ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_002055.5(GFAP):c.893C>T (p.Ser298Phe) rs760672791 0.00008
NM_002055.5(GFAP):c.625C>T (p.Arg209Trp) rs146725018 0.00006
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.1171+139G>A rs1035546777 0.00001
NM_002055.5(GFAP):c.1262T>C (p.Ile421Thr) rs1064797222 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+66T>A rs1295754912
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.607A>G (p.Ile203Val) rs2145638476
NM_002055.5(GFAP):c.752A>G (p.His251Arg) rs2051815542
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

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