ClinVar Miner

List of variants in gene ATP7B reported as uncertain significance by Illumina Clinical Services Laboratory,Illumina

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Gene type:
ClinVar version:
Total variants: 153
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HGVS dbSNP
NM_000053.4(ATP7B):c.*1005G>A
NM_000053.4(ATP7B):c.*1005G>T rs563813110
NM_000053.4(ATP7B):c.*1014A>G rs540878290
NM_000053.4(ATP7B):c.*1019A>G
NM_000053.4(ATP7B):c.*1036C>T rs533209080
NM_000053.4(ATP7B):c.*1076A>T rs564499990
NM_000053.4(ATP7B):c.*1095C>T rs886050300
NM_000053.4(ATP7B):c.*1104C>A
NM_000053.4(ATP7B):c.*111G>A rs546262455
NM_000053.4(ATP7B):c.*111G>T
NM_000053.4(ATP7B):c.*1124C>G
NM_000053.4(ATP7B):c.*1128G>A
NM_000053.4(ATP7B):c.*1170C>G
NM_000053.4(ATP7B):c.*1206G>A
NM_000053.4(ATP7B):c.*1240T>G
NM_000053.4(ATP7B):c.*1265A>G rs762692870
NM_000053.4(ATP7B):c.*1286G>A
NM_000053.4(ATP7B):c.*1385G>A rs41292780
NM_000053.4(ATP7B):c.*1409A>C rs537012324
NM_000053.4(ATP7B):c.*1423T>C
NM_000053.4(ATP7B):c.*148C>T rs111901413
NM_000053.4(ATP7B):c.*1491A>G rs139053981
NM_000053.4(ATP7B):c.*1493T>C rs886050299
NM_000053.4(ATP7B):c.*1499A>T rs567043686
NM_000053.4(ATP7B):c.*149G>A
NM_000053.4(ATP7B):c.*1558T>A rs886050298
NM_000053.4(ATP7B):c.*1592T>C rs886050297
NM_000053.4(ATP7B):c.*1618G>A
NM_000053.4(ATP7B):c.*1659A>G rs113688195
NM_000053.4(ATP7B):c.*16G>A rs193922100
NM_000053.4(ATP7B):c.*1746C>T
NM_000053.4(ATP7B):c.*1756T>C rs886050296
NM_000053.4(ATP7B):c.*1773C>G
NM_000053.4(ATP7B):c.*1782del rs886050295
NM_000053.4(ATP7B):c.*1805C>T rs182439700
NM_000053.4(ATP7B):c.*1901G>A rs886050294
NM_000053.4(ATP7B):c.*190C>T rs115420019
NM_000053.4(ATP7B):c.*221C>A rs886050305
NM_000053.4(ATP7B):c.*34G>A
NM_000053.4(ATP7B):c.*355G>A
NM_000053.4(ATP7B):c.*421C>T rs556584760
NM_000053.4(ATP7B):c.*510G>T rs886050304
NM_000053.4(ATP7B):c.*668C>A
NM_000053.4(ATP7B):c.*767T>A
NM_000053.4(ATP7B):c.*781T>C rs886050303
NM_000053.4(ATP7B):c.*786T>C rs886050302
NM_000053.4(ATP7B):c.*833A>T
NM_000053.4(ATP7B):c.*843C>T
NM_000053.4(ATP7B):c.*851T>C rs553202651
NM_000053.4(ATP7B):c.*870C>T rs532782366
NM_000053.4(ATP7B):c.*920G>A
NM_000053.4(ATP7B):c.*963C>T rs371788814
NM_000053.4(ATP7B):c.*994_*997del rs886050301
NM_000053.4(ATP7B):c.-73G>T rs886050309
NM_000053.4(ATP7B):c.-74C>T rs193922101
NM_000053.4(ATP7B):c.-91C>T
NM_000053.4(ATP7B):c.-97C>T rs886050310
NM_000053.4(ATP7B):c.1115C>T (p.Ser372Phe)
NM_000053.4(ATP7B):c.1122C>G (p.Val374=) rs201254466
NM_000053.4(ATP7B):c.1145C>G (p.Ser382Cys) rs774102085
NM_000053.4(ATP7B):c.1155A>C (p.Glu385Asp) rs1593787847
NM_000053.4(ATP7B):c.1158G>T (p.Gly386=) rs778775834
NM_000053.4(ATP7B):c.1172C>T (p.Ser391Leu) rs750724856
NM_000053.4(ATP7B):c.1216T>A (p.Ser406Thr)
NM_000053.4(ATP7B):c.1230A>G (p.Pro410=) rs772843652
NM_000053.4(ATP7B):c.1231G>A (p.Glu411Lys) rs886050308
NM_000053.4(ATP7B):c.1278C>T (p.Val426=) rs143556945
NM_000053.4(ATP7B):c.1298C>T (p.Thr433Ile)
NM_000053.4(ATP7B):c.1318A>G (p.Ser440Gly)
NM_000053.4(ATP7B):c.133G>A (p.Glu45Lys) rs777504965
NM_000053.4(ATP7B):c.1426G>A (p.Ala476Thr) rs139289704
NM_000053.4(ATP7B):c.1543+13C>T rs200171850
NM_000053.4(ATP7B):c.1543+14G>A rs770362811
NM_000053.4(ATP7B):c.1544-12T>C
NM_000053.4(ATP7B):c.1555G>A (p.Val519Met) rs192957846
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=) rs145798966
NM_000053.4(ATP7B):c.1829C>T (p.Pro610Leu) rs368381292
NM_000053.4(ATP7B):c.1834A>G (p.Ile612Val) rs886050307
NM_000053.4(ATP7B):c.1922T>C (p.Leu641Ser) rs186924074
NM_000053.4(ATP7B):c.1947-4C>T rs74904335
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val) rs146303208
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259
NM_000053.4(ATP7B):c.2190C>T (p.Asp730=) rs550565277
NM_000053.4(ATP7B):c.2236G>A (p.Val746Ile)
NM_000053.4(ATP7B):c.2286A>T (p.Thr762=) rs750477816
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=) rs398123136
NM_000053.4(ATP7B):c.2355+13T>G rs139211339
NM_000053.4(ATP7B):c.2366C>T (p.Ser789Leu)
NM_000053.4(ATP7B):c.2436T>C (p.Asn812=) rs533967323
NM_000053.4(ATP7B):c.2469G>C (p.Glu823Asp) rs886050306
NM_000053.4(ATP7B):c.2484C>T (p.Gly828=) rs570594838
NM_000053.4(ATP7B):c.2544C>T (p.Gly848=) rs200996053
NM_000053.4(ATP7B):c.2666A>G (p.His889Arg)
NM_000053.4(ATP7B):c.2681C>T (p.Thr894Ile) rs1340729837
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp) rs121907993
NM_000053.4(ATP7B):c.2763T>C (p.Ser921=)
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val) rs534960245
NM_000053.4(ATP7B):c.2921C>T (p.Thr974Met) rs201061621
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=) rs116587608
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782
NM_000053.4(ATP7B):c.2976C>A (p.Pro992=) rs746358240
NM_000053.4(ATP7B):c.2994C>T (p.Gly998=) rs373102009
NM_000053.4(ATP7B):c.2997C>T (p.Thr999=)
NM_000053.4(ATP7B):c.3069T>C (p.Thr1023=) rs187343742
NM_000053.4(ATP7B):c.3105C>T (p.Gly1035=) rs200324179
NM_000053.4(ATP7B):c.3114G>A (p.Arg1038=)
NM_000053.4(ATP7B):c.3151C>T (p.Leu1051=)
NM_000053.4(ATP7B):c.3160A>C (p.Arg1054=) rs377586515
NM_000053.4(ATP7B):c.325C>T (p.Leu109=) rs751920801
NM_000053.4(ATP7B):c.3275C>T (p.Thr1092Met) rs368545738
NM_000053.4(ATP7B):c.3332G>A (p.Gly1111Asp)
NM_000053.4(ATP7B):c.3368C>T (p.Pro1123Leu) rs146623472
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=) rs61733679
NM_000053.4(ATP7B):c.3376C>T (p.His1126Tyr)
NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=) rs370947152
NM_000053.4(ATP7B):c.3402C>T (p.Pro1134=) rs145887771
NM_000053.4(ATP7B):c.3422C>G (p.Pro1141Arg) rs757549770
NM_000053.4(ATP7B):c.3498T>C (p.Ser1166=) rs587783314
NM_000053.4(ATP7B):c.3557-6C>T rs140708492
NM_000053.4(ATP7B):c.3582C>T (p.Ile1194=) rs761183334
NM_000053.4(ATP7B):c.3583G>A (p.Ala1195Thr) rs202218969
NM_000053.4(ATP7B):c.3588C>T (p.Asp1196=) rs11840224
NM_000053.4(ATP7B):c.3625C>T (p.Leu1209=)
NM_000053.4(ATP7B):c.363C>T (p.Phe121=)
NM_000053.4(ATP7B):c.3671G>T (p.Arg1224Leu) rs532177115
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496
NM_000053.4(ATP7B):c.3859G>A (p.Gly1287Ser)
NM_000053.4(ATP7B):c.3874A>G (p.Ile1292Val)
NM_000053.4(ATP7B):c.3885C>T (p.Ala1295=) rs200597654
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn) rs199821556
NM_000053.4(ATP7B):c.3892G>A (p.Val1298Ile)
NM_000053.4(ATP7B):c.406A>G (p.Arg136Gly) rs557577836
NM_000053.4(ATP7B):c.4125-1G>A rs1293549383
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704
NM_000053.4(ATP7B):c.4166A>G (p.His1389Arg)
NM_000053.4(ATP7B):c.4185G>C (p.Leu1395=) rs368801566
NM_000053.4(ATP7B):c.4215C>T (p.Gly1405=) rs767721448
NM_000053.4(ATP7B):c.4251A>G (p.Thr1417=) rs546721020
NM_000053.4(ATP7B):c.4339dup (p.Asp1447fs) rs1345677703
NM_000053.4(ATP7B):c.445G>A (p.Val149Met) rs200606656
NM_000053.4(ATP7B):c.51+13C>T rs770273498
NM_000053.4(ATP7B):c.609C>T (p.Asp203=)
NM_000053.4(ATP7B):c.618T>A (p.Phe206Leu) rs764353593
NM_000053.4(ATP7B):c.664A>G (p.Ile222Val) rs200866801
NM_000053.4(ATP7B):c.670A>T (p.Ile224Phe) rs200563529
NM_000053.4(ATP7B):c.676C>T (p.Arg226Trp) rs749626601
NM_000053.4(ATP7B):c.740A>G (p.Glu247Gly) rs376398239
NM_000053.4(ATP7B):c.80G>A (p.Arg27His)
NM_000053.4(ATP7B):c.813C>T (p.Cys271=) rs572147914
NM_000053.4(ATP7B):c.925G>C (p.Val309Leu)
NM_000053.4(ATP7B):c.98T>C (p.Met33Thr) rs184868522
NM_001243182.1(ATP7B):c.-122G>A rs886050311

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