Gly) rs797044588
NM_002055.5(GFAP):c.1090G>A (p.Ala364Thr) rs58645997
NM_002055.5(GFAP):c.1090G>C (p.Ala364Pro) rs58645997
NM_002055.5(GFAP):c.1091C>T (p.Ala364Val) rs267607503
NM_002055.5(GFAP):c.1096T>C (p.Tyr366His) rs58008462
NM_002055.5(GFAP):c.1097A>G (p.Tyr366Cys) rs267607502
NM_002055.5(GFAP):c.1111G>C (p.Glu371Gln) rs267607526
NM_002055.5(GFAP):c.1112A>G (p.Glu371Gly) rs57815192
NM_002055.5(GFAP):c.1112A>T (p.Glu371Val) rs57815192
NM_002055.5(GFAP):c.1117G>A (p.Glu373Lys) rs58075601
NM_002055.5(GFAP):c.1117G>C (p.Glu373Gln) rs58075601
NM_002055.5(GFAP):c.1118A>C (p.Glu373Ala) rs797044589
NM_002055.5(GFAP):c.1121A>G (p.Glu374Gly) rs59628143
NM_002055.5(GFAP):c.1125C>G (p.Asn375Lys) rs1567773470
NM_002055.5(GFAP):c.1126C>T (p.Arg376Trp) rs267607512
NM_002055.5(GFAP):c.1148C>T (p.Thr383Ile) rs267607517
NM_002055.5(GFAP):c.1154C>G (p.Ser385Cys) rs797044590
NM_002055.5(GFAP):c.1154C>T (p.Ser385Phe) rs797044590
NM_002055.5(GFAP):c.1157A>T (p.Asn386Ile) rs61726471
NM_002055.5(GFAP):c.1171+420C>T rs180974014
NM_002055.5(GFAP):c.1171+472G>A rs748860341
NM_002055.5(GFAP):c.1171+473C>A
NM_002055.5(GFAP):c.1171+475_1171+482delinsATC rs797044592
NM_002055.5(GFAP):c.1171+5G>A rs759032212
NM_002055.5(GFAP):c.1178G>T (p.Ser393Ile) rs62635764
NM_002055.5(GFAP):c.1193C>A (p.Ser398Tyr) rs267607508
NM_002055.5(GFAP):c.1193C>T (p.Ser398Phe) rs267607508
NM_002055.5(GFAP):c.1235C>T (p.Thr412Ile)
NM_002055.5(GFAP):c.1236C>A (p.Thr412=) rs146298944
NM_002055.5(GFAP):c.1246C>T (p.Arg416Trp) rs121909717
NM_002055.5(GFAP):c.1249del (p.Asp417fs) rs797044591
NM_002055.5(GFAP):c.1250A>C (p.Asp417Ala) rs267607520
NM_002055.5(GFAP):c.1277A>T (p.Gln426Leu) rs267607521
NM_002055.5(GFAP):c.140C>T (p.Pro47Leu) rs57474185
NM_002055.5(GFAP):c.141G>A (p.Pro47=) rs2229011
NM_002055.5(GFAP):c.179C>A (p.Ala60Asp) rs886053020
NM_002055.5(GFAP):c.187A>C (p.Lys63Gln) rs60095124
NM_002055.5(GFAP):c.197G>A (p.Arg66Gln) rs797044569
NM_002055.5(GFAP):c.205G>A (p.Glu69Lys) rs797044570
NM_002055.5(GFAP):c.208C>T (p.Arg70Trp) rs60343255
NM_002055.5(GFAP):c.209G>A (p.Arg70Gln) rs267607510
NM_002055.5(GFAP):c.214G>A (p.Glu72Lys) rs267607523
NM_002055.5(GFAP):c.215A>G (p.Glu72Gly) rs1057518685
NM_002055.5(GFAP):c.218T>A (p.Met73Lys) rs61060395
NM_002055.5(GFAP):c.218T>C (p.Met73Thr) rs61060395
NM_002055.5(GFAP):c.218T>G (p.Met73Arg) rs61060395
NM_002055.5(GFAP):c.221T>C (p.Met74Thr) rs267607504
NM_002055.5(GFAP):c.226C>G (p.Leu76Val) rs57120761
NM_002055.5(GFAP):c.226C>T (p.Leu76Phe) rs57120761
NM_002055.5(GFAP):c.229A>T (p.Asn77Tyr) rs58732244
NM_002055.5(GFAP):c.230A>G (p.Asn77Ser) rs57590980
NM_002055.5(GFAP):c.232G>A (p.Asp78Asn) rs797044571
NM_002055.5(GFAP):c.234C>A (p.Asp78Glu) rs121909720
NM_002055.5(GFAP):c.235C>G (p.Arg79Gly) rs59793293
NM_002055.5(GFAP):c.235C>T (p.Arg79Cys) rs59793293
NM_002055.5(GFAP):c.236G>A (p.Arg79His) rs59285727
NM_002055.5(GFAP):c.236G>C (p.Arg79Pro) rs59285727
NM_002055.5(GFAP):c.236G>T (p.Arg79Leu) rs59285727
NM_002055.5(GFAP):c.239T>C (p.Phe80Ser) rs797044572
NM_002055.5(GFAP):c.242C>A (p.Ala81Asp)
NM_002055.5(GFAP):c.247T>C (p.Tyr83His) rs267607506
NM_002055.5(GFAP):c.256A>G (p.Lys86Glu) rs797044573
NM_002055.5(GFAP):c.256_259delinsGAGT (p.Lys86_Val87delinsGluPhe) rs267607501
NM_002055.5(GFAP):c.259G>A (p.Val87Ile) rs267607518
NM_002055.5(GFAP):c.259G>C (p.Val87Leu) rs267607518
NM_002055.5(GFAP):c.260T>G (p.Val87Gly) rs60449251
NM_002055.5(GFAP):c.262C>A (p.Arg88Ser) rs61622935
NM_002055.5(GFAP):c.262C>T (p.Arg88Cys) rs61622935
NM_002055.5(GFAP):c.269T>C (p.Leu90Pro) rs59661476
NM_002055.5(GFAP):c.278A>C (p.Gln93Pro) rs797044574
NM_002055.5(GFAP):c.290T>C (p.Leu97Pro) rs59568967
NM_002055.5(GFAP):c.302T>C (p.Leu101Pro) rs267607516
NM_002055.5(GFAP):c.313C>T (p.Arg105Trp) rs139838162
NM_002055.5(GFAP):c.329C>G (p.Thr110Ser) rs147282497
NM_002055.5(GFAP):c.342C>A (p.Asp114Glu) rs115282391
NM_002055.5(GFAP):c.352G>C (p.Ala118Pro) rs886053019
NM_002055.5(GFAP):c.365_373dup (p.Leu125_Arg126insGlnLeuArg) rs797044575
NM_002055.5(GFAP):c.369_374GCGGCT[3] (p.124_125RL[3]) rs797044576
NM_002055.5(GFAP):c.381C>T (p.Leu127=) rs138320302
NM_002055.5(GFAP):c.382G>A (p.Asp128Asn) rs267607509
NM_002055.5(GFAP):c.42C>T (p.Tyr14=) rs140252141
NM_002055.5(GFAP):c.43G>A (p.Val15Ile) rs146698039
NM_002055.5(GFAP):c.462-11C>T rs184208563
NM_002055.5(GFAP):c.462-13dup rs572562362
NM_002055.5(GFAP):c.462G>A (p.Lys154=) rs886053018
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) rs59291670
NM_002055.5(GFAP):c.547C>T (p.Arg183Cys) rs201656479
NM_002055.5(GFAP):c.613G>A (p.Glu205Lys) rs267607507
NM_002055.5(GFAP):c.619-12C>T rs3744468
NM_002055.5(GFAP):c.619-3C>G rs112611995
NM_002055.5(GFAP):c.619-9C>G rs3744469
NM_002055.5(GFAP):c.619G>A (p.Glu207Lys) rs267607500
NM_002055.5(GFAP):c.619G>C (p.Glu207Gln) rs267607500
NM_002055.5(GFAP):c.628G>A (p.Glu210Lys) rs57661783
NM_002055.5(GFAP):c.667G>C (p.Glu223Gln) rs56679084
NM_002055.5(GFAP):c.675C>T (p.Asp225=) rs146443487
NM_002055.5(GFAP):c.692T>A (p.Leu231His) rs797044577
NM_002055.5(GFAP):c.704T>C (p.Leu235Pro) rs60269890
NM_002055.5(GFAP):c.707A>C (p.Lys236Thr) rs267607525
NM_002055.5(GFAP):c.715C>G (p.Arg239Gly) rs58064122
NM_002055.5(GFAP):c.715C>T (p.Arg239Cys) rs58064122
NM_002055.5(GFAP):c.716G>A (p.Arg239His) rs59565950
NM_002055.5(GFAP):c.716G>C (p.Arg239Pro) rs59565950
NM_002055.5(GFAP):c.716G>T (p.Arg239Leu) rs59565950
NM_002055.5(GFAP):c.720G>T (p.Thr240=) rs2229012
NM_002055.5(GFAP):c.724T>G (p.Tyr242Asp) rs60551555
NM_002055.5(GFAP):c.731C>T (p.Ala244Val) rs61497286
NM_002055.5(GFAP):c.738G>A (p.Ala246=) rs147404772
NM_002055.5(GFAP):c.739T>C (p.Ser247Pro) rs267607519
NM_002055.5(GFAP):c.758C>G (p.Ala253Gly) rs61726470
NM_002055.5(GFAP):c.759C>T (p.Ala253=) rs190972724
NM_002055.5(GFAP):c.770A>G (p.Tyr257Cys) rs267607505
NM_002055.5(GFAP):c.772C>T (p.Arg258Cys) rs797044578
NM_002055.5(GFAP):c.773G>C (p.Arg258Pro) rs61726468
NM_002055.5(GFAP):c.791T>C (p.Leu264Pro) rs797044579
NM_002055.5(GFAP):c.791_792delinsCT (p.Leu264Pro) rs797044580
NM_002055.5(GFAP):c.799G>C (p.Ala267Pro) rs797044581
NM_002055.5(GFAP):c.803C>A (p.Ala268Asp) rs797044582
NM_002055.5(GFAP):c.827G>T (p.Arg276Leu) rs121909719
NM_002055.5(GFAP):c.835A>G (p.Lys279Glu) rs58536923
NM_002055.5(GFAP):c.848A>G (p.Asn283Ser) rs201382676
NM_002055.5(GFAP):c.858G>A (p.Arg286=) rs2289681
NM_002055.5(GFAP):c.868C>G (p.Gln290Glu) rs797044583
NM_002055.5(GFAP):c.883G>A (p.Asp295Asn) rs1126642
NM_002055.5(GFAP):c.930G>A (p.Met310Ile) rs755602073
NM_002055.5(GFAP):c.934G>T (p.Glu312Ter) rs763868966
NM_002055.5(GFAP):c.947G>A (p.Arg316Gln) rs140004406
NM_002055.5(GFAP):c.957G>A (p.Arg319=) rs61733890
NM_002055.5(GFAP):c.96T>C (p.Gly32=) rs60045579
NM_002055.5(GFAP):c.989G>C (p.Arg330Pro) rs983143417
NM_002055.5(GFAP):c.992T>C (p.Leu331Pro) rs59985777
NM_002055.5(GFAP):c.994G>A (p.Glu332Lys) rs267607514
NP_002046.1(GFAP):p.Glu373Asp
NP_002046.1(GFAP):p.Met415Ile
NP_002046.1:p.Phe261_Thr302del

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