ClinVar Miner

List of variants studied for Alexander disease by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_002055.5(GFAP):c.667G>C (p.Glu223Gln)	rs56679084	0.00027
NM_002055.5(GFAP):c.1171+144T>C	rs560230868	0.00001
NM_002055.5(GFAP):c.1171+472G>C	rs748860341

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