ClinVar Miner

List of variants in gene GFAP reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_002055.5(GFAP):c.376C>T (p.Arg126Trp) rs201959936 0.00003
NM_002055.5(GFAP):c.1154C>G (p.Ser385Cys) rs797044590 0.00001
NM_002055.5(GFAP):c.1182G>A (p.Leu394=) rs757760536 0.00001
NM_002055.5(GFAP):c.403G>A (p.Ala135Thr) rs544232705 0.00001
NM_002055.5(GFAP):c.428A>G (p.Asn143Ser) rs529014360 0.00001
NM_002055.5(GFAP):c.495C>T (p.Ala165=) rs1306438057 0.00001
NM_002055.5(GFAP):c.930G>A (p.Met310Ile) rs755602073 0.00001
NM_002055.5(GFAP):c.145C>T (p.Arg49Trp) rs771283454
NM_002055.5(GFAP):c.586G>T (p.Glu196Ter) rs199715194
NM_002055.5(GFAP):c.613G>A (p.Glu205Lys) rs267607507
NM_002055.5(GFAP):c.715C>T (p.Arg239Cys) rs58064122
NM_002055.5(GFAP):c.817G>T (p.Glu273Ter) rs2051775742
NM_002055.5(GFAP):c.934G>A (p.Glu312Lys) rs763868966
NM_002055.5(GFAP):c.951C>T (p.His317=)

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