ClinVar Miner

List of variants in gene ATP7B reported as uncertain significance for abdominal and pelvic region disorder

Included ClinVar conditions (956):
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Gene type:
ClinVar version:
Total variants: 218
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HGVS dbSNP
NM_000053.3(ATP7B):c.-388C>T rs913869716
NM_000053.3(ATP7B):c.-676_-659dup rs1555304816
NM_000053.4(ATP7B):c.*1005G>T rs563813110
NM_000053.4(ATP7B):c.*1009G>A rs79747858
NM_000053.4(ATP7B):c.*1014A>G rs540878290
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.*111G>A rs546262455
NM_000053.4(ATP7B):c.*1265A>G rs762692870
NM_000053.4(ATP7B):c.*1385G>A rs41292780
NM_000053.4(ATP7B):c.*1409A>C rs537012324
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.*1558T>A rs886050298
NM_000053.4(ATP7B):c.*1592T>C rs886050297
NM_000053.4(ATP7B):c.*15C>T rs73498144
NM_000053.4(ATP7B):c.*1659A>G rs113688195
NM_000053.4(ATP7B):c.*16G>A rs193922100
NM_000053.4(ATP7B):c.*1756T>C rs886050296
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.*421C>T rs556584760
NM_000053.4(ATP7B):c.*510G>T rs886050304
NM_000053.4(ATP7B):c.*781T>C rs886050303
NM_000053.4(ATP7B):c.*786T>C rs886050302
NM_000053.4(ATP7B):c.*851T>C rs553202651
NM_000053.4(ATP7B):c.*870C>T rs532782366
NM_000053.4(ATP7B):c.*963C>T rs371788814
NM_000053.4(ATP7B):c.*994_*997del rs886050301
NM_000053.4(ATP7B):c.-54G>T rs115564351
NM_000053.4(ATP7B):c.-73G>T rs886050309
NM_000053.4(ATP7B):c.-74C>A rs193922101
NM_000053.4(ATP7B):c.-74C>T rs193922101
NM_000053.4(ATP7B):c.-97C>T rs886050310
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)
NM_000053.4(ATP7B):c.1172C>T (p.Ser391Leu) rs750724856
NM_000053.4(ATP7B):c.1191G>T (p.Gly397=)
NM_000053.4(ATP7B):c.1198A>G (p.Thr400Ala)
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.130T>A (p.Tyr44Asn) rs1566605396
NM_000053.4(ATP7B):c.133G>A (p.Glu45Lys) rs777504965
NM_000053.4(ATP7B):c.1415C>T (p.Pro472Leu) rs771789585
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.1616C>T (p.Pro539Leu) rs572122562
NM_000053.4(ATP7B):c.1621G>A (p.Glu541Lys) rs187046823
NM_000053.4(ATP7B):c.1628C>G (p.Ala543Gly)
NM_000053.4(ATP7B):c.1707+2dup
NM_000053.4(ATP7B):c.1708-3C>G
NM_000053.4(ATP7B):c.1771G>A (p.Gly591Ser) rs1566559224
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.1840G>T (p.Gly614Cys) rs376565432
NM_000053.4(ATP7B):c.1907C>A (p.Pro636His)
NM_000053.4(ATP7B):c.1915C>T (p.His639Tyr) rs200728096
NM_000053.4(ATP7B):c.1922T>C (p.Leu641Ser) rs186924074
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998
NM_000053.4(ATP7B):c.1946+6T>C rs751287778
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.19_20del (p.Gln7fs) rs749363958
NM_000053.4(ATP7B):c.2002A>G (p.Met668Val) rs587783301
NM_000053.4(ATP7B):c.2057_2059ACA[1] (p.Asn687del) rs770107276
NM_000053.4(ATP7B):c.2069C>T (p.Pro690Leu) rs1555291809
NM_000053.4(ATP7B):c.2078C>G (p.Ser693Cys) rs1212479289
NM_000053.4(ATP7B):c.2094_2096CTT[1] (p.Phe700del) rs1555291787
NM_000053.4(ATP7B):c.2122-3C>T
NM_000053.4(ATP7B):c.2129G>C (p.Gly710Ala) rs1555291285
NM_000053.4(ATP7B):c.2131G>T (p.Gly711Trp) rs1394999756
NM_000053.4(ATP7B):c.2143T>C (p.Tyr715His) rs1555291272
NM_000053.4(ATP7B):c.2152G>C (p.Ala718Pro) rs1555291265
NM_000053.4(ATP7B):c.2251G>T (p.Ala751Ser) rs1555291181
NM_000053.4(ATP7B):c.2267C>T (p.Ala756Val) rs769927137
NM_000053.4(ATP7B):c.2279C>T (p.Pro760Leu) rs766907687
NM_000053.4(ATP7B):c.2300C>T (p.Pro767Leu)
NM_000053.4(ATP7B):c.2314G>A (p.Val772Met)
NM_000053.4(ATP7B):c.2326C>G (p.Leu776Val) rs1217463955
NM_000053.4(ATP7B):c.2338C>G (p.Leu780Val)
NM_000053.4(ATP7B):c.2354A>G (p.Lys785Arg) rs1555291085
NM_000053.4(ATP7B):c.2355+4A>G rs776572343
NM_000053.4(ATP7B):c.2375T>C (p.Leu792Pro)
NM_000053.4(ATP7B):c.2390C>T (p.Ser797Phe) rs1555290883
NM_000053.4(ATP7B):c.2469G>C (p.Glu823Asp) rs886050306
NM_000053.4(ATP7B):c.2480G>C (p.Arg827Pro) rs368589213
NM_000053.4(ATP7B):c.2480G>T (p.Arg827Leu) rs368589213
NM_000053.4(ATP7B):c.2486A>G (p.Asp829Gly) rs1566503575
NM_000053.4(ATP7B):c.2544C>T (p.Gly848=) rs200996053
NM_000053.4(ATP7B):c.2575+5G>C rs551030054
NM_000053.4(ATP7B):c.2591T>G (p.Val864Gly) rs1555288669
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val) rs121907994
NM_000053.4(ATP7B):c.2622G>A (p.Ala874=)
NM_000053.4(ATP7B):c.2659G>A (p.Ala887Thr)
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met) rs786204718
NM_000053.4(ATP7B):c.2672G>A (p.Gly891Asp) rs483352684
NM_000053.4(ATP7B):c.2681C>T (p.Thr894Ile)
NM_000053.4(ATP7B):c.268_270del (p.Lys90del) rs751970838
NM_000053.4(ATP7B):c.2701A>G (p.Lys901Glu)
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp) rs121907993
NM_000053.4(ATP7B):c.2787C>G (p.Ile929Met)
NM_000053.4(ATP7B):c.2797A>C (p.Thr933Pro) rs1555288410
NM_000053.4(ATP7B):c.2827G>T (p.Gly943Cys) rs28942076
NM_000053.4(ATP7B):c.2845_2847GTT[1] (p.Val950del) rs1424494639
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp) rs774028495
NM_000053.4(ATP7B):c.2921C>T (p.Thr974Met) rs201061621
NM_000053.4(ATP7B):c.2945C>T (p.Ala982Val) rs1487547257
NM_000053.4(ATP7B):c.2953T>C (p.Cys985Arg) rs193922104
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782
NM_000053.4(ATP7B):c.2975C>A (p.Pro992His) rs201038679
NM_000053.4(ATP7B):c.2978C>T (p.Thr993Met) rs200290721
NM_000053.4(ATP7B):c.2980G>T (p.Ala994Ser) rs1555287372
NM_000053.4(ATP7B):c.2984T>C (p.Val995Ala) rs777791532
NM_000053.4(ATP7B):c.2998G>A (p.Gly1000Arg) rs751078884
NM_000053.4(ATP7B):c.3051G>A (p.Met1017Ile) rs755851188
NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val) rs371840514
NM_000053.4(ATP7B):c.3071T>C (p.Val1024Ala) rs1416453532
NM_000053.4(ATP7B):c.3097A>G (p.Thr1033Ala) rs1555286620
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.3106G>A (p.Val1036Ile) rs761147984
NM_000053.4(ATP7B):c.3139G>T (p.Asp1047Tyr)
NM_000053.4(ATP7B):c.3155C>T (p.Pro1052Leu) rs778543794
NM_000053.4(ATP7B):c.3185C>T (p.Thr1062Ile)
NM_000053.4(ATP7B):c.3203A>G (p.Glu1068Gly) rs1555286478
NM_000053.4(ATP7B):c.3208C>T (p.Pro1070Ser) rs1423701688
NM_000053.4(ATP7B):c.322T>C (p.Cys108Arg) rs1566603189
NM_000053.4(ATP7B):c.3266G>A (p.Gly1089Glu) rs1555285911
NM_000053.4(ATP7B):c.3272G>A (p.Cys1091Tyr) rs778825095
NM_000053.4(ATP7B):c.3275C>T (p.Thr1092Met) rs368545738
NM_000053.4(ATP7B):c.3324C>T (p.Asn1108=) rs372456815
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=) rs61733679
NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=) rs370947152
NM_000053.4(ATP7B):c.3422C>G (p.Pro1141Arg) rs757549770
NM_000053.4(ATP7B):c.3426G>C (p.Gln1142His) rs778749563
NM_000053.4(ATP7B):c.3431_3433del (p.Phe1144del) rs1555285393
NM_000053.4(ATP7B):c.3451C>G (p.Arg1151Gly) rs755554442
NM_000053.4(ATP7B):c.3467G>A (p.Arg1156His) rs773917820
NM_000053.4(ATP7B):c.3473G>T (p.Gly1158Val)
NM_000053.4(ATP7B):c.3498T>C (p.Ser1166=) rs587783314
NM_000053.4(ATP7B):c.3502G>T (p.Ala1168Ser) rs777879359
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly) rs587783315
NM_000053.4(ATP7B):c.3556G>C (p.Gly1186Arg) rs786204547
NM_000053.4(ATP7B):c.3557-6C>T rs140708492
NM_000053.4(ATP7B):c.3589G>A (p.Ala1197Thr) rs758025913
NM_000053.4(ATP7B):c.3638G>T (p.Gly1213Val) rs1555284582
NM_000053.4(ATP7B):c.3644A>G (p.Asp1215Gly) rs1555284575
NM_000053.4(ATP7B):c.3662_3664del (p.Gly1221del) rs886042519
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.3716T>G (p.Val1239Gly) rs374628199
NM_000053.4(ATP7B):c.3733C>G (p.Pro1245Ala) rs587783316
NM_000053.4(ATP7B):c.3741C>G (p.His1247Gln) rs767464491
NM_000053.4(ATP7B):c.3767A>G (p.Gln1256Arg) rs1555283946
NM_000053.4(ATP7B):c.3797G>A (p.Gly1266Glu) rs1566444586
NM_000053.4(ATP7B):c.3821C>T (p.Ala1274Val) rs1555283882
NM_000053.4(ATP7B):c.3836A>G (p.Asp1279Gly) rs778914828
NM_000053.4(ATP7B):c.3842G>A (p.Gly1281Asp) rs755202606
NM_000053.4(ATP7B):c.3852_3875del (p.Gly1285_Ile1292del) rs1555283826
NM_000053.4(ATP7B):c.3863C>G (p.Thr1288Arg) rs373748155
NM_000053.4(ATP7B):c.3863C>T (p.Thr1288Met) rs373748155
NM_000053.4(ATP7B):c.3877G>A (p.Glu1293Lys) rs776300396
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.3889G>A (p.Val1297Ile) rs148399850
NM_000053.4(ATP7B):c.3891C>T (p.Val1297=) rs114771537
NM_000053.4(ATP7B):c.3912_3913delinsTT (p.Leu1304Phe) rs1555283732
NM_000053.4(ATP7B):c.3914T>C (p.Leu1305Pro) rs377144951
NM_000053.4(ATP7B):c.3971A>C (p.Asn1324Thr) rs760285767
NM_000053.4(ATP7B):c.3992A>C (p.Tyr1331Ser) rs1131691741
NM_000053.4(ATP7B):c.4063G>A (p.Gly1355Ser) rs1555282751
NM_000053.4(ATP7B):c.4064G>A (p.Gly1355Asp) rs1305262063
NM_000053.4(ATP7B):c.406A>T (p.Arg136Trp) rs557577836
NM_000053.4(ATP7B):c.4077G>T (p.Met1359Ile)
NM_000053.4(ATP7B):c.4102C>G (p.Leu1368Val) rs768467658
NM_000053.4(ATP7B):c.4106C>T (p.Ser1369Leu) rs1555282678
NM_000053.4(ATP7B):c.4118T>C (p.Leu1373Pro) rs780811477
NM_000053.4(ATP7B):c.4124G>C (p.Cys1375Ser) rs1365425480
NM_000053.4(ATP7B):c.4125-1G>A rs1293549383
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704
NM_000053.4(ATP7B):c.4163C>T (p.Ala1388Val) rs371458882
NM_000053.4(ATP7B):c.4185G>C (p.Leu1395=) rs368801566
NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser) rs189601972
NM_000053.4(ATP7B):c.4215C>T (p.Gly1405=)
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317
NM_000053.4(ATP7B):c.4318C>T (p.Arg1440Trp)
NM_000053.4(ATP7B):c.4325del (p.Ser1442fs) rs774744497
NM_000053.4(ATP7B):c.432_434del (p.Val145del) rs1555296674
NM_000053.4(ATP7B):c.4336dup (p.Asp1446fs) rs1555282097
NM_000053.4(ATP7B):c.4339dup (p.Asp1447fs) rs1345677703
NM_000053.4(ATP7B):c.433G>T (p.Val145Phe) rs183365083
NM_000053.4(ATP7B):c.4379A>G (p.Asp1460Gly)
NM_000053.4(ATP7B):c.4387C>T (p.Gln1463Ter) rs1392030070
NM_000053.4(ATP7B):c.4388A>G (p.Gln1463Arg)
NM_000053.4(ATP7B):c.482T>C (p.Ile161Thr) rs531199827
NM_000053.4(ATP7B):c.550G>A (p.Val184Ile)
NM_000053.4(ATP7B):c.588C>A (p.Asp196Glu) rs756718353
NM_000053.4(ATP7B):c.618T>A (p.Phe206Leu) rs764353593
NM_000053.4(ATP7B):c.628A>G (p.Ile210Val) rs61733680
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.764_775del (p.His255_Thr258del) rs1417723997
NM_000053.4(ATP7B):c.854T>G (p.Val285Gly) rs1411865806
NM_000053.4(ATP7B):c.98T>C (p.Met33Thr) rs184868522
NM_001243182.1(ATP7B):c.-117delinsATCGGC rs1555304632
NM_001243182.1(ATP7B):c.-122G>A rs886050311
NM_001243182.1(ATP7B):c.-124_-123insTGCCG rs766338038
NM_001243182.1(ATP7B):c.-126_-125insTGCGC rs1322135702

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