List of variants in gene GFAP reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_002055.5(GFAP):c.262C>T (p.Arg88Cys)	rs61622935	0.00001
NM_002055.5(GFAP):c.208C>T (p.Arg70Trp)	rs60343255
NM_002055.5(GFAP):c.226C>T (p.Leu76Phe)	rs57120761
NM_002055.5(GFAP):c.236G>A (p.Arg79His)	rs59285727
NM_002055.5(GFAP):c.716G>A (p.Arg239His)	rs59565950

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