List of variants in gene combination GFAP, LOC130060994 reported as pathogenic for Alexander disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
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.1087A>G (p.Ile363Val)	rs2145632673
NM_002055.5(GFAP):c.1111G>A (p.Glu371Lys)	rs267607526

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