ClinVar Miner

List of variants in gene ATP1A3 reported as likely pathogenic by GeneDx

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_152296.5(ATP1A3):c.1004C>T (p.Thr335Met) rs1131691940 0.00001
NM_152296.5(ATP1A3):c.1072G>C (p.Gly358Arg) rs606231432
NM_152296.5(ATP1A3):c.2029G>A (p.Glu677Lys)
NM_152296.5(ATP1A3):c.2146AAG[1] (p.Lys717del) rs1064795403
NM_152296.5(ATP1A3):c.2191G>A (p.Val731Ile) rs1131691813
NM_152296.5(ATP1A3):c.2315G>A (p.Ser772Asn) rs1064795234
NM_152296.5(ATP1A3):c.2328G>C (p.Glu776Asp) rs1085307992
NM_152296.5(ATP1A3):c.2552A>G (p.Gln851Arg) rs2145946065
NM_152296.5(ATP1A3):c.2567TCT[1] (p.Phe857del) rs2145945980
NM_152296.5(ATP1A3):c.265G>A (p.Gly89Ser) rs1057522886
NM_152296.5(ATP1A3):c.385G>A (p.Val129Met) rs1555865401
NM_152296.5(ATP1A3):c.410_412del (p.Ser137del) rs1555865385
NM_152296.5(ATP1A3):c.977T>G (p.Leu326Arg) rs1131691307

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