ClinVar Miner

List of variants in gene ATP1A3 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_152296.5(ATP1A3):c.2489G>A (p.Arg830Gln) rs368371895 0.00010
NM_152296.5(ATP1A3):c.1296G>T (p.Val432=) rs781928217 0.00002
NM_152296.5(ATP1A3):c.56G>A (p.Arg19His) rs782596240 0.00002
NM_152296.5(ATP1A3):c.6+644G>A rs1363862715 0.00002
NM_152296.5(ATP1A3):c.128G>A (p.Arg43Gln) rs782453913 0.00001
NM_152296.5(ATP1A3):c.1472A>G (p.Asn491Ser) rs782775696 0.00001
NM_152296.5(ATP1A3):c.153+7C>T rs782082118 0.00001
NM_152296.5(ATP1A3):c.7-2A>C rs1555866356 0.00001
NM_152296.5(ATP1A3):c.7-43G>A rs782597250 0.00001
NM_152296.5(ATP1A3):c.1303-5T>G rs782123500
NM_152296.5(ATP1A3):c.1359C>T (p.Ser453=) rs1555863345
NM_152296.5(ATP1A3):c.1381C>T (p.Arg461Cys)
NM_152296.5(ATP1A3):c.1449T>G (p.His483Gln)
NM_152296.5(ATP1A3):c.1620G>A (p.Glu540=) rs1599715899
NM_152296.5(ATP1A3):c.1643A>G (p.Tyr548Cys) rs1555862164
NM_152296.5(ATP1A3):c.1652C>A (p.Pro551His) rs2145965138
NM_152296.5(ATP1A3):c.1709C>T (p.Thr570Met) rs2075193100
NM_152296.5(ATP1A3):c.1713C>A (p.Asp571Glu) rs1555862129
NM_152296.5(ATP1A3):c.1795G>A (p.Ala599Thr) rs1057519113
NM_152296.5(ATP1A3):c.1932G>A (p.Gln644=) rs1599715062
NM_152296.5(ATP1A3):c.1943G>A (p.Arg648Gln) rs2075189226
NM_152296.5(ATP1A3):c.2543-6T>A rs1599705282
NM_152296.5(ATP1A3):c.2555C>G (p.Ala852Gly) rs2075080038
NM_152296.5(ATP1A3):c.2788C>T (p.Arg930Trp) rs1555859150
NM_152296.5(ATP1A3):c.569C>T (p.Pro190Leu) rs1599723609
NM_152296.5(ATP1A3):c.56G>C (p.Arg19Pro)

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