ClinVar Miner

List of variants in gene ATP1A2 reported as pathogenic

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Total variants: 29
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HGVS dbSNP
NM_000702.4(ATP1A2):c.1033A>G (p.Thr345Ala) rs121918613
NM_000702.4(ATP1A2):c.1127C>G (p.Thr376Arg) rs121918620
NM_000702.4(ATP1A2):c.1127C>T (p.Thr376Met) rs121918620
NM_000702.4(ATP1A2):c.1133C>A (p.Thr378Asn) rs28934002
NM_000702.4(ATP1A2):c.1244C>T (p.Thr415Met) rs121918618
NM_000702.4(ATP1A2):c.1261C>T (p.Arg421Ter) rs1165052640
NM_000702.4(ATP1A2):c.1643G>A (p.Arg548His) rs121918616
NM_000702.4(ATP1A2):c.1743C>A (p.Cys581Ter)
NM_000702.4(ATP1A2):c.1777C>T (p.Arg593Trp) rs886039530
NM_000702.4(ATP1A2):c.1778G>A (p.Arg593Gln) rs1553245178
NM_000702.4(ATP1A2):c.1816G>A (p.Ala606Thr) rs1414742926
NM_000702.4(ATP1A2):c.1882G>A (p.Val628Met) rs1553245659
NM_000702.4(ATP1A2):c.193C>T (p.Arg65Trp) rs121918619
NM_000702.4(ATP1A2):c.2066G>A (p.Arg689Gln) rs28933401
NM_000702.4(ATP1A2):c.2143G>A (p.Gly715Arg) rs1553245771
NM_000702.4(ATP1A2):c.2152G>A (p.Asp718Asn) rs121918614
NM_000702.4(ATP1A2):c.2192T>C (p.Met731Thr) rs28933400
NM_000702.4(ATP1A2):c.2291T>C (p.Leu764Pro) rs28933398
NM_000702.4(ATP1A2):c.2500C>T (p.Arg834Ter) rs755310507
NM_000702.4(ATP1A2):c.2563G>A (p.Gly855Arg) rs1553245857
NM_000702.4(ATP1A2):c.2659T>C (p.Trp887Arg) rs28933399
NM_000702.4(ATP1A2):c.2869G>T (p.Glu957Ter) rs1558010146
NM_000702.4(ATP1A2):c.2936C>T (p.Pro979Leu) rs121918615
NM_000702.4(ATP1A2):c.293_294TC[3] (p.Ile100fs) rs1558003446
NM_000702.4(ATP1A2):c.571G>A (p.Val191Met) rs869025341
NM_000702.4(ATP1A2):c.788C>T (p.Thr263Met)
NM_000702.4(ATP1A2):c.857T>C (p.Ile286Thr) rs121918617
NM_000702.4(ATP1A2):c.879C>G (p.Ile293Met) rs1553244746
NM_000702.4(ATP1A2):c.901G>A (p.Gly301Arg) rs121918612

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