ClinVar Miner

List of variants in gene GFAP reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 54
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) rs59291670 0.01088
NM_002055.5(GFAP):c.738G>A (p.Ala246=) rs147404772 0.00624
NM_002055.5(GFAP):c.140C>T (p.Pro47Leu) rs57474185 0.00543
NM_002055.5(GFAP):c.720G>T (p.Thr240=) rs2229012 0.00494
NM_002055.5(GFAP):c.313C>T (p.Arg105Trp) rs139838162 0.00244
NM_002055.5(GFAP):c.675C>T (p.Asp225=) rs146443487 0.00130
NM_002055.5(GFAP):c.433G>A (p.Ala145Thr) rs141400812 0.00065
NM_002055.5(GFAP):c.1171+421G>A rs199641633 0.00050
NM_002055.5(GFAP):c.1171+467G>A rs200468026 0.00041
NM_002055.5(GFAP):c.42C>T (p.Tyr14=) rs140252141 0.00035
NM_002055.5(GFAP):c.667G>C (p.Glu223Gln) rs56679084 0.00027
NM_002055.5(GFAP):c.-1G>A rs370571565 0.00023
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.43G>A (p.Val15Ile) rs146698039 0.00013
NM_002055.5(GFAP):c.893C>T (p.Ser298Phe) rs760672791 0.00008
NM_002055.5(GFAP):c.1171+474G>A rs370385098 0.00006
NM_002055.5(GFAP):c.625C>T (p.Arg209Trp) rs146725018 0.00006
NM_002055.5(GFAP):c.516T>C (p.Tyr172=) rs143583428 0.00005
NM_002055.5(GFAP):c.522+12G>A rs570491117 0.00005
NM_002055.5(GFAP):c.159C>T (p.Ser53=) rs201451094 0.00004
NM_002055.5(GFAP):c.85C>T (p.Arg29Cys) rs370903792 0.00004
NM_002055.5(GFAP):c.88C>T (p.Arg30Cys) rs770249831 0.00004
NM_002055.5(GFAP):c.107G>A (p.Arg36His) rs375709542 0.00003
NM_002055.5(GFAP):c.31C>T (p.Arg11Cys) rs749815672 0.00003
NM_002055.5(GFAP):c.734T>C (p.Met245Thr) rs151327900 0.00003
NM_002055.5(GFAP):c.759C>T (p.Ala253=) rs190972724 0.00002
NM_002055.5(GFAP):c.1154C>G (p.Ser385Cys) rs797044590 0.00001
NM_002055.5(GFAP):c.1171+139G>A rs1035546777 0.00001
NM_002055.5(GFAP):c.1262T>C (p.Ile421Thr) rs1064797222 0.00001
NM_002055.5(GFAP):c.262C>T (p.Arg88Cys) rs61622935 0.00001
NM_002055.5(GFAP):c.599T>C (p.Leu200Ser) rs749666056 0.00001
NM_002055.5(GFAP):c.1049A>G (p.Gln350Arg) rs2051757454
NM_002055.5(GFAP):c.1171+143C>T rs2508930099
NM_002055.5(GFAP):c.1171+20G>C rs369540242
NM_002055.5(GFAP):c.1171+66T>A rs1295754912
NM_002055.5(GFAP):c.1236C>A (p.Thr412=) rs146298944
NM_002055.5(GFAP):c.1236C>T (p.Thr412=) rs146298944
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.226C>T (p.Leu76Phe) rs57120761
NM_002055.5(GFAP):c.236G>A (p.Arg79His) rs59285727
NM_002055.5(GFAP):c.488T>C (p.Leu163Pro) rs780225821
NM_002055.5(GFAP):c.498G>T (p.Glu166Asp) rs2508944327
NM_002055.5(GFAP):c.531T>C (p.Asp177=) rs2145638740
NM_002055.5(GFAP):c.607A>G (p.Ile203Val) rs2145638476
NM_002055.5(GFAP):c.716G>A (p.Arg239His) rs59565950
NM_002055.5(GFAP):c.752A>G (p.His251Arg) rs2051815542
NM_002055.5(GFAP):c.76G>A (p.Ala26Thr) rs1231379140
NM_002055.5(GFAP):c.866T>A (p.Leu289Ter) rs2051773949
NM_002055.5(GFAP):c.906+7G>A rs1064797224
NM_002055.5(GFAP):c.917T>C (p.Leu306Pro) rs2145633326
NM_002055.5(GFAP):c.936G>A (p.Glu312=) rs1064797223
NM_002055.5(GFAP):c.947G>A (p.Arg316Gln) rs140004406

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.