ClinVar Miner

List of variants studied for Alexander disease by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_002055.5(GFAP):c.621G>T (p.Glu207Asp) rs759844035
NM_002055.5(GFAP):c.646G>A (p.Ala216Thr)
NM_002055.5(GFAP):c.715C>T (p.Arg239Cys) rs58064122
NM_002055.5(GFAP):c.909C>G (p.Asn303Lys)

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