ClinVar Miner

List of variants in gene GFAP reported as pathogenic for not provided

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Gene type:
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_002055.5(GFAP):c.1154C>G (p.Ser385Cys) rs797044590 0.00001
NM_002055.5(GFAP):c.1157A>G (p.Asn386Ser) rs61726471 0.00001
NM_002055.5(GFAP):c.235C>T (p.Arg79Cys) rs59793293 0.00001
NM_002055.5(GFAP):c.262C>T (p.Arg88Cys) rs61622935 0.00001
NM_002055.5(GFAP):c.1157A>T (p.Asn386Ile) rs61726471
NM_002055.5(GFAP):c.1246C>T (p.Arg416Trp) rs121909717
NM_002055.5(GFAP):c.197G>A (p.Arg66Gln) rs797044569
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.230A>G (p.Asn77Ser) rs57590980
NM_002055.5(GFAP):c.231T>A (p.Asn77Lys) rs149404477
NM_002055.5(GFAP):c.232G>T (p.Asp78Tyr) 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.236G>A (p.Arg79His) rs59285727
NM_002055.5(GFAP):c.259G>A (p.Val87Ile) rs267607518
NM_002055.5(GFAP):c.382G>A (p.Asp128Asn) rs267607509
NM_002055.5(GFAP):c.617_618+1del
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.758C>G (p.Ala253Gly) rs61726470
NM_002055.5(GFAP):c.772C>T (p.Arg258Cys) rs797044578

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