ClinVar Miner

List of variants in gene ATP7B reported as likely pathogenic for Wilson disease

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Gene type:
ClinVar version:
Total variants: 466
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HGVS dbSNP gnomAD frequency
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=) rs1801248 0.02598
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782 0.00155
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496 0.00048
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998 0.00041
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967 0.00025
NM_000053.4(ATP7B):c.3583G>A (p.Ala1195Thr) rs202218969 0.00015
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn) rs199821556 0.00014
NM_000053.4(ATP7B):c.347T>C (p.Ile116Thr) rs199773340 0.00012
NM_000053.4(ATP7B):c.1915C>T (p.His639Tyr) rs200728096 0.00011
NM_000053.4(ATP7B):c.3G>A (p.Met1Ile) rs750530407 0.00011
NM_000053.4(ATP7B):c.3243+5G>A rs373193482 0.00010
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala) rs374094065 0.00009
NM_000053.4(ATP7B):c.3859G>A (p.Gly1287Ser) rs762866453 0.00009
NM_000053.4(ATP7B):c.2731-2A>G rs367956522 0.00008
NM_000053.4(ATP7B):c.-676A>G rs1021025464 0.00006
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala) rs587783299 0.00006
NM_000053.4(ATP7B):c.2479C>T (p.Arg827Trp) rs539585071 0.00006
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met) rs776280797 0.00006
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg) rs121907992 0.00006
NM_000053.4(ATP7B):c.1285+5G>T rs370579582 0.00005
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile) rs541208827 0.00005
NM_000053.4(ATP7B):c.2183A>G (p.Asn728Ser) rs760713333 0.00004
NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys) rs755554442 0.00004
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser) rs587783318 0.00004
NM_000053.4(ATP7B):c.503T>C (p.Leu168Pro) rs756237962 0.00004
NM_000053.4(ATP7B):c.2300C>T (p.Pro767Leu) rs776668666 0.00003
NM_000053.4(ATP7B):c.2363C>T (p.Thr788Ile) rs541408630 0.00003
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met) rs786204718 0.00003
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met) rs750019452 0.00003
NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp) rs746485916 0.00003
NM_000053.4(ATP7B):c.3426G>C (p.Gln1142His) rs778749563 0.00003
NM_000053.4(ATP7B):c.3818C>T (p.Pro1273Leu) rs758355520 0.00003
NM_000053.4(ATP7B):c.2072G>T (p.Gly691Val) rs1555291801 0.00002
NM_000053.4(ATP7B):c.2575+5G>C rs551030054 0.00002
NM_000053.4(ATP7B):c.2828G>A (p.Gly943Asp) rs779323689 0.00002
NM_000053.4(ATP7B):c.2984T>C (p.Val995Ala) rs777791532 0.00002
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr) rs201497300 0.00002
NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val) rs371840514 0.00002
NM_000053.4(ATP7B):c.3505A>G (p.Met1169Val) rs749085322 0.00002
NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys) rs756029120 0.00002
NM_000053.4(ATP7B):c.3694A>C (p.Thr1232Pro) rs568009639 0.00002
NM_000053.4(ATP7B):c.588C>A (p.Asp196Glu) rs756718353 0.00002
NM_000053.4(ATP7B):c.676C>T (p.Arg226Trp) rs749626601 0.00002
NM_000053.4(ATP7B):c.1285+2T>A rs759749626 0.00001
NM_000053.4(ATP7B):c.1708-5T>G rs770829226 0.00001
NM_000053.4(ATP7B):c.1772G>A (p.Gly591Asp) rs797045402 0.00001
NM_000053.4(ATP7B):c.1782del (p.Thr593_Tyr594insTer) rs780327716 0.00001
NM_000053.4(ATP7B):c.1846C>T (p.Arg616Trp) rs374172791 0.00001
NM_000053.4(ATP7B):c.1946+6T>C rs751287778 0.00001
NM_000053.4(ATP7B):c.2000T>A (p.Leu667Ter) rs1474837260 0.00001
NM_000053.4(ATP7B):c.2108G>A (p.Cys703Tyr) rs767218895 0.00001
NM_000053.4(ATP7B):c.2122-8T>G rs193922102 0.00001
NM_000053.4(ATP7B):c.2131G>T (p.Gly711Trp) rs1394999756 0.00001
NM_000053.4(ATP7B):c.2222dup (p.Tyr741Ter) rs1180133690 0.00001
NM_000053.4(ATP7B):c.2267C>T (p.Ala756Val) rs769927137 0.00001
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=) rs372979339 0.00001
NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met) rs121907997 0.00001
NM_000053.4(ATP7B):c.2335T>G (p.Trp779Gly) rs751798708 0.00001
NM_000053.4(ATP7B):c.2355+4A>G rs776572343 0.00001
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe) rs751710854 0.00001
NM_000053.4(ATP7B):c.2485G>A (p.Asp829Asn) rs181388674 0.00001
NM_000053.4(ATP7B):c.2518C>A (p.Pro840Thr) rs1017756733 0.00001
NM_000053.4(ATP7B):c.2530A>T (p.Lys844Ter) rs780292767 0.00001
NM_000053.4(ATP7B):c.2549C>T (p.Thr850Ile) rs777629392 0.00001
NM_000053.4(ATP7B):c.254G>T (p.Gly85Val) rs786204643 0.00001
NM_000053.4(ATP7B):c.2575+1G>C rs766149114 0.00001
NM_000053.4(ATP7B):c.2606G>A (p.Gly869Glu) rs775553302 0.00001
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val) rs121907994 0.00001
NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser) rs28942076 0.00001
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp) rs774028495 0.00001
NM_000053.4(ATP7B):c.2924C>A (p.Ser975Tyr) rs778163447 0.00001
NM_000053.4(ATP7B):c.2953T>C (p.Cys985Arg) rs193922104 0.00001
NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu) rs201038679 0.00001
NM_000053.4(ATP7B):c.2998G>A (p.Gly1000Arg) rs751078884 0.00001
NM_000053.4(ATP7B):c.3060+5G>T rs1353373400 0.00001
NM_000053.4(ATP7B):c.3109C>T (p.Pro1037Ser) rs750891085 0.00001
NM_000053.4(ATP7B):c.3128T>C (p.Leu1043Pro) rs1412025509 0.00001
NM_000053.4(ATP7B):c.3140A>T (p.Asp1047Val) rs1395504465 0.00001
NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val) rs587783309 0.00001
NM_000053.4(ATP7B):c.3243+1G>A rs748819198 0.00001
NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter) rs753250853 0.00001
NM_000053.4(ATP7B):c.3282C>G (p.Phe1094Leu) rs1957397703 0.00001
NM_000053.4(ATP7B):c.3295G>A (p.Gly1099Ser) rs761632029 0.00001
NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr) rs560952220 0.00001
NM_000053.4(ATP7B):c.331C>T (p.Gln111Ter) rs774221179 0.00001
NM_000053.4(ATP7B):c.3436G>A (p.Val1146Met) rs1213481140 0.00001
NM_000053.4(ATP7B):c.3551T>C (p.Ile1184Thr) rs755817220 0.00001
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser) rs786204547 0.00001
NM_000053.4(ATP7B):c.3716T>G (p.Val1239Gly) rs374628199 0.00001
NM_000053.4(ATP7B):c.3741C>G (p.His1247Gln) rs767464491 0.00001
NM_000053.4(ATP7B):c.3784G>T (p.Val1262Phe) rs769484789 0.00001
NM_000053.4(ATP7B):c.3877G>A (p.Glu1293Lys) rs776300396 0.00001
NM_000053.4(ATP7B):c.3959G>C (p.Arg1320Thr) rs548512104 0.00001
NM_000053.4(ATP7B):c.399G>A (p.Trp133Ter) rs1033235740 0.00001
NM_000053.4(ATP7B):c.4022G>A (p.Gly1341Asp) rs779494870 0.00001
NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter) rs193922110 0.00001
NM_000053.4(ATP7B):c.4075A>G (p.Met1359Val) rs1956914257 0.00001
NM_000053.4(ATP7B):c.4088C>G (p.Ser1363Cys) rs776848753 0.00001
NM_000053.4(ATP7B):c.4150dup (p.Tyr1384fs) rs1555282316 0.00001
NM_000053.4(ATP7B):c.51+4A>T rs369488210 0.00001
NM_000053.4(ATP7B):c.52-1G>T rs1057517351 0.00001
NM_000053.4(ATP7B):c.562C>T (p.Gln188Ter) rs1412593296 0.00001
NC_000013.10:g.(52549305_52585422)_(52585631_?)del
NC_000013.10:g.(?_52511412)_(52513329_?)del
NC_000013.10:g.(?_52544712)_(52545071_?)del
NC_000013.11:g.(?_51937256)_(51939213_?)del
NM_000053.4(ATP7B):c.103A>T (p.Lys35Ter) rs1057516516
NM_000053.4(ATP7B):c.104_105insT (p.Lys35fs) rs1316032472
NM_000053.4(ATP7B):c.1063C>T (p.Gln355Ter) rs778490238
NM_000053.4(ATP7B):c.1155_1156del (p.Val387fs)
NM_000053.4(ATP7B):c.1158_1159del (p.Val387fs) rs1593787789
NM_000053.4(ATP7B):c.1172del (p.Ser391fs)
NM_000053.4(ATP7B):c.1221_1223delinsTATA (p.Ile408_Ser409insTer) rs1555296015
NM_000053.4(ATP7B):c.1286-1G>T rs2139975355
NM_000053.4(ATP7B):c.132del (p.Gly43_Tyr44insTer)
NM_000053.4(ATP7B):c.1337_1338insTT (p.Gln447fs) rs1057517141
NM_000053.4(ATP7B):c.1340_1343del (p.Gln447fs) rs1057517444
NM_000053.4(ATP7B):c.1360dup (p.Thr454fs)
NM_000053.4(ATP7B):c.1372G>T (p.Glu458Ter) rs1057516305
NM_000053.4(ATP7B):c.1374_1377del (p.Val459fs) rs1060499593
NM_000053.4(ATP7B):c.1389_1405del (p.Gly464fs) rs1593775055
NM_000053.4(ATP7B):c.1392dup (p.Arg465fs) rs1555295017
NM_000053.4(ATP7B):c.1397_1403del (p.Leu466fs)
NM_000053.4(ATP7B):c.1465A>T (p.Lys489Ter)
NM_000053.4(ATP7B):c.1470C>A (p.Cys490Ter) rs778675259
NM_000053.4(ATP7B):c.1475T>C (p.Leu492Ser) rs1566580253
NM_000053.4(ATP7B):c.1475del (p.Leu492fs)
NM_000053.4(ATP7B):c.1493C>T (p.Thr498Ile) rs2139962593
NM_000053.4(ATP7B):c.1497T>A (p.Cys499Ter)
NM_000053.4(ATP7B):c.1512dup (p.Asn505Ter) rs1057516418
NM_000053.4(ATP7B):c.1543+1G>A
NM_000053.4(ATP7B):c.1544-1G>A rs1951686649
NM_000053.4(ATP7B):c.1544-2A>C rs1555294398
NM_000053.4(ATP7B):c.1568T>A (p.Leu523Ter) rs773385516
NM_000053.4(ATP7B):c.1580del (p.Lys527fs)
NM_000053.4(ATP7B):c.1594T>C (p.Tyr532His)
NM_000053.4(ATP7B):c.1595A>G (p.Tyr532Cys) rs375071383
NM_000053.4(ATP7B):c.1596T>A (p.Tyr532Ter) rs1951683498
NM_000053.4(ATP7B):c.1616C>T (p.Pro539Leu) rs572122562
NM_000053.4(ATP7B):c.1639C>T (p.Gln547Ter) rs996419100
NM_000053.4(ATP7B):c.1658C>A (p.Ala553Glu) rs1179062239
NM_000053.4(ATP7B):c.1675dup (p.Tyr559fs)
NM_000053.4(ATP7B):c.167dup (p.Val57fs)
NM_000053.4(ATP7B):c.1699G>T (p.Glu567Ter) rs1454088856
NM_000053.4(ATP7B):c.1700_1707+16del rs1555294199
NM_000053.4(ATP7B):c.1707+1G>A rs377001615
NM_000053.4(ATP7B):c.1708-2A>G rs1057517024
NM_000053.4(ATP7B):c.1708-34G>A rs780389157
NM_000053.4(ATP7B):c.1716del (p.Gly572_Met573insTer) rs1057516893
NM_000053.4(ATP7B):c.1727_1728del (p.Ala576fs)
NM_000053.4(ATP7B):c.1738del (p.His580fs)
NM_000053.4(ATP7B):c.1739del (p.His580fs) rs1555293357
NM_000053.4(ATP7B):c.1740del (p.His580fs) rs2139777345
NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs) rs753962912
NM_000053.4(ATP7B):c.174dup (p.Thr59fs) rs1057516561
NM_000053.4(ATP7B):c.1781_1797del (p.Tyr594fs)
NM_000053.4(ATP7B):c.1811C>A (p.Ala604Asp) rs959916899
NM_000053.4(ATP7B):c.1819A>T (p.Lys607Ter) rs1951466736
NM_000053.4(ATP7B):c.1820dup (p.Phe608fs) rs1057516940
NM_000053.4(ATP7B):c.1841G>A (p.Gly614Asp) rs1951465769
NM_000053.4(ATP7B):c.1869+1G>A
NM_000053.4(ATP7B):c.1869+5_1869+8del rs2139767189
NM_000053.4(ATP7B):c.1870-1G>C
NM_000053.4(ATP7B):c.1908dup (p.Asn637fs)
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.1946+1G>A
NM_000053.4(ATP7B):c.1946+1del rs1958764803
NM_000053.4(ATP7B):c.1947-19T>A rs1593733949
NM_000053.4(ATP7B):c.1947-1G>C rs1405260211
NM_000053.4(ATP7B):c.1954A>T (p.Lys652Ter)
NM_000053.4(ATP7B):c.1963del (p.Leu655fs) rs2139612433
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.2011_2012dup (p.Met671fs) rs1555291870
NM_000053.4(ATP7B):c.2035del (p.His679fs) rs786204764
NM_000053.4(ATP7B):c.2038C>T (p.Gln680Ter) rs1555291848
NM_000053.4(ATP7B):c.2071G>A (p.Gly691Arg) rs121908001
NM_000053.4(ATP7B):c.2078C>A (p.Ser693Tyr) rs1212479289
NM_000053.4(ATP7B):c.2078C>G (p.Ser693Cys) rs1212479289
NM_000053.4(ATP7B):c.208C>T (p.Gln70Ter)
NM_000053.4(ATP7B):c.2097_2100del (p.Phe699fs) rs1555291784
NM_000053.4(ATP7B):c.2108G>T (p.Cys703Phe)
NM_000053.4(ATP7B):c.2120A>G (p.Gln707Arg)
NM_000053.4(ATP7B):c.2121+1G>A rs751235573
NM_000053.4(ATP7B):c.2121+3A>G rs1248002612
NM_000053.4(ATP7B):c.2122-1G>A rs1319653818
NM_000053.4(ATP7B):c.2122-3C>T rs1593726901
NM_000053.4(ATP7B):c.2129G>C (p.Gly710Ala) rs1555291285
NM_000053.4(ATP7B):c.2131G>A (p.Gly711Arg) rs1394999756
NM_000053.4(ATP7B):c.2132G>A (p.Gly711Glu) rs2139545313
NM_000053.4(ATP7B):c.2152del (p.Ala718fs)
NM_000053.4(ATP7B):c.2152delinsTCC (p.Ala718fs)
NM_000053.4(ATP7B):c.2157C>A (p.Tyr719Ter) rs1057516380
NM_000053.4(ATP7B):c.2165dup (p.Arg723fs) rs768729972
NM_000053.4(ATP7B):c.2182A>G (p.Asn728Asp)
NM_000053.4(ATP7B):c.2185A>G (p.Met729Val)
NM_000053.4(ATP7B):c.218_219del (p.Val73fs)
NM_000053.4(ATP7B):c.220A>T (p.Lys74Ter) rs1952035259
NM_000053.4(ATP7B):c.2217dup (p.Ala740fs) rs1555291207
NM_000053.4(ATP7B):c.2230T>C (p.Ser744Pro) rs1593726081
NM_000053.4(ATP7B):c.2233_2234del (p.Leu745fs) rs1555291195
NM_000053.4(ATP7B):c.2241C>T (p.Ile747=) rs757991922
NM_000053.4(ATP7B):c.2241_2242insAG (p.Leu748fs)
NM_000053.4(ATP7B):c.2279C>T (p.Pro760Leu) rs766907687
NM_000053.4(ATP7B):c.2286dup (p.Phe763fs)
NM_000053.4(ATP7B):c.2294A>G (p.Asp765Gly) rs1555291147
NM_000053.4(ATP7B):c.2295C>G (p.Asp765Glu) rs774769813
NM_000053.4(ATP7B):c.2297C>G (p.Thr766Arg) rs121907997
NM_000053.4(ATP7B):c.229G>T (p.Glu77Ter) rs1952034577
NM_000053.4(ATP7B):c.2300C>G (p.Pro767Arg) rs776668666
NM_000053.4(ATP7B):c.2303C>G (p.Pro768Arg) rs1057516844
NM_000053.4(ATP7B):c.2303C>T (p.Pro768Leu) rs1057516844
NM_000053.4(ATP7B):c.2307G>T (p.Met769Ile)
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly) rs137853284
NM_000053.4(ATP7B):c.2337G>C (p.Trp779Cys) rs137853282
NM_000053.4(ATP7B):c.2355+1G>A
NM_000053.4(ATP7B):c.2356-1G>A rs1555290925
NM_000053.4(ATP7B):c.2356-1G>C rs1555290925
NM_000053.4(ATP7B):c.2356-2A>G rs2139505830
NM_000053.4(ATP7B):c.2356-2A>T
NM_000053.4(ATP7B):c.2388_2389del (p.Met796fs) rs2139503242
NM_000053.4(ATP7B):c.2428G>T (p.Glu810Ter) rs770020484
NM_000053.4(ATP7B):c.2438_2440delinsAT (p.Leu813fs) rs1555290810
NM_000053.4(ATP7B):c.2447+1del rs1057516732
NM_000053.4(ATP7B):c.2447+2T>G rs1555290800
NM_000053.4(ATP7B):c.2447+5G>T
NM_000053.4(ATP7B):c.2485G>C (p.Asp829His)
NM_000053.4(ATP7B):c.2486A>T (p.Asp829Val)
NM_000053.4(ATP7B):c.2506G>A (p.Gly836Arg) rs2139228853
NM_000053.4(ATP7B):c.2507G>A (p.Gly836Glu) rs773809011
NM_000053.4(ATP7B):c.2512_2513del (p.Lys838fs)
NM_000053.4(ATP7B):c.2513del (p.Lys838fs) rs777362050
NM_000053.4(ATP7B):c.2527G>A (p.Gly843Arg)
NM_000053.4(ATP7B):c.254G>C (p.Gly85Ala)
NM_000053.4(ATP7B):c.2558A>G (p.Asp853Gly) rs752634617
NM_000053.4(ATP7B):c.2561A>G (p.Glu854Gly)
NM_000053.4(ATP7B):c.2570T>C (p.Ile857Thr) rs1057520235
NM_000053.4(ATP7B):c.2572A>G (p.Thr858Ala) rs2139220914
NM_000053.4(ATP7B):c.2575+1G>A rs766149114
NM_000053.4(ATP7B):c.2576-2A>G rs757265256
NM_000053.4(ATP7B):c.2614_2615del (p.Val872fs) rs2139209584
NM_000053.4(ATP7B):c.2620G>C (p.Ala874Pro) rs376355660
NM_000053.4(ATP7B):c.2662A>C (p.Thr888Pro) rs1455758826
NM_000053.4(ATP7B):c.2662A>T (p.Thr888Ser) rs1455758826
NM_000053.4(ATP7B):c.2663C>T (p.Thr888Ile)
NM_000053.4(ATP7B):c.2668G>T (p.Val890Leu)
NM_000053.4(ATP7B):c.2673del (p.Asn892fs)
NM_000053.4(ATP7B):c.2680A>G (p.Thr894Ala)
NM_000053.4(ATP7B):c.2681C>T (p.Thr894Ile) rs1340729837
NM_000053.4(ATP7B):c.2687del (p.Leu896fs)
NM_000053.4(ATP7B):c.2697_2723del (p.Ile899_Gln907del) rs2139201690
NM_000053.4(ATP7B):c.2730+1G>A rs1057516425
NM_000053.4(ATP7B):c.2730+2T>A rs2139201007
NM_000053.4(ATP7B):c.2730+2T>C rs2139201007
NM_000053.4(ATP7B):c.2743C>T (p.Gln915Ter) rs1555288479
NM_000053.4(ATP7B):c.2752G>A (p.Asp918Asn) rs540935874
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp) rs121907993
NM_000053.4(ATP7B):c.2762G>T (p.Ser921Ile)
NM_000053.4(ATP7B):c.2784CAT[2] (p.Ile930del) rs1228359983
NM_000053.4(ATP7B):c.2810del (p.Val937fs) rs1057516643
NM_000053.4(ATP7B):c.2817G>T (p.Trp939Cys) rs1057517310
NM_000053.4(ATP7B):c.2826_2832del (p.Gly943fs) rs1555288385
NM_000053.4(ATP7B):c.2827G>T (p.Gly943Cys) rs28942076
NM_000053.4(ATP7B):c.2866-2del rs1593681941
NM_000053.4(ATP7B):c.2885_2895del (p.Ser962fs)
NM_000053.4(ATP7B):c.2906G>C (p.Arg969Pro) rs121907996
NM_000053.4(ATP7B):c.2915_2916delinsA (p.Phe972fs)
NM_000053.4(ATP7B):c.291dup (p.Ala98fs)
NM_000053.4(ATP7B):c.2924C>T (p.Ser975Phe) rs778163447
NM_000053.4(ATP7B):c.2939G>A (p.Cys980Tyr) rs1038582488
NM_000053.4(ATP7B):c.2947_2950del (p.Cys983fs)
NM_000053.4(ATP7B):c.2949C>A (p.Cys983Ter) rs1957660801
NM_000053.4(ATP7B):c.2957C>T (p.Ser986Phe)
NM_000053.4(ATP7B):c.2962G>C (p.Gly988Arg) rs199623434
NM_000053.4(ATP7B):c.2963G>A (p.Gly988Glu) rs1057518867
NM_000053.4(ATP7B):c.2963G>T (p.Gly988Val)
NM_000053.4(ATP7B):c.2964del (p.Leu989fs)
NM_000053.4(ATP7B):c.2971A>G (p.Thr991Ala) rs1476409946
NM_000053.4(ATP7B):c.2976del (p.Thr993fs)
NM_000053.4(ATP7B):c.2986A>G (p.Met996Val)
NM_000053.4(ATP7B):c.2987del (p.Met996fs) rs2139054241
NM_000053.4(ATP7B):c.2999G>T (p.Gly1000Val)
NM_000053.4(ATP7B):c.3007G>C (p.Ala1003Pro) rs201497300
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val) rs775055397
NM_000053.4(ATP7B):c.3011A>C (p.Gln1004Pro) rs587783307
NM_000053.4(ATP7B):c.3027_3028del (p.Lys1010fs)
NM_000053.4(ATP7B):c.3029A>C (p.Lys1010Thr) rs747584649
NM_000053.4(ATP7B):c.3029A>G (p.Lys1010Arg) rs747584649
NM_000053.4(ATP7B):c.3036dup (p.Lys1013fs) rs1555287300
NM_000053.4(ATP7B):c.3041C>T (p.Pro1014Leu) rs2139048200
NM_000053.4(ATP7B):c.3044T>C (p.Leu1015Pro)
NM_000053.4(ATP7B):c.3053C>A (p.Ala1018Glu)
NM_000053.4(ATP7B):c.3059A>G (p.Lys1020Arg) rs2139046115
NM_000053.4(ATP7B):c.3061-12T>A rs1045194246
NM_000053.4(ATP7B):c.3061-3C>A
NM_000053.4(ATP7B):c.3062T>A (p.Ile1021Lys) rs949421614
NM_000053.4(ATP7B):c.306T>A (p.Tyr102Ter)
NM_000053.4(ATP7B):c.3074T>A (p.Met1025Lys) rs1555286633
NM_000053.4(ATP7B):c.3074T>G (p.Met1025Arg) rs1555286633
NM_000053.4(ATP7B):c.3086C>T (p.Thr1029Ile) rs1555286628
NM_000053.4(ATP7B):c.3088G>A (p.Gly1030Ser) rs1957518268
NM_000053.4(ATP7B):c.3089G>T (p.Gly1030Val)
NM_000053.4(ATP7B):c.3104G>A (p.Gly1035Asp)
NM_000053.4(ATP7B):c.3104G>T (p.Gly1035Val) rs753594031
NM_000053.4(ATP7B):c.3122G>C (p.Arg1041Pro)
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.3157dup (p.Leu1053fs) rs1555286522
NM_000053.4(ATP7B):c.3163A>T (p.Lys1055Ter) rs1957512345
NM_000053.4(ATP7B):c.3168del (p.Leu1057fs) rs2138950870
NM_000053.4(ATP7B):c.3190G>A (p.Glu1064Lys) rs376910645
NM_000053.4(ATP7B):c.3190dup (p.Glu1064fs)
NM_000053.4(ATP7B):c.3200G>A (p.Ser1067Asn)
NM_000053.4(ATP7B):c.3201T>G (p.Ser1067Arg) rs2138947313
NM_000053.4(ATP7B):c.3203A>G (p.Glu1068Gly) rs1555286478
NM_000053.4(ATP7B):c.3206A>T (p.His1069Leu)
NM_000053.4(ATP7B):c.3227C>T (p.Thr1076Ile)
NM_000053.4(ATP7B):c.3236G>T (p.Cys1079Phe) rs1064797072
NM_000053.4(ATP7B):c.3237T>A (p.Cys1079Ter) rs1957506216
NM_000053.4(ATP7B):c.3243+2T>C rs1593671769
NM_000053.4(ATP7B):c.3244-2A>G rs786204584
NM_000053.4(ATP7B):c.3247C>T (p.Leu1083Phe) rs1286080173
NM_000053.4(ATP7B):c.3258_3259del (p.Glu1086fs)
NM_000053.4(ATP7B):c.3265G>T (p.Gly1089Ter)
NM_000053.4(ATP7B):c.3266G>A (p.Gly1089Glu) rs1555285911
NM_000053.4(ATP7B):c.3284A>C (p.Gln1095Pro) rs1555285891
NM_000053.4(ATP7B):c.3284A>G (p.Gln1095Arg)
NM_000053.4(ATP7B):c.3296G>A (p.Gly1099Asp)
NM_000053.4(ATP7B):c.3298_3300delinsAGTGCCAGGCAGTGCCA (p.Cys1100fs) rs1566468816
NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg) rs786204483
NM_000053.4(ATP7B):c.3301_3302insCCAGGCAGTGCCAG (p.Gly1101fs) rs1566468784
NM_000053.4(ATP7B):c.3304A>T (p.Ile1102Phe) rs2138854011
NM_000053.4(ATP7B):c.3311G>T (p.Cys1104Phe)
NM_000053.4(ATP7B):c.3312C>A (p.Cys1104Ter)
NM_000053.4(ATP7B):c.3313A>T (p.Lys1105Ter) rs1957395448
NM_000053.4(ATP7B):c.3316G>C (p.Val1106Leu) rs541208827
NM_000053.4(ATP7B):c.3317T>A (p.Val1106Asp) rs775541743
NM_000053.4(ATP7B):c.3350_3353del (p.Glu1117fs) rs1555285830
NM_000053.4(ATP7B):c.3412+1G>A rs1957388064
NM_000053.4(ATP7B):c.3412+1G>C rs1957388064
NM_000053.4(ATP7B):c.3413-20C>G
NM_000053.4(ATP7B):c.3437T>C (p.Val1146Ala) rs2138787759
NM_000053.4(ATP7B):c.3437_3438del (p.Val1146fs)
NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala) rs1566462533
NM_000053.4(ATP7B):c.3449del (p.Asn1150fs) rs1555285380
NM_000053.4(ATP7B):c.3452G>A (p.Arg1151His) rs377297166
NM_000053.4(ATP7B):c.3458G>A (p.Trp1153Ter)
NM_000053.4(ATP7B):c.3463_3464del (p.Arg1155fs)
NM_000053.4(ATP7B):c.3506T>C (p.Met1169Thr) rs1555285311
NM_000053.4(ATP7B):c.3523A>T (p.Lys1175Ter) rs995516204
NM_000053.4(ATP7B):c.3524_3528del (p.Lys1175fs)
NM_000053.4(ATP7B):c.3529C>T (p.Gln1177Ter) rs1057516479
NM_000053.4(ATP7B):c.3532A>C (p.Thr1178Pro)
NM_000053.4(ATP7B):c.3532A>G (p.Thr1178Ala) rs1387431334
NM_000053.4(ATP7B):c.3543_3551delinsTCTGC (p.Val1182fs)
NM_000053.4(ATP7B):c.3545dup (p.Ala1183fs)
NM_000053.4(ATP7B):c.3547G>A (p.Ala1183Thr) rs2138775370
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly) rs587783315
NM_000053.4(ATP7B):c.3550dup (p.Ile1184fs)
NM_000053.4(ATP7B):c.3552dup (p.Asp1185Ter) rs748924063
NM_000053.4(ATP7B):c.3556+1G>T rs184388696
NM_000053.4(ATP7B):c.3557-1G>A
NM_000053.4(ATP7B):c.3557-1G>C rs2138674428
NM_000053.4(ATP7B):c.3562C>T (p.Leu1188Phe)
NM_000053.4(ATP7B):c.3583_3584del (p.Ala1195fs)
NM_000053.4(ATP7B):c.3584C>T (p.Ala1195Val) rs2138671758
NM_000053.4(ATP7B):c.3598C>T (p.Gln1200Ter) rs786204658
NM_000053.4(ATP7B):c.3627_3632del (p.Gln1210_Ser1211del) rs2138667313
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.365_366delinsGGGCTTCGAA (p.Glu122fs)
NM_000053.4(ATP7B):c.3662G>A (p.Gly1221Glu) rs1486594906
NM_000053.4(ATP7B):c.3664del (p.Asp1222fs) rs886042519
NM_000053.4(ATP7B):c.3665del (p.Asp1222fs)
NM_000053.4(ATP7B):c.3688A>C (p.Ile1230Leu) rs200911496
NM_000053.4(ATP7B):c.3693_3697delinsTCTGGTACATTAACATTAA (p.Thr1232_Gln1233delinsLeuValHisTer) rs1957151127
NM_000053.4(ATP7B):c.3693delinsTCTGGTACATTAACATTA (p.Ala1231_Thr1232insLeuValHisTer) rs1957151787
NM_000053.4(ATP7B):c.3700-1G>A rs1555284021
NM_000053.4(ATP7B):c.3704G>A (p.Gly1235Asp)
NM_000053.4(ATP7B):c.3707del (p.Ile1236fs)
NM_000053.4(ATP7B):c.3722C>T (p.Ala1241Val) rs1555283994
NM_000053.4(ATP7B):c.3741_3742del (p.His1247fs)
NM_000053.4(ATP7B):c.3752del (p.Lys1251fs) rs2138586206
NM_000053.4(ATP7B):c.3757C>T (p.Gln1253Ter)
NM_000053.4(ATP7B):c.3767A>G (p.Gln1256Arg) rs1555283946
NM_000053.4(ATP7B):c.3772_3775dup (p.Gly1259fs)
NM_000053.4(ATP7B):c.3782_3791del (p.Lys1261fs)
NM_000053.4(ATP7B):c.3800A>C (p.Asp1267Ala) rs1555283916
NM_000053.4(ATP7B):c.3800del (p.Asp1267fs) rs1057516740
NM_000053.4(ATP7B):c.3809A>T (p.Asn1270Ile) rs121907990
NM_000053.4(ATP7B):c.3809del (p.Asn1270fs) rs1555283900
NM_000053.4(ATP7B):c.3815C>A (p.Ser1272Tyr)
NM_000053.4(ATP7B):c.3818C>A (p.Pro1273Gln) rs758355520
NM_000053.4(ATP7B):c.3820G>A (p.Ala1274Thr) rs2138578550
NM_000053.4(ATP7B):c.3833C>T (p.Ala1278Val) rs1375884723
NM_000053.4(ATP7B):c.3836A>G (p.Asp1279Gly) rs778914828
NM_000053.4(ATP7B):c.3836dup (p.Asp1279fs)
NM_000053.4(ATP7B):c.3862A>G (p.Thr1288Ala) rs1257330000
NM_000053.4(ATP7B):c.3863C>G (p.Thr1288Arg) rs373748155
NM_000053.4(ATP7B):c.3884C>T (p.Ala1295Val) rs1340942427
NM_000053.4(ATP7B):c.3887A>G (p.Asp1296Gly) rs1593645393
NM_000053.4(ATP7B):c.388_389dup (p.Ala131fs) rs1057517384
NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe) rs749472361
NM_000053.4(ATP7B):c.3904-1G>A
NM_000053.4(ATP7B):c.3904-2del rs1957032734
NM_000053.4(ATP7B):c.3912G>T (p.Leu1304Phe)
NM_000053.4(ATP7B):c.3912_3913delinsTT (p.Leu1304Phe) rs1555283732
NM_000053.4(ATP7B):c.3935_3936del (p.His1312fs)
NM_000053.4(ATP7B):c.3938T>C (p.Leu1313Pro)
NM_000053.4(ATP7B):c.3942_3943del (p.Lys1315fs) rs1057516227
NM_000053.4(ATP7B):c.3948del (p.Thr1317fs) rs1057516228
NM_000053.4(ATP7B):c.3958A>G (p.Arg1320Gly) rs2138561490
NM_000053.4(ATP7B):c.3960G>C (p.Arg1320Ser) rs778732681
NM_000053.4(ATP7B):c.3963_3964dup (p.Arg1322fs) rs2138560807
NM_000053.4(ATP7B):c.3971A>G (p.Asn1324Ser) rs760285767
NM_000053.4(ATP7B):c.3990_3993del (p.Tyr1331fs) rs1566441447
NM_000053.4(ATP7B):c.4007T>C (p.Ile1336Thr)
NM_000053.4(ATP7B):c.4014T>A (p.Ile1338=)
NM_000053.4(ATP7B):c.4021G>A (p.Gly1341Ser) rs587783317
NM_000053.4(ATP7B):c.4022-2A>C rs1555282816
NM_000053.4(ATP7B):c.4064G>T (p.Gly1355Val) rs1305262063
NM_000053.4(ATP7B):c.4084T>G (p.Ser1362Ala)
NM_000053.4(ATP7B):c.4088C>T (p.Ser1363Phe) rs776848753
NM_000053.4(ATP7B):c.4112T>C (p.Leu1371Pro) rs1444841250
NM_000053.4(ATP7B):c.4118T>C (p.Leu1373Pro) rs780811477
NM_000053.4(ATP7B):c.4124+1G>A
NM_000053.4(ATP7B):c.4124+1G>T
NM_000053.4(ATP7B):c.4124+5G>A rs1321980462
NM_000053.4(ATP7B):c.4125-1G>C rs1293549383
NM_000053.4(ATP7B):c.4125-2A>G rs1555282347
NM_000053.4(ATP7B):c.413T>A (p.Leu138Ter)
NM_000053.4(ATP7B):c.416dup (p.Ala140fs)
NM_000053.4(ATP7B):c.4195C>T (p.Gln1399Ter) rs2138407151
NM_000053.4(ATP7B):c.4195del (p.Gln1399fs) rs886041336
NM_000053.4(ATP7B):c.4198del (p.Val1400fs)
NM_000053.4(ATP7B):c.4229G>A (p.Trp1410Ter)
NM_000053.4(ATP7B):c.4242del (p.Arg1415fs) rs1057517191
NM_000053.4(ATP7B):c.4283dup (p.Ser1429fs) rs1555282191
NM_000053.4(ATP7B):c.4339dup (p.Asp1447fs) rs1345677703
NM_000053.4(ATP7B):c.482_483delinsA (p.Ile161fs)
NM_000053.4(ATP7B):c.505C>T (p.Gln169Ter) rs1952020122
NM_000053.4(ATP7B):c.51dup rs1954023351
NM_000053.4(ATP7B):c.52-1G>A
NM_000053.4(ATP7B):c.52-2A>G
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs) rs558037268
NM_000053.4(ATP7B):c.525del (p.Val176fs) rs558037268
NM_000053.4(ATP7B):c.528del (p.Ser177fs) rs2140098691
NM_000053.4(ATP7B):c.531_535del (p.Leu178fs)
NM_000053.4(ATP7B):c.532_535del (p.Leu178fs) rs1952018459
NM_000053.4(ATP7B):c.533_534del (p.Leu178fs)
NM_000053.4(ATP7B):c.590_591del (p.Leu197fs)
NM_000053.4(ATP7B):c.650T>G (p.Leu217Ter) rs1555296472
NM_000053.4(ATP7B):c.738dup (p.Glu247Ter) rs1555296414
NM_000053.4(ATP7B):c.763dup (p.His255fs)
NM_000053.4(ATP7B):c.778dup (p.Gln260fs) rs786204570
NM_000053.4(ATP7B):c.782_783del (p.Leu261fs)
NM_000053.4(ATP7B):c.804dup (p.Lys269Ter) rs1952004098
NM_000053.4(ATP7B):c.839del (p.Gly280fs)
NM_000053.4(ATP7B):c.841C>T (p.Gln281Ter) rs1555296356
NM_000053.4(ATP7B):c.841del (p.Gln281fs)
NM_000053.4(ATP7B):c.86G>A (p.Trp29Ter) rs577406734
NM_000053.4(ATP7B):c.881del (p.Asn294fs)
NM_000053.4(ATP7B):c.956del (p.Pro319fs) rs753674382
NM_000053.4(ATP7B):c.970A>T (p.Lys324Ter) rs911589273

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