ClinVar Miner

List of variants in gene GFAP reported as pathogenic for central nervous system disorder

Included ClinVar conditions (2498):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_002055.5(GFAP):c.667G>C (p.Glu223Gln) rs56679084 0.00027
NM_002055.5(GFAP):c.1154C>G (p.Ser385Cys) rs797044590 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.1055T>C (p.Leu352Pro) rs28932769
NM_002055.5(GFAP):c.1171+475_1171+482delinsATC rs797044592
NM_002055.5(GFAP):c.1193C>T (p.Ser398Phe) rs267607508
NM_002055.5(GFAP):c.1246C>T (p.Arg416Trp) rs121909717
NM_002055.5(GFAP):c.208C>T (p.Arg70Trp) rs60343255
NM_002055.5(GFAP):c.217A>G (p.Met73Val) rs2145642617
NM_002055.5(GFAP):c.218T>C (p.Met73Thr) rs61060395
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.234C>A (p.Asp78Glu) rs121909720
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.242C>A (p.Ala81Asp) rs1597864461
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.262C>A (p.Arg88Ser) rs61622935
NM_002055.5(GFAP):c.262C>T (p.Arg88Cys) rs61622935
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>T (p.Arg239Leu) rs59565950
NM_002055.5(GFAP):c.772C>T (p.Arg258Cys) rs797044578
NM_002055.5(GFAP):c.791T>C (p.Leu264Pro) rs797044579
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.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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