List of variants in gene ATP1A3 reported as pathogenic for cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

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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.2401G>A (p.Asp801Asn)
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys)	rs387907281
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys)	rs587777771
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn)	rs267606670
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg)	rs398122887

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