List of variants in gene GFAP reported as pathogenic by OMIM

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_002055.5(GFAP):c.1055T>C (p.Leu352Pro)	rs28932769
NM_002055.5(GFAP):c.1246C>T (p.Arg416Trp)	rs121909717
NM_002055.5(GFAP):c.226C>T (p.Leu76Phe)	rs57120761
NM_002055.5(GFAP):c.229A>T (p.Asn77Tyr)	rs58732244
NM_002055.5(GFAP):c.234C>A (p.Asp78Glu)	rs121909720
NM_002055.5(GFAP):c.235C>T (p.Arg79Cys)	rs59793293
NM_002055.5(GFAP):c.236G>A (p.Arg79His)	rs59285727
NM_002055.5(GFAP):c.262C>A (p.Arg88Ser)	rs61622935
NM_002055.5(GFAP):c.262C>T (p.Arg88Cys)	rs61622935
NM_002055.5(GFAP):c.715C>T (p.Arg239Cys)	rs58064122
NM_002055.5(GFAP):c.716G>A (p.Arg239His)	rs59565950
NM_002055.5(GFAP):c.827G>T (p.Arg276Leu)	rs121909719

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