ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) rs59291670 0.01123
NM_002055.5(GFAP):c.738G>A (p.Ala246=) rs147404772 0.00636
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 0.00053
NM_002055.5(GFAP):c.1171+467G>A rs200468026 0.00043
NM_002055.5(GFAP):c.42C>T (p.Tyr14=) rs140252141 0.00037
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.43G>A (p.Val15Ile) rs146698039 0.00014
NM_002055.5(GFAP):c.893C>T (p.Ser298Phe) rs760672791 0.00009
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.159C>T (p.Ser53=) rs201451094 0.00004
NM_002055.5(GFAP):c.31C>T (p.Arg11Cys) rs749815672 0.00004
NM_002055.5(GFAP):c.522+12G>A rs570491117 0.00004
NM_002055.5(GFAP):c.734T>C (p.Met245Thr) rs151327900 0.00003
NM_002055.5(GFAP):c.85C>T (p.Arg29Cys) rs370903792 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.1262T>C (p.Ile421Thr) rs1064797222 0.00001
NM_002055.5(GFAP):c.-1G>A
NM_002055.5(GFAP):c.1049A>G (p.Gln350Arg) rs2051757454
NM_002055.5(GFAP):c.1171+139G>A
NM_002055.5(GFAP):c.1171+143C>T
NM_002055.5(GFAP):c.1171+66T>A
NM_002055.5(GFAP):c.1236C>A (p.Thr412=) rs146298944
NM_002055.5(GFAP):c.1236C>T (p.Thr412=)
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.262C>T (p.Arg88Cys) rs61622935
NM_002055.5(GFAP):c.488T>C (p.Leu163Pro) rs780225821
NM_002055.5(GFAP):c.498G>T (p.Glu166Asp)
NM_002055.5(GFAP):c.531T>C (p.Asp177=) rs2145638740
NM_002055.5(GFAP):c.607A>G (p.Ile203Val)
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)
NM_002055.5(GFAP):c.866T>A (p.Leu289Ter) rs2051773949
NM_002055.5(GFAP):c.88C>T (p.Arg30Cys)
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

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