List of variants reported as pathogenic for Alexander disease by GeneReviews

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_002055.5(GFAP):c.667G>C (p.Glu223Gln)	rs56679084	0.00027
NM_002055.4(GFAP):c.[236G>A;667G>C]
NM_002055.4(GFAP):c.[988C>G;994G>A]
NM_002055.5(GFAP):c.1070T>C (p.Leu357Pro)	rs267607515
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.1171+475_1171+482delinsATC	rs797044592
NM_002055.5(GFAP):c.1193C>T (p.Ser398Phe)	rs267607508
NM_002055.5(GFAP):c.259G>A (p.Val87Ile)	rs267607518
NM_002055.5(GFAP):c.803C>A (p.Ala268Asp)	rs797044582
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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