ClinVar Miner

List of variants studied for Wilson disease by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 295
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HGVS dbSNP
NC_000013.11:g.(?_51934736)_(52028610_?)del
NC_000013.11:g.(?_51934746)_(51950409_?)del
NC_000013.11:g.(?_51934746)_(52029658_?)del
NC_000013.11:g.(?_51937256)_(51939213_?)del
NC_000013.11:g.(?_51944089)_(51946498_?)del
NC_000013.11:g.(?_51973915)_(51975188_?)del
NC_000013.11:g.(?_51973925)_(51975178_?)del
NC_000013.11:g.(?_52011277)_(52029658_?)del
NM_000053.3(ATP7B):c.-676A>G rs1021025464
NM_000053.3(ATP7B):c.3809A>G rs121907990
NM_000053.4(ATP7B):c.*16G>A rs193922100
NM_000053.4(ATP7B):c.-75C>A rs2277448
NM_000053.4(ATP7B):c.1015A>C (p.Arg339=) rs768698497
NM_000053.4(ATP7B):c.1049C>T (p.Pro350Leu)
NM_000053.4(ATP7B):c.1104G>A (p.Met368Ile)
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.1145_1151del (p.Ser382fs) rs1176709391
NM_000053.4(ATP7B):c.1155A>C (p.Glu385Asp) rs1593787847
NM_000053.4(ATP7B):c.1158_1159del (p.Val387fs) rs1593787789
NM_000053.4(ATP7B):c.1172C>T (p.Ser391Leu) rs750724856
NM_000053.4(ATP7B):c.1173G>A (p.Ser391=) rs200431213
NM_000053.4(ATP7B):c.1182G>C (p.Leu394Phe)
NM_000053.4(ATP7B):c.1191G>T (p.Gly397=) rs561017302
NM_000053.4(ATP7B):c.1195G>A (p.Ala399Thr)
NM_000053.4(ATP7B):c.1198A>G (p.Thr400Ala) rs199807461
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967
NM_000053.4(ATP7B):c.1278C>T (p.Val426=) rs143556945
NM_000053.4(ATP7B):c.1282T>G (p.Ser428Ala)
NM_000053.4(ATP7B):c.1297A>G (p.Thr433Ala)
NM_000053.4(ATP7B):c.1362A>G (p.Thr454=) rs150018860
NM_000053.4(ATP7B):c.1375G>T (p.Val459Leu) rs183044693
NM_000053.4(ATP7B):c.1401T>G (p.Pro467=) rs529527733
NM_000053.4(ATP7B):c.1415C>T (p.Pro472Leu) rs771789585
NM_000053.4(ATP7B):c.1426G>A (p.Ala476Thr) rs139289704
NM_000053.4(ATP7B):c.1461G>A (p.Pro487=) rs372068316
NM_000053.4(ATP7B):c.1543+1G>T rs1360279134
NM_000053.4(ATP7B):c.15G>A (p.Glu5=) rs751634415
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.1628C>G (p.Ala543Gly) rs777096464
NM_000053.4(ATP7B):c.1686C>T (p.Ser562=) rs138962570
NM_000053.4(ATP7B):c.1707+2dup rs781531824
NM_000053.4(ATP7B):c.1707+9T>C rs114449708
NM_000053.4(ATP7B):c.1708-1G>C rs137853280
NM_000053.4(ATP7B):c.1708-25_1719del rs1566560096
NM_000053.4(ATP7B):c.1708-5T>G rs770829226
NM_000053.4(ATP7B):c.1728G>A (p.Ala576=) rs116703544
NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs) rs753962912
NM_000053.4(ATP7B):c.1772G>A (p.Gly591Asp) rs797045402
NM_000053.4(ATP7B):c.1829C>T (p.Pro610Leu) rs368381292
NM_000053.4(ATP7B):c.1830G>A (p.Pro610=) rs375689672
NM_000053.4(ATP7B):c.1839C>T (p.Ile613=) rs370476756
NM_000053.4(ATP7B):c.1840G>T (p.Gly614Cys) rs376565432
NM_000053.4(ATP7B):c.1846C>T (p.Arg616Trp)
NM_000053.4(ATP7B):c.1847G>A (p.Arg616Gln) rs752850609
NM_000053.4(ATP7B):c.1875T>C (p.Ile625=) rs756958229
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala) rs587783299
NM_000053.4(ATP7B):c.1883A>G (p.His628Arg) rs528763888
NM_000053.4(ATP7B):c.1911C>T (p.Asn637=) rs770640457
NM_000053.4(ATP7B):c.1922T>C (p.Leu641Ser) rs186924074
NM_000053.4(ATP7B):c.1924G>C (p.Asp642His) rs72552285
NM_000053.4(ATP7B):c.1924G>T (p.Asp642Tyr) rs72552285
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998
NM_000053.4(ATP7B):c.1947-4C>T rs74904335
NM_000053.4(ATP7B):c.1965G>A (p.Leu655=) rs574041847
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.2009_2015del (p.Ile669_Tyr670insTer) rs779904655
NM_000053.4(ATP7B):c.2028C>T (p.Asn676=) rs764441090
NM_000053.4(ATP7B):c.2072G>T (p.Gly691Val) rs1555291801
NM_000053.4(ATP7B):c.2078C>G (p.Ser693Cys) rs1212479289
NM_000053.4(ATP7B):c.2121+7A>T rs1200174831
NM_000053.4(ATP7B):c.2122-3C>T rs1593726901
NM_000053.4(ATP7B):c.2123T>C (p.Leu708Pro) rs121908000
NM_000053.4(ATP7B):c.2128G>A (p.Gly710Ser) rs137853285
NM_000053.4(ATP7B):c.2129G>C (p.Gly710Ala) rs1555291285
NM_000053.4(ATP7B):c.213_214del (p.Val73fs) rs1445951068
NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=) rs751202110
NM_000053.4(ATP7B):c.2145del (p.Phe714_Tyr715insTer) rs1593726648
NM_000053.4(ATP7B):c.2157del (p.Ala718_Tyr719insTer)
NM_000053.4(ATP7B):c.2165dup (p.Arg723fs) rs768729972
NM_000053.4(ATP7B):c.2174G>A (p.Arg725Lys) rs115227204
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=) rs61733684
NM_000053.4(ATP7B):c.2190C>T (p.Asp730=) rs550565277
NM_000053.4(ATP7B):c.2223T>A (p.Tyr741Ter)
NM_000053.4(ATP7B):c.2227del (p.Tyr743fs)
NM_000053.4(ATP7B):c.226A>G (p.Ile76Val) rs200642204
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=) rs372979339
NM_000053.4(ATP7B):c.2294A>G (p.Asp765Gly) rs1555291147
NM_000053.4(ATP7B):c.2297C>G (p.Thr766Arg) rs121907997
NM_000053.4(ATP7B):c.2300C>T (p.Pro767Leu) rs776668666
NM_000053.4(ATP7B):c.2301C>T (p.Pro767=) rs770787421
NM_000053.4(ATP7B):c.2304dup (p.Met769fs) rs137853287
NM_000053.4(ATP7B):c.2305A>G (p.Met769Val) rs193922103
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=) rs398123136
NM_000053.4(ATP7B):c.2314G>A (p.Val772Met) rs554893410
NM_000053.4(ATP7B):c.2325C>A (p.Ala775=) rs755218710
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly) rs137853284
NM_000053.4(ATP7B):c.2332C>T (p.Arg778Trp) rs137853284
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu) rs28942074
NM_000053.4(ATP7B):c.2336G>A (p.Trp779Ter) rs137853283
NM_000053.4(ATP7B):c.2338C>G (p.Leu780Val) rs1593725352
NM_000053.4(ATP7B):c.2355+13T>G rs139211339
NM_000053.4(ATP7B):c.2355+4A>G rs776572343
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe) rs751710854
NM_000053.4(ATP7B):c.2436T>C (p.Asn812=) rs533967323
NM_000053.4(ATP7B):c.2447+1G>T
NM_000053.4(ATP7B):c.2447+8_2447+9insAA rs746283578
NM_000053.4(ATP7B):c.2475G>A (p.Val825=) rs373528664
NM_000053.4(ATP7B):c.2478_2479delinsT (p.Gln826fs) rs1555288808
NM_000053.4(ATP7B):c.2484C>T (p.Gly828=) rs570594838
NM_000053.4(ATP7B):c.2486A>G (p.Asp829Gly) rs1566503575
NM_000053.4(ATP7B):c.2490C>T (p.Ile830=) rs759213674
NM_000053.4(ATP7B):c.2510dup (p.Phe839fs) rs964976261
NM_000053.4(ATP7B):c.2512A>G (p.Lys838Glu)
NM_000053.4(ATP7B):c.2532del (p.Val845fs) rs755709270
NM_000053.4(ATP7B):c.2544C>T (p.Gly848=) rs200996053
NM_000053.4(ATP7B):c.2549C>T (p.Thr850Ile) rs777629392
NM_000053.4(ATP7B):c.2576-6G>A rs755819821
NM_000053.4(ATP7B):c.2583C>T (p.Ala861=) rs565717791
NM_000053.4(ATP7B):c.2604C>T (p.Pro868=) rs368902724
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val) rs121907994
NM_000053.4(ATP7B):c.2622G>A (p.Ala874=) rs896503662
NM_000053.4(ATP7B):c.2659G>A (p.Ala887Thr) rs768479687
NM_000053.4(ATP7B):c.2662A>C (p.Thr888Pro) rs1455758826
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met) rs786204718
NM_000053.4(ATP7B):c.2692C>T (p.Gln898Ter)
NM_000053.4(ATP7B):c.2730+10A>G rs1593695636
NM_000053.4(ATP7B):c.2731-2A>G rs367956522
NM_000053.4(ATP7B):c.2752G>A (p.Asp918Asn) rs540935874
NM_000053.4(ATP7B):c.2755C>G (p.Arg919Gly) rs121907993
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp) rs121907993
NM_000053.4(ATP7B):c.2781del (p.Phe927fs)
NM_000053.4(ATP7B):c.2784_2786CAT[2] (p.Ile930del)
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val) rs534960245
NM_000053.4(ATP7B):c.2787C>G (p.Ile929Met) rs773527867
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met) rs750019452
NM_000053.4(ATP7B):c.2810del (p.Val937fs) rs1057516643
NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser) rs28942076
NM_000053.4(ATP7B):c.2859C>T (p.Tyr953=) rs762782389
NM_000053.4(ATP7B):c.2862T>C (p.Phe954=) rs972405411
NM_000053.4(ATP7B):c.2866-2A>G rs1377418826
NM_000053.4(ATP7B):c.2906G>A (p.Arg969Gln) rs121907996
NM_000053.4(ATP7B):c.2921C>T (p.Thr974Met) rs201061621
NM_000053.4(ATP7B):c.2924C>A (p.Ser975Tyr)
NM_000053.4(ATP7B):c.2930C>T (p.Thr977Met) rs72552255
NM_000053.4(ATP7B):c.2953T>C (p.Cys985Arg) rs193922104
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.2975C>T (p.Pro992Leu) rs201038679
NM_000053.4(ATP7B):c.2979G>C (p.Thr993=) rs200656411
NM_000053.4(ATP7B):c.2997C>G (p.Thr999=) rs199581971
NM_000053.4(ATP7B):c.2998G>A (p.Gly1000Arg) rs751078884
NM_000053.4(ATP7B):c.3006C>T (p.Ala1002=) rs369620062
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr) rs201497300
NM_000053.4(ATP7B):c.3015C>T (p.Asn1005=) rs74085888
NM_000053.4(ATP7B):c.3036dup (p.Lys1013fs) rs1555287300
NM_000053.4(ATP7B):c.3042C>T (p.Pro1014=) rs1438628867
NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val) rs371840514
NM_000053.4(ATP7B):c.3054G>A (p.Ala1018=) rs193922105
NM_000053.4(ATP7B):c.3057C>T (p.His1019=) rs1352113797
NM_000053.4(ATP7B):c.3061-2A>G
NM_000053.4(ATP7B):c.3061-549_3081del
NM_000053.4(ATP7B):c.3069T>C (p.Thr1023=) rs187343742
NM_000053.4(ATP7B):c.3079G>C (p.Asp1027His) rs1593672840
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.3104G>T (p.Gly1035Val) rs753594031
NM_000053.4(ATP7B):c.3105C>T (p.Gly1035=) rs200324179
NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp) rs746485916
NM_000053.4(ATP7B):c.3123G>C (p.Arg1041=) rs1192564410
NM_000053.4(ATP7B):c.3139G>T (p.Asp1047Tyr) rs1441316018
NM_000053.4(ATP7B):c.314C>A (p.Ser105Ter) rs753236073
NM_000053.4(ATP7B):c.3155C>T (p.Pro1052Leu) rs778543794
NM_000053.4(ATP7B):c.3160A>C (p.Arg1054=) rs377586515
NM_000053.4(ATP7B):c.3185C>T (p.Thr1062Ile) rs763053197
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala) rs374094065
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636
NM_000053.4(ATP7B):c.3211T>C (p.Leu1071=) rs748003525
NM_000053.4(ATP7B):c.3243+2T>C rs1593671769
NM_000053.4(ATP7B):c.3244-2A>G rs786204584
NM_000053.4(ATP7B):c.325C>T (p.Leu109=) rs751920801
NM_000053.4(ATP7B):c.3261C>A (p.Thr1087=) rs375820067
NM_000053.4(ATP7B):c.3278A>G (p.Asp1093Gly)
NM_000053.4(ATP7B):c.3284A>C (p.Gln1095Pro) rs1555285891
NM_000053.4(ATP7B):c.3324C>T (p.Asn1108=) rs372456815
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.3396C>T (p.Ser1132=) rs370947152
NM_000053.4(ATP7B):c.3402C>T (p.Pro1134=) rs145887771
NM_000053.4(ATP7B):c.3402del (p.Ala1135fs) rs137853281
NM_000053.4(ATP7B):c.3403G>A (p.Ala1135Thr) rs187200982
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=) rs373081328
NM_000053.4(ATP7B):c.3426G>C (p.Gln1142His) rs778749563
NM_000053.4(ATP7B):c.3443T>C (p.Ile1148Thr) rs60431989
NM_000053.4(ATP7B):c.3449del (p.Asn1150fs) rs1555285380
NM_000053.4(ATP7B):c.3467G>A (p.Arg1156His) rs773917820
NM_000053.4(ATP7B):c.3489C>T (p.Ser1163=) rs193922106
NM_000053.4(ATP7B):c.3498T>C (p.Ser1166=) rs587783314
NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys) rs756029120
NM_000053.4(ATP7B):c.352G>A (p.Asp118Asn) rs769655497
NM_000053.4(ATP7B):c.3556+1G>A rs184388696
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser) rs786204547
NM_000053.4(ATP7B):c.3557-6C>T rs140708492
NM_000053.4(ATP7B):c.3582C>T (p.Ile1194=) rs761183334
NM_000053.4(ATP7B):c.3588C>T (p.Asp1196=) rs11840224
NM_000053.4(ATP7B):c.3588dup (p.Ala1197fs)
NM_000053.4(ATP7B):c.3618G>A (p.Val1206=) rs754144261
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.3624G>T (p.Thr1208=) rs377267217
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met) rs776280797
NM_000053.4(ATP7B):c.3649_3654del (p.Val1217_Leu1218del) rs781266802
NM_000053.4(ATP7B):c.3659C>T (p.Thr1220Met) rs193922107
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.3694A>C (p.Thr1232Pro) rs568009639
NM_000053.4(ATP7B):c.3695C>T (p.Thr1232Ile)
NM_000053.4(ATP7B):c.3699+9C>T rs1593651766
NM_000053.4(ATP7B):c.3716T>G (p.Val1239Gly) rs374628199
NM_000053.4(ATP7B):c.3784G>T (p.Val1262Phe) rs769484789
NM_000053.4(ATP7B):c.3786C>T (p.Val1262=) rs375007352
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg) rs121907992
NM_000053.4(ATP7B):c.3797G>A (p.Gly1266Glu) rs1566444586
NM_000053.4(ATP7B):c.3818C>A (p.Pro1273Gln) rs758355520
NM_000053.4(ATP7B):c.3818C>T (p.Pro1273Leu) rs758355520
NM_000053.4(ATP7B):c.3842G>T (p.Gly1281Val)
NM_000053.4(ATP7B):c.3884C>T (p.Ala1295Val) rs1340942427
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.3895C>T (p.Leu1299Phe) rs749472361
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.3955C>T (p.Arg1319Ter) rs193922109
NM_000053.4(ATP7B):c.3960G>C (p.Arg1320Ser)
NM_000053.4(ATP7B):c.3974del (p.Leu1325fs)
NM_000053.4(ATP7B):c.4021+3A>G rs565970531
NM_000053.4(ATP7B):c.4022G>A (p.Gly1341Asp) rs779494870
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser) rs587783318
NM_000053.4(ATP7B):c.4051C>T (p.Gln1351Ter) rs786204578
NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter) rs193922110
NM_000053.4(ATP7B):c.4063G>A (p.Gly1355Ser) rs1555282751
NM_000053.4(ATP7B):c.406A>G (p.Arg136Gly) rs557577836
NM_000053.4(ATP7B):c.406A>T (p.Arg136Trp) rs557577836
NM_000053.4(ATP7B):c.4077G>T (p.Met1359Ile) rs759551693
NM_000053.4(ATP7B):c.4090_4091GT[1] (p.Ser1365fs) rs771603301
NM_000053.4(ATP7B):c.4102C>G (p.Leu1368Val) rs768467658
NM_000053.4(ATP7B):c.4110C>T (p.Ser1370=) rs779979628
NM_000053.4(ATP7B):c.4119C>G (p.Leu1373=) rs1593637201
NM_000053.4(ATP7B):c.4124+8C>G rs1459365269
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>A (p.Leu1395=) rs368801566
NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser) rs189601972
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.4287G>A (p.Ser1429=) rs747816425
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.4315T>C (p.Ser1439Pro)
NM_000053.4(ATP7B):c.4318C>T (p.Arg1440Trp) rs543334965
NM_000053.4(ATP7B):c.4379A>G (p.Asp1460Gly) rs1593633844
NM_000053.4(ATP7B):c.4395C>A (p.Ile1465=) rs199859839
NM_000053.4(ATP7B):c.442C>T (p.Arg148Trp) rs373762572
NM_000053.4(ATP7B):c.46C>A (p.Arg16=) rs1593892536
NM_000053.4(ATP7B):c.482T>C (p.Ile161Thr) rs531199827
NM_000053.4(ATP7B):c.51+4A>T rs369488210
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs) rs558037268
NM_000053.4(ATP7B):c.525dup (p.Val176fs) rs558037268
NM_000053.4(ATP7B):c.540C>T (p.Asn180=) rs537892210
NM_000053.4(ATP7B):c.549C>T (p.Ala183=) rs772619981
NM_000053.4(ATP7B):c.550G>A (p.Val184Ile) rs199634511
NM_000053.4(ATP7B):c.588C>A (p.Asp196Glu) rs756718353
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.747G>A (p.Leu249=) rs554554415
NM_000053.4(ATP7B):c.778dup (p.Gln260fs) rs786204570
NM_000053.4(ATP7B):c.781C>T (p.Leu261=) rs1593789718
NM_000053.4(ATP7B):c.804dup (p.Lys269Ter)
NM_000053.4(ATP7B):c.813C>T (p.Cys271=) rs572147914
NM_000053.4(ATP7B):c.835A>G (p.Ile279Val)
NM_000053.4(ATP7B):c.845del (p.Leu282fs) rs193922111
NM_000053.4(ATP7B):c.854T>G (p.Val285Gly) rs1411865806
NM_000053.4(ATP7B):c.865C>T (p.Gln289Ter) rs121907999
NM_000053.4(ATP7B):c.879G>A (p.Glu293=) rs1593789326
NM_000053.4(ATP7B):c.918_931del (p.Ser307fs)
NM_000053.4(ATP7B):c.98T>C (p.Met33Thr) rs184868522
NM_000053.4(ATP7B):c.990A>G (p.Gly330=) rs754086671
NM_000053.4(ATP7B):c.993C>T (p.Ala331=) rs377294197
NM_001004127.2(ALG11):c.-674A>G rs28362532

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