ClinVar Miner

List of variants in gene ATP1A2 reported as likely pathogenic

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Total variants: 89
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HGVS dbSNP gnomAD frequency
NM_000702.4(ATP1A2):c.2563+2T>C rs775008062 0.00003
NM_000702.4(ATP1A2):c.1811G>A (p.Arg604Gln) rs747238010 0.00002
NM_000702.4(ATP1A2):c.2876C>T (p.Thr959Met) rs1226796744 0.00002
NM_000702.4(ATP1A2):c.1042C>T (p.Arg348Cys) rs765818392 0.00001
NM_000702.4(ATP1A2):c.1148G>A (p.Arg383His) rs765909830 0.00001
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.1888A>C (p.Ile630Leu) rs1382260409 0.00001
NM_000702.4(ATP1A2):c.2152G>A (p.Asp718Asn) rs121918614 0.00001
NM_000702.4(ATP1A2):c.2827C>T (p.Gln943Ter) rs1651975273 0.00001
NM_000702.4(ATP1A2):c.857T>C (p.Ile286Thr) rs121918617 0.00001
NM_000702.4(ATP1A2):c.889G>A (p.Ala297Thr) rs181618883 0.00001
NM_000702.4(ATP1A2):c.1017+5G>A rs1085307953
NM_000702.4(ATP1A2):c.1021T>C (p.Cys341Arg) rs2524867724
NM_000702.4(ATP1A2):c.1022G>A (p.Cys341Tyr) rs1057521630
NM_000702.4(ATP1A2):c.1084G>A (p.Val362Met) rs2524867863
NM_000702.4(ATP1A2):c.1091C>T (p.Thr364Met) rs1553244881
NM_000702.4(ATP1A2):c.1096G>A (p.Gly366Ser) rs1553244883
NM_000702.4(ATP1A2):c.1103C>T (p.Thr368Met) rs746383817
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.1133C>T (p.Thr378Ile) rs28934002
NM_000702.4(ATP1A2):c.1135del (p.Leu379fs) rs1570988755
NM_000702.4(ATP1A2):c.1159G>A (p.Ala387Thr) rs2524868304
NM_000702.4(ATP1A2):c.117+1G>A rs1553244022
NM_000702.4(ATP1A2):c.12+1G>A rs1421966486
NM_000702.4(ATP1A2):c.12+2T>A rs2524837524
NM_000702.4(ATP1A2):c.1216+1G>A rs2524868404
NM_000702.4(ATP1A2):c.1477C>T (p.Arg493Ter) rs534696343
NM_000702.4(ATP1A2):c.1631del (p.Gly544fs) rs2524872645
NM_000702.4(ATP1A2):c.1631dup (p.Leu545fs)
NM_000702.4(ATP1A2):c.1652-1G>T rs2524873236
NM_000702.4(ATP1A2):c.177+2T>G
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.1817C>A (p.Ala606Glu) rs1553245183
NM_000702.4(ATP1A2):c.1843G>A (p.Gly615Arg) rs770053423
NM_000702.4(ATP1A2):c.1965-2A>G rs746362740
NM_000702.4(ATP1A2):c.2066G>A (p.Arg689Gln) rs28933401
NM_000702.4(ATP1A2):c.2070del (p.Ser691fs) rs2524886286
NM_000702.4(ATP1A2):c.2072C>T (p.Ser691Phe) rs2524886291
NM_000702.4(ATP1A2):c.2102del (p.Gly701fs) rs1064794725
NM_000702.4(ATP1A2):c.2105_2106del (p.Cys702fs) rs1558008455
NM_000702.4(ATP1A2):c.2135C>T (p.Thr712Met) rs1651907319
NM_000702.4(ATP1A2):c.2192T>C (p.Met731Thr) rs28933400
NM_000702.4(ATP1A2):c.2284+1G>A rs2524887627
NM_000702.4(ATP1A2):c.2284G>A (p.Gly762Ser) rs1553245780
NM_000702.4(ATP1A2):c.2285-1G>A rs2524888314
NM_000702.4(ATP1A2):c.2288G>A (p.Arg763His) rs1403515889
NM_000702.4(ATP1A2):c.2288G>T (p.Arg763Leu) rs1403515889
NM_000702.4(ATP1A2):c.2323T>G (p.Tyr775Asp) rs2101995474
NM_000702.4(ATP1A2):c.2336G>A (p.Ser779Asn) rs2101995480
NM_000702.4(ATP1A2):c.2387C>G (p.Pro796Arg) rs1651922528
NM_000702.4(ATP1A2):c.2424C>G (p.Asp808Glu) rs1570994712
NM_000702.4(ATP1A2):c.2434G>C (p.Asp812His) rs1558008759
NM_000702.4(ATP1A2):c.2438T>A (p.Met813Lys) rs796052277
NM_000702.4(ATP1A2):c.2444C>G (p.Pro815Arg)
NM_000702.4(ATP1A2):c.2485A>G (p.Met829Val) rs2101995847
NM_000702.4(ATP1A2):c.2486T>C (p.Met829Thr) rs1570995017
NM_000702.4(ATP1A2):c.2501G>T (p.Arg834Leu) rs2101995864
NM_000702.4(ATP1A2):c.2552A>G (p.Tyr851Cys) rs2524889994
NM_000702.4(ATP1A2):c.2564G>A (p.Gly855Glu) rs149144720
NM_000702.4(ATP1A2):c.2620G>A (p.Gly874Ser) rs1651959213
NM_000702.4(ATP1A2):c.262del (p.Val88fs) rs2524854159
NM_000702.4(ATP1A2):c.2698G>A (p.Gly900Arg) rs1553245908
NM_000702.4(ATP1A2):c.2723G>A (p.Arg908Gln) rs2101996488
NM_000702.4(ATP1A2):c.2776G>T (p.Val926Leu) rs1651973884
NM_000702.4(ATP1A2):c.2809C>T (p.Arg937Cys) rs1558009266
NM_000702.4(ATP1A2):c.2809del (p.Arg937fs) rs1651974671
NM_000702.4(ATP1A2):c.2810G>A (p.Arg937His) rs1553245943
NM_000702.4(ATP1A2):c.2935_2936delinsAA (p.Pro979Lys)
NM_000702.4(ATP1A2):c.3005G>A (p.Arg1002Gln) rs757310141
NM_000702.4(ATP1A2):c.3020G>A (p.Arg1007Gln) rs754878991
NM_000702.4(ATP1A2):c.3027T>A (p.Tyr1009Ter) rs1570998206
NM_000702.4(ATP1A2):c.3061T>C (p.Ter1021Arg) rs2524903070
NM_000702.4(ATP1A2):c.3062del (p.Ter1021TyrextTer?) rs2102000044
NM_000702.4(ATP1A2):c.381+1G>A rs2101985522
NM_000702.4(ATP1A2):c.414_434delinsACCAGGAGGCCAAGAG (p.Ile139fs)
NM_000702.4(ATP1A2):c.495+2T>C rs2524856473
NM_000702.4(ATP1A2):c.788C>T (p.Thr263Met) rs777400961
NM_000702.4(ATP1A2):c.835del (p.Arg279fs) rs1558005340
NM_000702.4(ATP1A2):c.848C>T (p.Ala283Val) rs1553244740
NM_000702.4(ATP1A2):c.869_872del (p.Ile290fs) rs761168835
NM_000702.4(ATP1A2):c.882_897del (p.Gly295fs) rs1064796771
NM_000702.4(ATP1A2):c.902G>A (p.Gly301Glu) rs2524865450
NM_000702.4(ATP1A2):c.910TTC[1] (p.Phe305del) rs2524865483
NM_000702.4(ATP1A2):c.959T>A (p.Ile320Asn)
NM_000702.4(ATP1A2):c.970G>A (p.Gly324Ser) rs1570987954
NM_000702.4(ATP1A2):c.988G>A (p.Val330Met) rs1236883845

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