ClinVar Miner

List of variants reported as pathogenic for Alexander disease by Mendelics

Included ClinVar conditions (1):

Alexander disease

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_002055.5(GFAP):c.1087A>G (p.Ile363Val)	rs2145632673
NM_002055.5(GFAP):c.208C>T (p.Arg70Trp)	rs60343255
NM_002055.5(GFAP):c.218T>C (p.Met73Thr)	rs61060395

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