ClinVar Miner

List of variants studied for Alexander disease by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_002055.5(GFAP):c.1127+5G>A	rs1057107808	0.00001
NM_002055.5(GFAP):c.1225G>A (p.Val409Met)	rs1485688823	0.00001

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