ClinVar Miner

List of variants in gene ATP1A3 reported by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_152296.5(ATP1A3):c.1387C>T (p.Arg463Cys) rs150785666 0.00050
NM_152296.5(ATP1A3):c.124T>C (p.Cys42Arg) rs2075305399
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu) rs886041396
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
NM_152296.5(ATP1A3):c.2419-14C>T rs2075089174
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) rs387907281
NM_152296.5(ATP1A3):c.2835C>A (p.Ile945=) rs2075059472
NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg) rs398122887
NM_152296.5(ATP1A3):c.410C>T (p.Ser137Phe) rs542652468
NM_152296.5(ATP1A3):c.958G>C (p.Ala320Pro) rs879255368

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