ClinVar Miner

List of variants in gene ATP1A2 reported as pathogenic by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_000702.4(ATP1A2):c.1234C>T (p.Arg412Ter) rs760155608 0.00001
NM_000702.4(ATP1A2):c.1261C>T (p.Arg421Ter) rs1165052640 0.00001
NM_000702.4(ATP1A2):c.2152G>A (p.Asp718Asn) rs121918614 0.00001
NM_000702.4(ATP1A2):c.889G>A (p.Ala297Thr) rs181618883 0.00001
NM_000702.4(ATP1A2):c.1097G>T (p.Gly366Val) rs1057518514
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.1130G>T (p.Gly377Val) rs2524868153
NM_000702.4(ATP1A2):c.1133C>A (p.Thr378Asn) rs28934002
NM_000702.4(ATP1A2):c.1133C>T (p.Thr378Ile) rs28934002
NM_000702.4(ATP1A2):c.1405A>T (p.Arg469Ter) rs2524869946
NM_000702.4(ATP1A2):c.1453A>T (p.Lys485Ter) rs2101989829
NM_000702.4(ATP1A2):c.1477C>T (p.Arg493Ter) rs534696343
NM_000702.4(ATP1A2):c.1570G>T (p.Glu524Ter) rs1651727299
NM_000702.4(ATP1A2):c.1639del (p.Glu547fs) rs1651730901
NM_000702.4(ATP1A2):c.1642C>T (p.Arg548Cys) rs1651731153
NM_000702.4(ATP1A2):c.1643G>A (p.Arg548His) rs121918616
NM_000702.4(ATP1A2):c.1743C>A (p.Cys581Ter) rs1570990484
NM_000702.4(ATP1A2):c.1777C>T (p.Arg593Trp) rs886039530
NM_000702.4(ATP1A2):c.1778G>T (p.Arg593Leu) rs1553245178
NM_000702.4(ATP1A2):c.1810C>T (p.Arg604Ter) rs1469902667
NM_000702.4(ATP1A2):c.1816G>A (p.Ala606Thr) rs1414742926
NM_000702.4(ATP1A2):c.1843G>A (p.Gly615Arg) rs770053423
NM_000702.4(ATP1A2):c.1882G>A (p.Val628Met) rs1553245659
NM_000702.4(ATP1A2):c.188del (p.Asn63fs) rs1651475047
NM_000702.4(ATP1A2):c.2105_2106del (p.Cys702fs) rs1558008455
NM_000702.4(ATP1A2):c.2126_2127del (p.Val709fs) rs2524887082
NM_000702.4(ATP1A2):c.2143G>A (p.Gly715Arg) rs1553245771
NM_000702.4(ATP1A2):c.2357C>T (p.Pro786Leu) rs1209724722
NM_000702.4(ATP1A2):c.2432C>G (p.Thr811Arg) rs2524888699
NM_000702.4(ATP1A2):c.2471dup (p.Ala824_Glu825insTer) rs1651944837
NM_000702.4(ATP1A2):c.2500C>T (p.Arg834Ter) rs755310507
NM_000702.4(ATP1A2):c.2501G>A (p.Arg834Gln) rs2101995864
NM_000702.4(ATP1A2):c.2515del (p.Asp839fs)
NM_000702.4(ATP1A2):c.2563G>A (p.Gly855Arg) rs1553245857
NM_000702.4(ATP1A2):c.2708G>A (p.Trp903Ter) rs2524891325
NM_000702.4(ATP1A2):c.2936C>T (p.Pro979Leu) rs121918615
NM_000702.4(ATP1A2):c.2977CTC[1] (p.Leu994del) rs2524899114
NM_000702.4(ATP1A2):c.2983dup (p.Ile995fs) rs2524899135
NM_000702.4(ATP1A2):c.3005G>A (p.Arg1002Gln) rs757310141
NM_000702.4(ATP1A2):c.3019C>T (p.Arg1007Trp) rs746795369
NM_000702.4(ATP1A2):c.3027T>A (p.Tyr1009Ter) rs1570998206
NM_000702.4(ATP1A2):c.855dup (p.Ile286fs) rs2101988410
NM_000702.4(ATP1A2):c.869_872del (p.Ile290fs) rs761168835
NM_000702.4(ATP1A2):c.901G>A (p.Gly301Arg) rs121918612
NM_000702.4(ATP1A2):c.953C>A (p.Ala318Glu) rs2101988461
NM_000702.4(ATP1A2):c.970G>A (p.Gly324Ser) rs1570987954
NM_000702.4(ATP1A2):c.988G>A (p.Val330Met) rs1236883845
NM_000702.4(ATP1A2):c.991C>G (p.Pro331Ala) rs2524865640

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