List of variants studied for Alexander disease by Mendelics

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_002055.5(GFAP):c.140C>T (p.Pro47Leu)	rs57474185	0.00543
NM_002055.5(GFAP):c.667G>C (p.Glu223Gln)	rs56679084	0.00027
NM_002055.5(GFAP):c.1087A>G (p.Ile363Val)	rs2145632673
NM_002055.5(GFAP):c.1235C>T (p.Thr412Ile)	rs1597853099
NM_002055.5(GFAP):c.208C>T (p.Arg70Trp)	rs60343255
NM_002055.5(GFAP):c.218T>C (p.Met73Thr)	rs61060395

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