ClinVar Miner

List of variants in gene ATP7B studied for not specified

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Total variants: 127
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HGVS dbSNP
NM_000053.4(ATP7B):c.*15C>T rs73498144
NM_000053.4(ATP7B):c.-54G>T rs115564351
NM_000053.4(ATP7B):c.1041C>T (p.Gly347=) rs1453094974
NM_000053.4(ATP7B):c.1122C>G (p.Val374=) rs201254466
NM_000053.4(ATP7B):c.1129A>G (p.Ile377Val) rs775754066
NM_000053.4(ATP7B):c.1158G>T (p.Gly386=) rs778775834
NM_000053.4(ATP7B):c.1215C>T (p.Pro405=) rs201020290
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243
NM_000053.4(ATP7B):c.1278C>T (p.Val426=) rs143556945
NM_000053.4(ATP7B):c.1298C>G (p.Thr433Ser) rs763788226
NM_000053.4(ATP7B):c.1336G>C (p.Val446Leu) rs587783298
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu) rs1801244
NM_000053.4(ATP7B):c.1426G>A (p.Ala476Thr) rs139289704
NM_000053.4(ATP7B):c.1428A>G (p.Ala476=) rs914451059
NM_000053.4(ATP7B):c.1543+13C>T rs200171850
NM_000053.4(ATP7B):c.1543+14G>A rs770362811
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.1707+9T>C rs114449708
NM_000053.4(ATP7B):c.1707+9TG[3] rs797045401
NM_000053.4(ATP7B):c.1708-14A>G rs751612293
NM_000053.4(ATP7B):c.1728G>A (p.Ala576=) rs116703544
NM_000053.4(ATP7B):c.1760C>T (p.Thr587Met) rs757716093
NM_000053.4(ATP7B):c.1762A>C (p.Arg588=) rs1566559391
NM_000053.4(ATP7B):c.1829C>T (p.Pro610Leu) rs368381292
NM_000053.4(ATP7B):c.1839C>T (p.Ile613=) rs370476756
NM_000053.4(ATP7B):c.1869+20A>G rs566255910
NM_000053.4(ATP7B):c.1870-65G>A rs9535809
NM_000053.4(ATP7B):c.1878C>T (p.Gly626=) rs587783300
NM_000053.4(ATP7B):c.1912G>A (p.Ala638Thr) rs886038218
NM_000053.4(ATP7B):c.1947-15G>T rs1555291926
NM_000053.4(ATP7B):c.1947-4C>T rs74904335
NM_000053.4(ATP7B):c.1965G>T (p.Leu655=) rs574041847
NM_000053.4(ATP7B):c.2028C>T (p.Asn676=) rs764441090
NM_000053.4(ATP7B):c.2067T>C (p.Ile689=) rs1274947728
NM_000053.4(ATP7B):c.2078C>A (p.Ser693Tyr) rs1212479289
NM_000053.4(ATP7B):c.2123T>C (p.Leu708Pro) rs121908000
NM_000053.4(ATP7B):c.2146G>A (p.Val716Ile) rs886038219
NM_000053.4(ATP7B):c.2166G>A (p.Leu722=) rs587783302
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=) rs61733684
NM_000053.4(ATP7B):c.2184C>G (p.Asn728Lys) rs1202766392
NM_000053.4(ATP7B):c.2190C>T (p.Asp730=) rs550565277
NM_000053.4(ATP7B):c.2268G>A (p.Ala756=) rs755387536
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=) rs372979339
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=) rs398123136
NM_000053.4(ATP7B):c.2336G>A (p.Trp779Ter) rs137853283
NM_000053.4(ATP7B):c.2355+13T>G rs139211339
NM_000053.4(ATP7B):c.2448-11G>A rs200450017
NM_000053.4(ATP7B):c.2448-25G>A rs9526811
NM_000053.4(ATP7B):c.2484C>T (p.Gly828=) rs570594838
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg) rs1061472
NM_000053.4(ATP7B):c.2623G>A (p.Gly875Arg) rs587783304
NM_000053.4(ATP7B):c.2673C>G (p.Gly891=) rs587783305
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val) rs534960245
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys) rs732774
NM_000053.4(ATP7B):c.2859C>T (p.Tyr953=) rs762782389
NM_000053.4(ATP7B):c.2866-13G>C rs7325983
NM_000053.4(ATP7B):c.2866-21C>T rs763362019
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.2973G>A (p.Thr991=) rs1801246
NM_000053.4(ATP7B):c.2976C>A (p.Pro992=) rs746358240
NM_000053.4(ATP7B):c.2979G>C (p.Thr993=) rs200656411
NM_000053.4(ATP7B):c.3009G>A (p.Ala1003=) rs1801247
NM_000053.4(ATP7B):c.3015C>T (p.Asn1005=) rs74085888
NM_000053.4(ATP7B):c.3021C>A (p.Ile1007=) rs1566484621
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=) rs1801248
NM_000053.4(ATP7B):c.3060+16G>T rs76163470
NM_000053.4(ATP7B):c.3069T>C (p.Thr1023=) rs187343742
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg) rs74085882
NM_000053.4(ATP7B):c.3105C>T (p.Gly1035=) rs200324179
NM_000053.4(ATP7B):c.3160A>C (p.Arg1054=) rs377586515
NM_000053.4(ATP7B):c.3169C>T (p.Leu1057=) rs587783308
NM_000053.4(ATP7B):c.3182G>A (p.Gly1061Glu) rs764131178
NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val) rs587783309
NM_000053.4(ATP7B):c.3210C>T (p.Pro1070=) rs587783310
NM_000053.4(ATP7B):c.325C>T (p.Leu109=) rs751920801
NM_000053.4(ATP7B):c.3272G>A (p.Cys1091Tyr) rs778825095
NM_000053.4(ATP7B):c.3298T>A (p.Cys1100Ser) rs1566468882
NM_000053.4(ATP7B):c.3324C>T (p.Asn1108=) rs372456815
NM_000053.4(ATP7B):c.3360G>A (p.Leu1120=) rs1555285820
NM_000053.4(ATP7B):c.3366A>G (p.Ala1122=) rs59120265
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=) rs61733679
NM_000053.4(ATP7B):c.3381G>A (p.Leu1127=) rs587783311
NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=) rs370947152
NM_000053.4(ATP7B):c.3399T>C (p.Leu1133=) rs587783312
NM_000053.4(ATP7B):c.3402C>T (p.Pro1134=) rs145887771
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=) rs373081328
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala) rs1801249
NM_000053.4(ATP7B):c.3422C>G (p.Pro1141Arg) rs757549770
NM_000053.4(ATP7B):c.3428C>A (p.Thr1143Asn) rs587783313
NM_000053.4(ATP7B):c.3498T>C (p.Ser1166=) rs587783314
NM_000053.4(ATP7B):c.352G>A (p.Asp118Asn) rs769655497
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly) rs587783315
NM_000053.4(ATP7B):c.3557-31G>T rs74085875
NM_000053.4(ATP7B):c.3557-6C>T rs140708492
NM_000053.4(ATP7B):c.3557-7G>A rs368128448
NM_000053.4(ATP7B):c.3588C>T (p.Asp1196=) rs11840224
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118
NM_000053.4(ATP7B):c.3624G>A (p.Thr1208=) rs377267217
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.3700G>T (p.Val1234Phe) rs193922108
NM_000053.4(ATP7B):c.3733C>T (p.Pro1245Ser) rs587783316
NM_000053.4(ATP7B):c.3749C>G (p.Ala1250Gly) rs372042739
NM_000053.4(ATP7B):c.3863C>T (p.Thr1288Met) rs373748155
NM_000053.4(ATP7B):c.3885C>T (p.Ala1295=) rs200597654
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850
NM_000053.4(ATP7B):c.3891C>T (p.Val1297=) rs114771537
NM_000053.4(ATP7B):c.3903+6C>T rs2282057
NM_000053.4(ATP7B):c.4021+50G>C rs9535795
NM_000053.4(ATP7B):c.4022-19C>T rs369736734
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704
NM_000053.4(ATP7B):c.41C>A (p.Ala14Asp) rs587783319
NM_000053.4(ATP7B):c.4221T>A (p.Asp1407Glu) rs587783320
NM_000053.4(ATP7B):c.4251A>G (p.Thr1417=) rs546721020
NM_000053.4(ATP7B):c.4290del (p.Ser1431fs) rs1555282185
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317
NM_000053.4(ATP7B):c.4302G>A (p.Thr1434=) rs116091486
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=) rs73202048
NM_000053.4(ATP7B):c.4361T>C (p.Leu1454Pro) rs377492122
NM_000053.4(ATP7B):c.51+13C>T rs770273498
NM_000053.4(ATP7B):c.51+15C>G rs781757171
NM_000053.4(ATP7B):c.670A>T (p.Ile224Phe) rs200563529
NM_000053.4(ATP7B):c.870G>C (p.Val290=) rs587783321
NM_000053.4(ATP7B):c.9G>A (p.Glu3=) rs587783322
NM_001243182.1(ATP7B):c.-119del rs587783297

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