ClinVar Miner

List of variants in gene GFAP reported as likely benign for not provided

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Gene type:
ClinVar version:
Total variants: 95
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HGVS dbSNP gnomAD frequency
NM_002055.5(GFAP):c.619-96G>T rs62065770 0.02663
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.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.130C>G (p.Pro44Ala) rs144543354 0.00040
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.676G>A (p.Val226Met) rs149883728 0.00020
NM_002055.5(GFAP):c.381C>T (p.Leu127=) rs138320302 0.00015
NM_002055.5(GFAP):c.43G>A (p.Val15Ile) rs146698039 0.00014
NM_002055.5(GFAP):c.1140C>T (p.Pro380=) rs267607527 0.00010
NM_002055.5(GFAP):c.1171+474G>A rs370385098 0.00006
NM_002055.5(GFAP):c.1003G>A (p.Gly335Arg) rs149353780 0.00005
NM_002055.5(GFAP):c.252C>T (p.Ile84=) rs571151302 0.00005
NM_002055.5(GFAP):c.1171+359C>G rs369451032 0.00004
NM_002055.5(GFAP):c.159C>T (p.Ser53=) rs201451094 0.00004
NM_002055.5(GFAP):c.522+12G>A rs570491117 0.00004
NM_002055.5(GFAP):c.1258-19C>T rs761082086 0.00003
NM_002055.5(GFAP):c.288G>A (p.Ala96=) rs779815330 0.00003
NM_002055.5(GFAP):c.734T>C (p.Met245Thr) rs151327900 0.00003
NM_002055.5(GFAP):c.759C>T (p.Ala253=) rs190972724 0.00002
NM_002055.5(GFAP):c.144C>A (p.Thr48=) rs777184301 0.00001
NM_002055.5(GFAP):c.336G>A (p.Leu112=) rs753939780 0.00001
NM_002055.5(GFAP):c.370C>A (p.Arg124=) rs780877810 0.00001
NM_002055.5(GFAP):c.495C>T (p.Ala165=) rs1306438057 0.00001
NM_002055.5(GFAP):c.687A>G (p.Pro229=) rs1225139999 0.00001
NM_002055.5(GFAP):c.906+3G>A rs200366454 0.00001
NM_002055.5(GFAP):c.906+6C>T rs1279879602 0.00001
NM_002055.5(GFAP):c.948G>A (p.Arg316=) rs771505686 0.00001
NM_002055.5(GFAP):c.-1G>A
NM_002055.5(GFAP):c.1047C>T (p.Tyr349=)
NM_002055.5(GFAP):c.1167T>C (p.Ile389=)
NM_002055.5(GFAP):c.1171+143C>T
NM_002055.5(GFAP):c.1171+16C>T
NM_002055.5(GFAP):c.1171+19C>A
NM_002055.5(GFAP):c.1171+20G>A
NM_002055.5(GFAP):c.1171+20G>C
NM_002055.5(GFAP):c.1171+366A>G
NM_002055.5(GFAP):c.1171+374C>T
NM_002055.5(GFAP):c.1171+375G>A
NM_002055.5(GFAP):c.1171+396A>G
NM_002055.5(GFAP):c.1171+449T>C
NM_002055.5(GFAP):c.1171+450G>A
NM_002055.5(GFAP):c.1171+467G>T
NM_002055.5(GFAP):c.1171+471C>A
NM_002055.5(GFAP):c.1171+472G>C rs748860341
NM_002055.5(GFAP):c.1172-16C>G
NM_002055.5(GFAP):c.1182G>A (p.Leu394=)
NM_002055.5(GFAP):c.1236C>A (p.Thr412=) rs146298944
NM_002055.5(GFAP):c.1236C>T (p.Thr412=)
NM_002055.5(GFAP):c.1258-9C>A
NM_002055.5(GFAP):c.129C>T (p.Pro43=)
NM_002055.5(GFAP):c.231T>C (p.Asn77=) rs149404477
NM_002055.5(GFAP):c.264C>T (p.Arg88=)
NM_002055.5(GFAP):c.342C>T (p.Asp114=)
NM_002055.5(GFAP):c.388C>G (p.Leu130Val)
NM_002055.5(GFAP):c.462-11C>T rs184208563
NM_002055.5(GFAP):c.462-295TG[10] rs764855112
NM_002055.5(GFAP):c.462-8C>A rs371492346
NM_002055.5(GFAP):c.462-8C>G rs371492346
NM_002055.5(GFAP):c.462-8dup rs572562362
NM_002055.5(GFAP):c.468G>A (p.Gln156=) rs2145639481
NM_002055.5(GFAP):c.516T>C (p.Tyr172=)
NM_002055.5(GFAP):c.522+15G>A
NM_002055.5(GFAP):c.522+19A>T rs1463280530
NM_002055.5(GFAP):c.522+9G>A
NM_002055.5(GFAP):c.531T>C (p.Asp177=) rs2145638740
NM_002055.5(GFAP):c.546C>G (p.Ala182=) rs1190065571
NM_002055.5(GFAP):c.576G>A (p.Ser192=)
NM_002055.5(GFAP):c.618+15G>C
NM_002055.5(GFAP):c.618+18G>A rs776325339
NM_002055.5(GFAP):c.618+18G>C
NM_002055.5(GFAP):c.619-14C>G
NM_002055.5(GFAP):c.696C>T (p.Thr232=)
NM_002055.5(GFAP):c.69G>C (p.Gly23=)
NM_002055.5(GFAP):c.73C>T (p.Leu25=)
NM_002055.5(GFAP):c.76G>A (p.Ala26Thr)
NM_002055.5(GFAP):c.846C>G (p.Ala282=)
NM_002055.5(GFAP):c.852C>T (p.Asp284=)
NM_002055.5(GFAP):c.867G>A (p.Leu289=)
NM_002055.5(GFAP):c.906+9G>A rs372000966
NM_002055.5(GFAP):c.907-18dup
NM_002055.5(GFAP):c.921G>A (p.Glu307=) rs953909210
NM_002055.5(GFAP):c.947G>A (p.Arg316Gln) rs140004406
NM_002055.5(GFAP):c.954G>A (p.Val318=)
NM_002055.5(GFAP):c.972T>C (p.Tyr324=)
NM_002055.5(GFAP):c.993G>T (p.Leu331=) rs2051759472

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