ClinVar Miner

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

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Gene type:
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Total variants: 4
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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.2419-14C>T rs2075089174
NM_152296.5(ATP1A3):c.2835C>A (p.Ile945=) rs2075059472

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