ClinVar Miner

List of variants in gene GFAP studied for central nervous system disorder

Included ClinVar conditions (2490):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 127
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002055.5(GFAP):c.*16G>A rs113487550 0.02451
NM_002055.5(GFAP):c.140C>T (p.Pro47Leu) rs57474185 0.00543
NM_002055.5(GFAP):c.957G>A (p.Arg319=) rs61733890 0.00516
NM_002055.5(GFAP):c.313C>T (p.Arg105Trp) rs139838162 0.00244
NM_002055.5(GFAP):c.667G>C (p.Glu223Gln) rs56679084 0.00027
NM_002055.5(GFAP):c.329C>G (p.Thr110Ser) rs147282497 0.00020
NM_002055.5(GFAP):c.381C>T (p.Leu127=) rs138320302 0.00015
NM_002055.5(GFAP):c.893C>T (p.Ser298Phe) rs760672791 0.00009
NM_002055.5(GFAP):c.1171+420C>T rs180974014 0.00005
NM_002055.5(GFAP):c.1171+5G>A rs759032212 0.00003
NM_002055.5(GFAP):c.504C>A (p.Asn168Lys) rs745894599 0.00002
NM_002055.5(GFAP):c.1154C>G (p.Ser385Cys) rs797044590 0.00001
NM_002055.5(GFAP):c.1171+144T>C rs560230868 0.00001
NM_002055.5(GFAP):c.362G>A (p.Arg121Gln) rs769619261 0.00001
NM_002055.5(GFAP):c.462-2A>G rs1338213981 0.00001
NM_002055.5(GFAP):c.697G>A (p.Ala233Thr) rs1220287768 0.00001
NM_002055.5(GFAP):c.793A>G (p.Thr265Ala) rs758250219 0.00001
NM_002055.5(GFAP):c.882C>A (p.Cys294Ter) rs200034725 0.00001
NM_002055.4(GFAP):c.[236G>A;667G>C]
NM_002055.4(GFAP):c.[988C>G;994G>A]
NM_002055.5(GFAP):c.1030C>G (p.Arg344Gly)
NM_002055.5(GFAP):c.1049_1050insCTTGCA (p.Tyr349_Gln350insHisLeu) 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.1148C>T (p.Thr383Ile) rs267607517
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+472G>A rs748860341
NM_002055.5(GFAP):c.1171+472G>C rs748860341
NM_002055.5(GFAP):c.1171+473C>A rs775524073
NM_002055.5(GFAP):c.1171+475_1171+482delinsATC rs797044592
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) rs1597853099
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.145C>T (p.Arg49Trp)
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.217A>G (p.Met73Val) rs2145642617
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.227T>C (p.Leu76Pro)
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) rs1597864461
NM_002055.5(GFAP):c.247T>C (p.Tyr83His) rs267607506
NM_002055.5(GFAP):c.252C>G (p.Ile84Met) rs571151302
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.287C>T (p.Ala96Val)
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.365_373dup (p.Arg124_Leu125insGlnLeuArg) rs797044575
NM_002055.5(GFAP):c.368T>C (p.Leu123Pro)
NM_002055.5(GFAP):c.369GCGGCT[3] (p.124RL[3]) rs797044576
NM_002055.5(GFAP):c.371G>A (p.Arg124Gln)
NM_002055.5(GFAP):c.382G>A (p.Asp128Asn) rs267607509
NM_002055.5(GFAP):c.462-8dup rs572562362
NM_002055.5(GFAP):c.476C>T (p.Thr159Ile)
NM_002055.5(GFAP):c.488T>C (p.Leu163Pro) rs780225821
NM_002055.5(GFAP):c.613G>A (p.Glu205Lys) rs267607507
NM_002055.5(GFAP):c.619-3C>G rs112611995
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.625C>G (p.Arg209Gly)
NM_002055.5(GFAP):c.628G>A (p.Glu210Lys) rs57661783
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.706A>G (p.Lys236Glu) rs2145637388
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.719C>T (p.Thr240Met)
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.739T>C (p.Ser247Pro) rs267607519
NM_002055.5(GFAP):c.758C>G (p.Ala253Gly) rs61726470
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.858G>C (p.Arg286=) rs2289681
NM_002055.5(GFAP):c.868C>G (p.Gln290Glu) rs797044583
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.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

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.