List of variants reported as pathogenic for Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys)	rs1064797245
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His)	rs606231435
NM_152296.5(ATP1A3):c.2312C>T (p.Thr771Ile)	rs557939077
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys)	rs587777771

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