List of variants in gene ATP1A3 reported as likely pathogenic for cerebellar degeneration

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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: 10

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HGVS	dbSNP	gnomAD frequency
NM_152296.5(ATP1A3):c.2116G>A (p.Gly706Arg)	rs782175860
NM_152296.5(ATP1A3):c.2224G>T (p.Asp742Tyr)	rs1135401822
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys)	rs1064797245
NM_152296.5(ATP1A3):c.2543G>C (p.Gly848Ala)	rs1599705281
NM_152296.5(ATP1A3):c.2552A>G (p.Gln851Arg)	rs2145946065
NM_152296.5(ATP1A3):c.265G>T (p.Gly89Cys)
NM_152296.5(ATP1A3):c.2839G>T (p.Gly947Trp)	rs398122887
NM_152296.5(ATP1A3):c.460A>G (p.Met154Val)	rs1135401821
NM_152296.5(ATP1A3):c.967C>T (p.Pro323Ser)	rs864309572
NM_152296.5(ATP1A3):c.974G>A (p.Gly325Asp)	rs863224847

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