ClinVar Miner

List of variants in gene GFAP, LOC130060994 studied for Alexander disease

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_002055.5(GFAP):c.1070T>C (p.Leu357Pro) rs267607515
NM_002055.5(GFAP):c.1073C>T (p.Ala358Val) rs797044586
NM_002055.5(GFAP):c.1074C>G (p.Ala358=) rs797044587
NM_002055.5(GFAP):c.1075C>G (p.Leu359Val) rs60825166
NM_002055.5(GFAP):c.1076T>C (p.Leu359Pro) rs267607511
NM_002055.5(GFAP):c.1079A>T (p.Asp360Val) rs62636501
NM_002055.5(GFAP):c.1085A>G (p.Glu362Gly) rs797044588
NM_002055.5(GFAP):c.1086G>C (p.Glu362Asp) rs121909718
NM_002055.5(GFAP):c.1087A>G (p.Ile363Val) rs2145632673
NM_002055.5(GFAP):c.1090G>A (p.Ala364Thr) rs58645997
NM_002055.5(GFAP):c.1090G>C (p.Ala364Pro) rs58645997
NM_002055.5(GFAP):c.1091C>T (p.Ala364Val) rs267607503
NM_002055.5(GFAP):c.1096T>C (p.Tyr366His) rs58008462
NM_002055.5(GFAP):c.1097A>G (p.Tyr366Cys) rs267607502
NM_002055.5(GFAP):c.1111G>A (p.Glu371Lys) rs267607526
NM_002055.5(GFAP):c.1111G>C (p.Glu371Gln) rs267607526
NM_002055.5(GFAP):c.1112A>G (p.Glu371Gly) rs57815192
NM_002055.5(GFAP):c.1112A>T (p.Glu371Val) rs57815192
NM_002055.5(GFAP):c.1117G>A (p.Glu373Lys) rs58075601
NM_002055.5(GFAP):c.1117G>C (p.Glu373Gln) rs58075601
NM_002055.5(GFAP):c.1118A>C (p.Glu373Ala) rs797044589
NM_002055.5(GFAP):c.1121A>G (p.Glu374Gly) rs59628143
NM_002055.5(GFAP):c.1125C>G (p.Asn375Lys) rs1567773470
NM_002055.5(GFAP):c.1126C>T (p.Arg376Trp) rs267607512
NM_002055.5(GFAP):c.1127+5G>A

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