ClinVar Miner

List of variants in gene GFAP reported by Epithelial Biology; Institute of Medical Biology, Singapore

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Total variants: 85
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HGVS dbSNP gnomAD frequency
NM_002055.5(GFAP):c.906+81A>G rs2289671 0.47704
NM_002055.4(GFAP):c.-264C>A rs2070935 0.45297
NM_002055.5(GFAP):c.1172-306A>G rs9915329 0.41889
NM_002055.5(GFAP):c.1258-86C>T rs11651396 0.26184
NM_002055.5(GFAP):c.1128-66C>G rs2289679 0.25658
NM_002055.4(GFAP):c.-518T>A rs28485918 0.24949
NM_002055.5(GFAP):c.619-12C>T rs3744468 0.15797
NM_002055.5(GFAP):c.858G>A (p.Arg286=) rs2289681 0.14614
NM_002055.5(GFAP):c.1128-151C>T rs71373526 0.14299
NM_002055.5(GFAP):c.1171+501C>A rs12941832 0.12522
NM_002055.5(GFAP):c.141G>A (p.Pro47=) rs2229011 0.03629
NM_002055.5(GFAP):c.883G>A (p.Asp295Asn) rs1126642 0.03309
NM_002055.5(GFAP):c.619-96G>T rs62065770 0.02663
NM_002055.5(GFAP):c.1171+471C>T rs78994946 0.02172
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) rs59291670 0.01123
NM_002055.5(GFAP):c.96T>C (p.Gly32=) rs60045579 0.00908
NM_002055.5(GFAP):c.140C>T (p.Pro47Leu) rs57474185 0.00543
NM_002055.5(GFAP):c.667G>C (p.Glu223Gln) rs56679084 0.00027
NM_002055.5(GFAP):c.1140C>T (p.Pro380=) rs267607527 0.00010
NM_002055.5(GFAP):c.343G>A (p.Val115Ile) rs56746197 0.00006
NM_002055.5(GFAP):c.759C>T (p.Ala253=) rs190972724 0.00002
NM_002055.5(GFAP):c.*32C>G rs267607669
NM_002055.5(GFAP):c.1055T>C (p.Leu352Pro) rs28932769
NM_002055.5(GFAP):c.1148C>T (p.Thr383Ile) rs267607517
NM_002055.5(GFAP):c.1157A>T (p.Asn386Ile) rs61726471
NM_002055.5(GFAP):c.1178G>T (p.Ser393Ile) rs62635764
NM_002055.5(GFAP):c.1193C>A (p.Ser398Tyr) rs267607508
NM_002055.5(GFAP):c.1246C>T (p.Arg416Trp) rs121909717
NM_002055.5(GFAP):c.1250A>C (p.Asp417Ala) rs267607520
NM_002055.5(GFAP):c.1277A>T (p.Gln426Leu) rs267607521
NM_002055.5(GFAP):c.187A>C (p.Lys63Gln) rs60095124
NM_002055.5(GFAP):c.208C>T (p.Arg70Trp) rs60343255
NM_002055.5(GFAP):c.209G>A (p.Arg70Gln) rs267607510
NM_002055.5(GFAP):c.211G>A (p.Ala71Thr) rs267607522
NM_002055.5(GFAP):c.214G>A (p.Glu72Lys) rs267607523
NM_002055.5(GFAP):c.218T>A (p.Met73Lys) rs61060395
NM_002055.5(GFAP):c.218T>G (p.Met73Arg) rs61060395
NM_002055.5(GFAP):c.221T>C (p.Met74Thr) rs267607504
NM_002055.5(GFAP):c.226C>G (p.Leu76Val) rs57120761
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.235C>A (p.Arg79Ser) rs59793293
NM_002055.5(GFAP):c.235C>G (p.Arg79Gly) rs59793293
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.236G>C (p.Arg79Pro) rs59285727
NM_002055.5(GFAP):c.236G>T (p.Arg79Leu) rs59285727
NM_002055.5(GFAP):c.247T>C (p.Tyr83His) rs267607506
NM_002055.5(GFAP):c.248A>C (p.Tyr83Ser) rs58454592
NM_002055.5(GFAP):c.256_259delinsGAGT (p.Lys86_Val87delinsGluPhe) rs267607501
NM_002055.5(GFAP):c.257A>G (p.Lys86Arg) rs267607524
NM_002055.5(GFAP):c.259G>C (p.Val87Leu) rs267607518
NM_002055.5(GFAP):c.260T>G (p.Val87Gly) rs60449251
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.269T>C (p.Leu90Pro) rs59661476
NM_002055.5(GFAP):c.290T>C (p.Leu97Pro) rs59568967
NM_002055.5(GFAP):c.302T>C (p.Leu101Pro) rs267607516
NM_002055.5(GFAP):c.343G>T (p.Val115Phe) rs56746197
NM_002055.5(GFAP):c.382G>A (p.Asp128Asn) rs267607509
NM_002055.5(GFAP):c.523-76G>C rs267607668
NM_002055.5(GFAP):c.523-9C>G rs267607666
NM_002055.5(GFAP):c.613G>A (p.Glu205Lys) rs267607507
NM_002055.5(GFAP):c.619G>A (p.Glu207Lys) rs267607500
NM_002055.5(GFAP):c.619G>C (p.Glu207Gln) rs267607500
NM_002055.5(GFAP):c.628G>A (p.Glu210Lys) rs57661783
NM_002055.5(GFAP):c.704T>C (p.Leu235Pro) rs60269890
NM_002055.5(GFAP):c.707A>C (p.Lys236Thr) rs267607525
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>C (p.Arg239Pro) rs59565950
NM_002055.5(GFAP):c.716G>T (p.Arg239Leu) rs59565950
NM_002055.5(GFAP):c.724T>G (p.Tyr242Asp) rs60551555
NM_002055.5(GFAP):c.731C>T (p.Ala244Val) rs61497286
NM_002055.5(GFAP):c.739T>C (p.Ser247Pro) rs267607519
NM_002055.5(GFAP):c.758C>G (p.Ala253Gly) rs61726470
NM_002055.5(GFAP):c.770A>G (p.Tyr257Cys) rs267607505
NM_002055.5(GFAP):c.773G>C (p.Arg258Pro) rs61726468
NM_002055.5(GFAP):c.780+646G>A rs267607667
NM_002055.5(GFAP):c.827G>T (p.Arg276Leu) rs121909719
NM_002055.5(GFAP):c.835A>G (p.Lys279Glu) rs58536923
NM_002055.5(GFAP):c.988C>G (p.Arg330Gly) rs267607513
NM_002055.5(GFAP):c.992T>C (p.Leu331Pro) rs59985777
NM_002055.5(GFAP):c.994G>A (p.Glu332Lys) rs267607514

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