ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 98
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HGVS dbSNP
NM_000053.3(ATP7B):c.*1005G>T rs563813110
NM_000053.3(ATP7B):c.*1009G>A rs79747858
NM_000053.3(ATP7B):c.*1014A>G rs540878290
NM_000053.3(ATP7B):c.*1036C>T rs533209080
NM_000053.3(ATP7B):c.*1076A>T rs564499990
NM_000053.3(ATP7B):c.*1095C>T rs886050300
NM_000053.3(ATP7B):c.*111G>A rs546262455
NM_000053.3(ATP7B):c.*1172G>A rs1051332
NM_000053.3(ATP7B):c.*1182C>T rs79490882
NM_000053.3(ATP7B):c.*1265A>G rs762692870
NM_000053.3(ATP7B):c.*1385G>A rs41292780
NM_000053.3(ATP7B):c.*1409A>C rs537012324
NM_000053.3(ATP7B):c.*148C>T rs111901413
NM_000053.3(ATP7B):c.*1491A>G rs139053981
NM_000053.3(ATP7B):c.*1493T>C rs886050299
NM_000053.3(ATP7B):c.*1499A>T rs567043686
NM_000053.3(ATP7B):c.*1558T>A rs886050298
NM_000053.3(ATP7B):c.*1592T>C rs886050297
NM_000053.3(ATP7B):c.*15C>T rs73498144
NM_000053.3(ATP7B):c.*1659A>G rs113688195
NM_000053.3(ATP7B):c.*16G>A rs193922100
NM_000053.3(ATP7B):c.*1708A>G rs17076111
NM_000053.3(ATP7B):c.*1717G>T rs77770386
NM_000053.3(ATP7B):c.*1756T>C rs886050296
NM_000053.3(ATP7B):c.*1782C>G rs928169
NM_000053.3(ATP7B):c.*1782delC rs886050295
NM_000053.3(ATP7B):c.*1805C>T rs182439700
NM_000053.3(ATP7B):c.*1901G>A rs886050294
NM_000053.3(ATP7B):c.*190C>A rs115420019
NM_000053.3(ATP7B):c.*190C>T rs115420019
NM_000053.3(ATP7B):c.*221C>A rs886050305
NM_000053.3(ATP7B):c.*421C>T rs556584760
NM_000053.3(ATP7B):c.*510G>T rs886050304
NM_000053.3(ATP7B):c.*781T>C rs886050303
NM_000053.3(ATP7B):c.*786T>C rs886050302
NM_000053.3(ATP7B):c.*851T>C rs553202651
NM_000053.3(ATP7B):c.*870C>T rs532782366
NM_000053.3(ATP7B):c.*963C>T rs371788814
NM_000053.3(ATP7B):c.*994_*997delACTG rs886050301
NM_000053.3(ATP7B):c.-122G>A rs886050311
NM_000053.3(ATP7B):c.-54G>T rs115564351
NM_000053.3(ATP7B):c.-73G>T rs886050309
NM_000053.3(ATP7B):c.-74C>T rs193922101
NM_000053.3(ATP7B):c.-97C>T rs886050310
NM_000053.3(ATP7B):c.1122C>G (p.Val374=) rs201254466
NM_000053.3(ATP7B):c.1172C>T (p.Ser391Leu) rs750724856
NM_000053.3(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243
NM_000053.3(ATP7B):c.122A>G (p.Asn41Ser) rs201738967
NM_000053.3(ATP7B):c.1230A>G (p.Pro410=) rs772843652
NM_000053.3(ATP7B):c.1231G>A (p.Glu411Lys) rs886050308
NM_000053.3(ATP7B):c.1278C>T (p.Val426=) rs143556945
NM_000053.3(ATP7B):c.133G>A (p.Glu45Lys) rs777504965
NM_000053.3(ATP7B):c.1366G>C (p.Val456Leu) rs1801244
NM_000053.3(ATP7B):c.1543+13C>T rs200171850
NM_000053.3(ATP7B):c.1543+14G>A rs770362811
NM_000053.3(ATP7B):c.1834A>G (p.Ile612Val) rs886050307
NM_000053.3(ATP7B):c.1934T>G (p.Met645Arg) rs121907998
NM_000053.3(ATP7B):c.1995G>A (p.Met665Ile) rs72552259
NM_000053.3(ATP7B):c.2333G>T (p.Arg778Leu) rs28942074
NM_000053.3(ATP7B):c.2469G>C (p.Glu823Asp) rs886050306
NM_000053.3(ATP7B):c.2495A>G (p.Lys832Arg) rs1061472
NM_000053.3(ATP7B):c.2544C>T (p.Gly848=) rs200996053
NM_000053.3(ATP7B):c.2755C>T (p.Arg919Trp) rs121907993
NM_000053.3(ATP7B):c.2855G>A (p.Arg952Lys) rs732774
NM_000053.3(ATP7B):c.2866-13G>C rs7325983
NM_000053.3(ATP7B):c.2973G>A (p.Thr991=) rs1801246
NM_000053.3(ATP7B):c.3009G>A (p.Ala1003=) rs1801247
NM_000053.3(ATP7B):c.3045G>A (p.Leu1015=) rs1801248
NM_000053.3(ATP7B):c.3105C>T (p.Gly1035=) rs200324179
NM_000053.3(ATP7B):c.3121C>T (p.Arg1041Trp) rs746485916
NM_000053.3(ATP7B):c.3182G>A (p.Gly1061Glu) rs764131178
NM_000053.3(ATP7B):c.3191A>C (p.Glu1064Ala) rs374094065
NM_000053.3(ATP7B):c.3275C>T (p.Thr1092Met) rs368545738
NM_000053.3(ATP7B):c.3316G>A (p.Val1106Ile) rs541208827
NM_000053.3(ATP7B):c.3369G>A (p.Pro1123=) rs61733679
NM_000053.3(ATP7B):c.3396C>T (p.Ser1132=) rs370947152
NM_000053.3(ATP7B):c.3402delC (p.Ala1135Glnfs) rs137853281
NM_000053.3(ATP7B):c.3419T>C (p.Val1140Ala) rs1801249
NM_000053.3(ATP7B):c.3422C>G (p.Pro1141Arg) rs757549770
NM_000053.3(ATP7B):c.3498T>C (p.Ser1166=) rs587783314
NM_000053.3(ATP7B):c.3517G>A (p.Glu1173Lys) rs756029120
NM_000053.3(ATP7B):c.3557-6C>T rs140708492
NM_000053.3(ATP7B):c.3620A>G (p.His1207Arg) rs7334118
NM_000053.3(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496
NM_000053.3(ATP7B):c.3885C>T (p.Ala1295=) rs200597654
NM_000053.3(ATP7B):c.3886G>A (p.Asp1296Asn) rs199821556
NM_000053.3(ATP7B):c.3891C>T (p.Val1297=) rs114771537
NM_000053.3(ATP7B):c.3903+6C>T rs2282057
NM_000053.3(ATP7B):c.4125-1G>A
NM_000053.3(ATP7B):c.4185G>C (p.Leu1395=) rs368801566
NM_000053.3(ATP7B):c.4339dup (p.Asp1447Glyfs)
NM_000053.3(ATP7B):c.51+4A>T rs369488210
NM_000053.3(ATP7B):c.618T>A (p.Phe206Leu) rs764353593
NM_000053.3(ATP7B):c.670A>T (p.Ile224Phe) rs200563529
NM_000053.3(ATP7B):c.676C>T (p.Arg226Trp) rs749626601
NM_000053.3(ATP7B):c.740A>G (p.Glu247Gly) rs376398239
NM_000053.3(ATP7B):c.98T>C (p.Met33Thr) rs184868522
NM_000053.3(ATP7B):c.994G>T (p.Glu332Ter) rs761084829

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