ClinVar Miner

List of variants reported as uncertain significance for Wilson disease by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 449
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HGVS dbSNP gnomAD frequency
NM_000053.4(ATP7B):c.98T>C (p.Met33Thr) rs184868522 0.00064
NM_000053.4(ATP7B):c.1922T>C (p.Leu641Ser) rs186924074 0.00059
NM_000053.4(ATP7B):c.1555G>A (p.Val519Met) rs192957846 0.00041
NM_000053.4(ATP7B):c.2730G>A (p.Lys910=) rs80145681 0.00037
NM_000053.4(ATP7B):c.2921C>T (p.Thr974Met) rs201061621 0.00032
NM_000053.4(ATP7B):c.3368C>T (p.Pro1123Leu) rs146623472 0.00026
NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser) rs189601972 0.00025
NM_000053.4(ATP7B):c.1628C>G (p.Ala543Gly) rs777096464 0.00016
NM_000053.4(ATP7B):c.406A>T (p.Arg136Trp) rs557577836 0.00016
NM_000053.4(ATP7B):c.1621G>A (p.Glu541Lys) rs187046823 0.00014
NM_000053.4(ATP7B):c.1195G>A (p.Ala399Thr) rs370203816 0.00011
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.4163C>T (p.Ala1388Val) rs371458882 0.00010
NM_000053.4(ATP7B):c.1829C>T (p.Pro610Leu) rs368381292 0.00009
NM_000053.4(ATP7B):c.482T>C (p.Ile161Thr) rs531199827 0.00009
NM_000053.4(ATP7B):c.2323G>T (p.Ala775Ser) rs535217574 0.00008
NM_000053.4(ATP7B):c.1415C>T (p.Pro472Leu) rs771789585 0.00007
NM_000053.4(ATP7B):c.2806T>G (p.Leu936Val) rs367855110 0.00007
NM_000053.4(ATP7B):c.1145C>G (p.Ser382Cys) rs774102085 0.00006
NM_000053.4(ATP7B):c.2191G>A (p.Val731Met) rs762746959 0.00006
NM_000053.4(ATP7B):c.2479C>T (p.Arg827Trp) rs539585071 0.00006
NM_000053.4(ATP7B):c.3671G>T (p.Arg1224Leu) rs532177115 0.00006
NM_000053.4(ATP7B):c.4271A>G (p.Tyr1424Cys) rs372435824 0.00006
NM_000053.4(ATP7B):c.589C>T (p.Leu197Phe) rs745909234 0.00006
NM_000053.4(ATP7B):c.664A>G (p.Ile222Val) rs200866801 0.00006
NM_000053.4(ATP7B):c.3376C>T (p.His1126Tyr) rs373698024 0.00005
NM_000053.4(ATP7B):c.4318C>T (p.Arg1440Trp) rs543334965 0.00005
NM_000053.4(ATP7B):c.814G>A (p.Val272Ile) rs771501259 0.00005
NM_000053.4(ATP7B):c.1258A>G (p.Met420Val) rs1390574533 0.00004
NM_000053.4(ATP7B):c.133G>A (p.Glu45Lys) rs777504965 0.00004
NM_000053.4(ATP7B):c.1840G>T (p.Gly614Cys) rs376565432 0.00004
NM_000053.4(ATP7B):c.3332G>A (p.Gly1111Asp) rs182659444 0.00004
NM_000053.4(ATP7B):c.3623C>T (p.Thr1208Met) rs370713752 0.00004
NM_000053.4(ATP7B):c.4070C>T (p.Ala1357Val) rs769949264 0.00004
NM_000053.4(ATP7B):c.111T>A (p.Phe37Leu) rs748698125 0.00003
NM_000053.4(ATP7B):c.1523G>C (p.Arg508Thr) rs578173224 0.00003
NM_000053.4(ATP7B):c.1760C>T (p.Thr587Met) rs757716093 0.00003
NM_000053.4(ATP7B):c.1873A>G (p.Ile625Val) rs778963465 0.00003
NM_000053.4(ATP7B):c.2046G>C (p.Met682Ile) rs370398602 0.00003
NM_000053.4(ATP7B):c.2391_2393del (p.Leu798del) rs772383075 0.00003
NM_000053.4(ATP7B):c.3106G>A (p.Val1036Ile) rs761147984 0.00003
NM_000053.4(ATP7B):c.314C>T (p.Ser105Leu) rs753236073 0.00003
NM_000053.4(ATP7B):c.3426G>C (p.Gln1142His) rs778749563 0.00003
NM_000053.4(ATP7B):c.3467G>A (p.Arg1156His) rs773917820 0.00003
NM_000053.4(ATP7B):c.3502G>A (p.Ala1168Thr) rs777879359 0.00003
NM_000053.4(ATP7B):c.3589G>A (p.Ala1197Thr) rs758025913 0.00003
NM_000053.4(ATP7B):c.550G>A (p.Val184Ile) rs199634511 0.00003
NM_000053.4(ATP7B):c.665T>C (p.Ile222Thr) rs373476328 0.00003
NM_000053.4(ATP7B):c.946G>A (p.Glu316Lys) rs768818151 0.00003
NM_000053.4(ATP7B):c.1297A>G (p.Thr433Ala) rs532864884 0.00002
NM_000053.4(ATP7B):c.1436C>A (p.Pro479Gln) rs983827093 0.00002
NM_000053.4(ATP7B):c.1460C>T (p.Pro487Leu) rs767312670 0.00002
NM_000053.4(ATP7B):c.1726G>A (p.Ala576Thr) rs747638528 0.00002
NM_000053.4(ATP7B):c.1820A>G (p.Lys607Arg) rs775080615 0.00002
NM_000053.4(ATP7B):c.2219C>T (p.Ala740Val) rs1406386204 0.00002
NM_000053.4(ATP7B):c.227T>C (p.Ile76Thr) rs747911411 0.00002
NM_000053.4(ATP7B):c.3505A>G (p.Met1169Val) rs749085322 0.00002
NM_000053.4(ATP7B):c.3749C>G (p.Ala1250Gly) rs372042739 0.00002
NM_000053.4(ATP7B):c.3845T>C (p.Val1282Ala) rs754148852 0.00002
NM_000053.4(ATP7B):c.389C>G (p.Ala130Gly) rs753045361 0.00002
NM_000053.4(ATP7B):c.4045G>C (p.Val1349Leu) rs374924611 0.00002
NM_000053.4(ATP7B):c.4232G>A (p.Arg1411Gln) rs769672624 0.00002
NM_000053.4(ATP7B):c.443G>A (p.Arg148Gln) rs571199682 0.00002
NM_000053.4(ATP7B):c.866A>C (p.Gln289Pro) rs751053970 0.00002
NM_000053.4(ATP7B):c.1049C>T (p.Pro350Leu) rs201855906 0.00001
NM_000053.4(ATP7B):c.1082C>T (p.Thr361Ile) rs1243293542 0.00001
NM_000053.4(ATP7B):c.1127C>T (p.Ser376Phe) rs762995412 0.00001
NM_000053.4(ATP7B):c.1129A>G (p.Ile377Val) rs775754066 0.00001
NM_000053.4(ATP7B):c.113C>A (p.Ala38Asp) rs935963471 0.00001
NM_000053.4(ATP7B):c.1142T>G (p.Ile381Ser) rs766943890 0.00001
NM_000053.4(ATP7B):c.1168A>G (p.Ile390Val) rs770903362 0.00001
NM_000053.4(ATP7B):c.1182G>C (p.Leu394Phe) rs201874048 0.00001
NM_000053.4(ATP7B):c.1187A>G (p.Glu396Gly) rs752745159 0.00001
NM_000053.4(ATP7B):c.1324G>T (p.Gly442Trp) rs776135837 0.00001
NM_000053.4(ATP7B):c.1407C>A (p.Asn469Lys) rs772709899 0.00001
NM_000053.4(ATP7B):c.157C>T (p.Pro53Ser) rs751956663 0.00001
NM_000053.4(ATP7B):c.1694A>G (p.Asn565Ser) rs778475094 0.00001
NM_000053.4(ATP7B):c.1862T>C (p.Ile621Thr) rs377670877 0.00001
NM_000053.4(ATP7B):c.2009A>G (p.Tyr670Cys) rs767305042 0.00001
NM_000053.4(ATP7B):c.2020C>A (p.Pro674Thr) rs1214560420 0.00001
NM_000053.4(ATP7B):c.20A>G (p.Gln7Arg) rs764340318 0.00001
NM_000053.4(ATP7B):c.2114T>G (p.Phe705Cys) rs756971846 0.00001
NM_000053.4(ATP7B):c.2138A>G (p.Tyr713Cys) rs756883878 0.00001
NM_000053.4(ATP7B):c.2236G>A (p.Val746Ile) rs746531706 0.00001
NM_000053.4(ATP7B):c.2320A>G (p.Ile774Val) rs778579276 0.00001
NM_000053.4(ATP7B):c.2551A>G (p.Met851Val) rs758360345 0.00001
NM_000053.4(ATP7B):c.2659G>A (p.Ala887Thr) rs768479687 0.00001
NM_000053.4(ATP7B):c.265A>G (p.Met89Val) rs372516400 0.00001
NM_000053.4(ATP7B):c.2715G>C (p.Glu905Asp) rs923227127 0.00001
NM_000053.4(ATP7B):c.2730+4A>G rs562091841 0.00001
NM_000053.4(ATP7B):c.2756G>A (p.Arg919Gln) rs574579593 0.00001
NM_000053.4(ATP7B):c.2797A>C (p.Thr933Pro) rs1555288410 0.00001
NM_000053.4(ATP7B):c.2858A>C (p.Tyr953Ser) rs767877891 0.00001
NM_000053.4(ATP7B):c.2953T>C (p.Cys985Arg) rs193922104 0.00001
NM_000053.4(ATP7B):c.3061A>G (p.Ile1021Val) rs776490710 0.00001
NM_000053.4(ATP7B):c.3170T>C (p.Leu1057Pro) rs373601229 0.00001
NM_000053.4(ATP7B):c.3243+4C>T rs779783859 0.00001
NM_000053.4(ATP7B):c.3550A>G (p.Ile1184Val) rs1057519121 0.00001
NM_000053.4(ATP7B):c.3580A>G (p.Ile1194Val) rs745679410 0.00001
NM_000053.4(ATP7B):c.35A>T (p.Glu12Val) rs374944498 0.00001
NM_000053.4(ATP7B):c.3637G>A (p.Gly1213Ser) rs745918596 0.00001
NM_000053.4(ATP7B):c.3695C>T (p.Thr1232Ile) rs1345433491 0.00001
NM_000053.4(ATP7B):c.3700G>T (p.Val1234Phe) rs193922108 0.00001
NM_000053.4(ATP7B):c.372C>A (p.Ser124Arg) rs1489384071 0.00001
NM_000053.4(ATP7B):c.3787G>A (p.Ala1263Thr) rs781514805 0.00001
NM_000053.4(ATP7B):c.3863C>T (p.Thr1288Met) rs373748155 0.00001
NM_000053.4(ATP7B):c.3874A>G (p.Ile1292Val) rs200718740 0.00001
NM_000053.4(ATP7B):c.3892G>A (p.Val1298Ile) rs753044473 0.00001
NM_000053.4(ATP7B):c.3964C>T (p.Arg1322Cys) rs534984209 0.00001
NM_000053.4(ATP7B):c.4022-3C>T rs531487054 0.00001
NM_000053.4(ATP7B):c.4030A>C (p.Met1344Leu) rs947156425 0.00001
NM_000053.4(ATP7B):c.4077G>T (p.Met1359Ile) rs759551693 0.00001
NM_000053.4(ATP7B):c.4102C>G (p.Leu1368Val) rs768467658 0.00001
NM_000053.4(ATP7B):c.4114C>G (p.Gln1372Glu) rs755584106 0.00001
NM_000053.4(ATP7B):c.4166A>G (p.His1389Arg) rs1170033995 0.00001
NM_000053.4(ATP7B):c.4288C>A (p.Leu1430Met) rs899484304 0.00001
NM_000053.4(ATP7B):c.4319G>A (p.Arg1440Gln) rs201483366 0.00001
NM_000053.4(ATP7B):c.4361T>C (p.Leu1454Pro) rs377492122 0.00001
NM_000053.4(ATP7B):c.4391A>C (p.Tyr1464Ser) rs770175421 0.00001
NM_000053.4(ATP7B):c.470G>T (p.Cys157Phe) rs551275663 0.00001
NM_000053.4(ATP7B):c.497G>A (p.Arg166Gln) rs150490315 0.00001
NM_000053.4(ATP7B):c.623C>T (p.Ala208Val) rs754738204 0.00001
NM_000053.4(ATP7B):c.671T>C (p.Ile224Thr) rs994646747 0.00001
NM_000053.4(ATP7B):c.769G>T (p.Val257Phe) rs373242731 0.00001
NM_000053.4(ATP7B):c.80G>A (p.Arg27His) rs371345946 0.00001
NM_000053.4(ATP7B):c.811T>C (p.Cys271Arg) rs1349622044 0.00001
NM_000053.4(ATP7B):c.829G>C (p.Glu277Gln) rs777846245 0.00001
NM_000053.4(ATP7B):c.911C>T (p.Ser304Phe) rs571080835 0.00001
NM_000053.4(ATP7B):c.968T>C (p.Phe323Ser) rs1186805034 0.00001
NM_000053.4(ATP7B):c.994G>A (p.Glu332Lys) rs761084829 0.00001
NC_000013.10:g.(?_51484213)_(52602726_?)dup
NC_000013.10:g.(?_52538988)_(52585473_?)dup
NC_000013.11:g.52011797C>T rs2140784828
NM_000053.4(ATP7B):c.1013A>G (p.His338Arg)
NM_000053.4(ATP7B):c.1022C>G (p.Ser341Cys)
NM_000053.4(ATP7B):c.1027T>C (p.Ser343Pro) rs2140077796
NM_000053.4(ATP7B):c.1028C>G (p.Ser343Cys)
NM_000053.4(ATP7B):c.1036C>T (p.Pro346Ser)
NM_000053.4(ATP7B):c.1058A>G (p.Gln353Arg) rs532441558
NM_000053.4(ATP7B):c.1065G>C (p.Gln355His)
NM_000053.4(ATP7B):c.106A>T (p.Ser36Cys)
NM_000053.4(ATP7B):c.107G>C (p.Ser36Thr)
NM_000053.4(ATP7B):c.10C>G (p.Gln4Glu)
NM_000053.4(ATP7B):c.1100G>A (p.Gly367Asp)
NM_000053.4(ATP7B):c.1104G>A (p.Met368Ile) rs1476381647
NM_000053.4(ATP7B):c.1105A>C (p.Thr369Pro)
NM_000053.4(ATP7B):c.1111G>A (p.Ala371Thr)
NM_000053.4(ATP7B):c.1138A>C (p.Met380Leu)
NM_000053.4(ATP7B):c.1153G>C (p.Glu385Gln) rs772069735
NM_000053.4(ATP7B):c.1155A>C (p.Glu385Asp) rs1593787847
NM_000053.4(ATP7B):c.1170A>G (p.Ile390Met)
NM_000053.4(ATP7B):c.1171T>C (p.Ser391Pro)
NM_000053.4(ATP7B):c.1174G>T (p.Val392Leu)
NM_000053.4(ATP7B):c.1186G>A (p.Glu396Lys) rs763051801
NM_000053.4(ATP7B):c.1188A>C (p.Glu396Asp)
NM_000053.4(ATP7B):c.1191G>T (p.Gly397=) rs561017302
NM_000053.4(ATP7B):c.1192A>G (p.Thr398Ala)
NM_000053.4(ATP7B):c.11A>C (p.Gln4Pro) rs781780227
NM_000053.4(ATP7B):c.1214C>T (p.Pro405Leu)
NM_000053.4(ATP7B):c.1216T>A (p.Ser406Thr) rs1801243
NM_000053.4(ATP7B):c.1231G>A (p.Glu411Lys) rs886050308
NM_000053.4(ATP7B):c.1233A>C (p.Glu411Asp) rs2140067189
NM_000053.4(ATP7B):c.127G>A (p.Gly43Ser) rs1255787917
NM_000053.4(ATP7B):c.1282T>G (p.Ser428Ala) rs1951967393
NM_000053.4(ATP7B):c.1285+3A>G
NM_000053.4(ATP7B):c.1285+4C>T
NM_000053.4(ATP7B):c.1285+5G>A
NM_000053.4(ATP7B):c.1285+5G>C rs370579582
NM_000053.4(ATP7B):c.1291T>G (p.Cys431Gly) rs145173864
NM_000053.4(ATP7B):c.1298C>G (p.Thr433Ser) rs763788226
NM_000053.4(ATP7B):c.131A>G (p.Tyr44Cys) rs1209726590
NM_000053.4(ATP7B):c.1354A>T (p.Thr452Ser)
NM_000053.4(ATP7B):c.1381C>T (p.Pro461Ser)
NM_000053.4(ATP7B):c.13G>A (p.Glu5Lys)
NM_000053.4(ATP7B):c.1427C>T (p.Ala476Val) rs1194712970
NM_000053.4(ATP7B):c.1441T>C (p.Ser481Pro)
NM_000053.4(ATP7B):c.1472T>G (p.Phe491Cys)
NM_000053.4(ATP7B):c.1495T>C (p.Cys499Arg) rs749968753
NM_000053.4(ATP7B):c.1496G>C (p.Cys499Ser)
NM_000053.4(ATP7B):c.1502C>T (p.Ser501Phe)
NM_000053.4(ATP7B):c.1518A>G (p.Ile506Met)
NM_000053.4(ATP7B):c.1520A>G (p.Glu507Gly)
NM_000053.4(ATP7B):c.1552T>C (p.Ser518Pro) rs2139897814
NM_000053.4(ATP7B):c.1568T>C (p.Leu523Ser)
NM_000053.4(ATP7B):c.1582G>A (p.Ala528Thr)
NM_000053.4(ATP7B):c.1600C>T (p.Pro534Ser)
NM_000053.4(ATP7B):c.160TCT[1] (p.Ser55del)
NM_000053.4(ATP7B):c.1614G>T (p.Gln538His)
NM_000053.4(ATP7B):c.1648G>A (p.Gly550Ser) rs964566440
NM_000053.4(ATP7B):c.1666A>C (p.Met556Leu)
NM_000053.4(ATP7B):c.1666A>G (p.Met556Val) rs200212457
NM_000053.4(ATP7B):c.1667T>C (p.Met556Thr)
NM_000053.4(ATP7B):c.1669G>A (p.Glu557Lys)
NM_000053.4(ATP7B):c.1670A>G (p.Glu557Gly)
NM_000053.4(ATP7B):c.169G>A (p.Val57Met)
NM_000053.4(ATP7B):c.1707+2dup rs781531824
NM_000053.4(ATP7B):c.1709T>C (p.Ile570Thr)
NM_000053.4(ATP7B):c.1727C>T (p.Ala576Val)
NM_000053.4(ATP7B):c.1741A>T (p.Asn581Tyr) rs756435919
NM_000053.4(ATP7B):c.176C>T (p.Thr59Ile)
NM_000053.4(ATP7B):c.1781A>C (p.Tyr594Ser)
NM_000053.4(ATP7B):c.1781A>G (p.Tyr594Cys)
NM_000053.4(ATP7B):c.1823T>C (p.Phe608Ser)
NM_000053.4(ATP7B):c.1828C>T (p.Pro610Ser) rs753069338
NM_000053.4(ATP7B):c.1839C>G (p.Ile613Met)
NM_000053.4(ATP7B):c.1840G>A (p.Gly614Ser)
NM_000053.4(ATP7B):c.1850A>G (p.Asp617Gly) rs371038011
NM_000053.4(ATP7B):c.1855A>G (p.Ile619Val)
NM_000053.4(ATP7B):c.1865T>C (p.Ile622Thr)
NM_000053.4(ATP7B):c.1869+4A>T rs2139767595
NM_000053.4(ATP7B):c.1869G>A (p.Glu623=) rs2139767805
NM_000053.4(ATP7B):c.1870-5A>G rs2139670020
NM_000053.4(ATP7B):c.1912G>T (p.Ala638Ser)
NM_000053.4(ATP7B):c.1921T>G (p.Leu641Val)
NM_000053.4(ATP7B):c.1931A>G (p.Lys644Arg)
NM_000053.4(ATP7B):c.1933A>G (p.Met645Val)
NM_000053.4(ATP7B):c.1933A>T (p.Met645Leu) rs749412315
NM_000053.4(ATP7B):c.1946+5G>A rs2139666211
NM_000053.4(ATP7B):c.1957T>G (p.Ser653Ala)
NM_000053.4(ATP7B):c.1964T>A (p.Leu655Gln) rs2139612314
NM_000053.4(ATP7B):c.1965G>T (p.Leu655=) rs574041847
NM_000053.4(ATP7B):c.2002A>G (p.Met668Val) rs587783301
NM_000053.4(ATP7B):c.2006T>C (p.Ile669Thr)
NM_000053.4(ATP7B):c.2012T>C (p.Met671Thr)
NM_000053.4(ATP7B):c.2039A>G (p.Gln680Arg)
NM_000053.4(ATP7B):c.2053G>A (p.Asp685Asn)
NM_000053.4(ATP7B):c.2060A>T (p.Asn687Ile)
NM_000053.4(ATP7B):c.2068C>A (p.Pro690Thr)
NM_000053.4(ATP7B):c.206G>T (p.Cys69Phe)
NM_000053.4(ATP7B):c.2121+4T>C
NM_000053.4(ATP7B):c.2122-3C>G rs1593726901
NM_000053.4(ATP7B):c.2140T>C (p.Phe714Leu) rs1372799442
NM_000053.4(ATP7B):c.2143T>C (p.Tyr715His) rs1555291272
NM_000053.4(ATP7B):c.215G>A (p.Cys72Tyr)
NM_000053.4(ATP7B):c.2175G>T (p.Arg725Ser) rs61733684
NM_000053.4(ATP7B):c.2194C>T (p.Leu732Phe) rs1958502647
NM_000053.4(ATP7B):c.2215A>G (p.Ile739Val)
NM_000053.4(ATP7B):c.2222A>C (p.Tyr741Ser)
NM_000053.4(ATP7B):c.2224G>A (p.Val742Ile) rs2139538547
NM_000053.4(ATP7B):c.2231C>G (p.Ser744Cys)
NM_000053.4(ATP7B):c.2261A>G (p.Glu754Gly)
NM_000053.4(ATP7B):c.2299C>A (p.Pro767Thr) rs2139531503
NM_000053.4(ATP7B):c.22A>G (p.Ile8Val)
NM_000053.4(ATP7B):c.2314G>A (p.Val772Met) rs554893410
NM_000053.4(ATP7B):c.2338C>G (p.Leu780Val) rs1593725352
NM_000053.4(ATP7B):c.2341G>A (p.Glu781Lys) rs1225673619
NM_000053.4(ATP7B):c.2349G>C (p.Leu783Phe) rs778848412
NM_000053.4(ATP7B):c.2355+5C>T
NM_000053.4(ATP7B):c.2359A>C (p.Lys787Gln)
NM_000053.4(ATP7B):c.2364C>T (p.Thr788=)
NM_000053.4(ATP7B):c.236G>A (p.Arg79Lys)
NM_000053.4(ATP7B):c.2371G>T (p.Ala791Ser)
NM_000053.4(ATP7B):c.2374C>G (p.Leu792Val)
NM_000053.4(ATP7B):c.2387T>A (p.Met796Lys)
NM_000053.4(ATP7B):c.2392C>T (p.Leu798Phe)
NM_000053.4(ATP7B):c.2413G>A (p.Val805Ile)
NM_000053.4(ATP7B):c.241T>A (p.Ser81Thr) rs1952034021
NM_000053.4(ATP7B):c.2426G>A (p.Gly809Asp)
NM_000053.4(ATP7B):c.2434A>C (p.Asn812His)
NM_000053.4(ATP7B):c.2435A>G (p.Asn812Ser)
NM_000053.4(ATP7B):c.2480G>A (p.Arg827Gln) rs368589213
NM_000053.4(ATP7B):c.2491G>A (p.Val831Ile)
NM_000053.4(ATP7B):c.2507G>A (p.Gly836Glu) rs773809011
NM_000053.4(ATP7B):c.2518C>T (p.Pro840Ser)
NM_000053.4(ATP7B):c.2546A>G (p.Asn849Ser)
NM_000053.4(ATP7B):c.2588C>T (p.Pro863Leu)
NM_000053.4(ATP7B):c.2621C>A (p.Ala874Glu) rs121907994
NM_000053.4(ATP7B):c.262A>G (p.Ser88Gly)
NM_000053.4(ATP7B):c.2641G>A (p.Gly881Ser) rs2139208285
NM_000053.4(ATP7B):c.2659G>C (p.Ala887Pro)
NM_000053.4(ATP7B):c.2674A>T (p.Asn892Tyr)
NM_000053.4(ATP7B):c.2675A>G (p.Asn892Ser)
NM_000053.4(ATP7B):c.2698G>A (p.Val900Met)
NM_000053.4(ATP7B):c.26C>T (p.Thr9Ile)
NM_000053.4(ATP7B):c.2720A>G (p.Gln907Arg)
NM_000053.4(ATP7B):c.2724G>A (p.Met908Ile) rs2139201407
NM_000053.4(ATP7B):c.2731G>A (p.Ala911Thr)
NM_000053.4(ATP7B):c.2732C>T (p.Ala911Val) rs1014184765
NM_000053.4(ATP7B):c.2737A>G (p.Ile913Val)
NM_000053.4(ATP7B):c.2740C>G (p.Gln914Glu)
NM_000053.4(ATP7B):c.2753A>C (p.Asp918Ala)
NM_000053.4(ATP7B):c.2768A>G (p.Tyr923Cys)
NM_000053.4(ATP7B):c.2787C>G (p.Ile929Met) rs773527867
NM_000053.4(ATP7B):c.2792T>C (p.Met931Thr) rs762875224
NM_000053.4(ATP7B):c.2833A>G (p.Ile945Val)
NM_000053.4(ATP7B):c.2836G>A (p.Asp946Asn)
NM_000053.4(ATP7B):c.2873A>G (p.Asn958Ser)
NM_000053.4(ATP7B):c.2875A>G (p.Lys959Glu)
NM_000053.4(ATP7B):c.3011A>C (p.Gln1004Pro) rs587783307
NM_000053.4(ATP7B):c.3017G>A (p.Gly1006Asp) rs1184103234
NM_000053.4(ATP7B):c.3055C>A (p.His1019Asn) rs2139046533
NM_000053.4(ATP7B):c.3061-12T>G
NM_000053.4(ATP7B):c.3094A>G (p.Ile1032Val)
NM_000053.4(ATP7B):c.3097A>G (p.Thr1033Ala) rs1555286620
NM_000053.4(ATP7B):c.3106G>T (p.Val1036Phe) rs761147984
NM_000053.4(ATP7B):c.3118A>T (p.Met1040Leu)
NM_000053.4(ATP7B):c.3133C>G (p.Leu1045Val)
NM_000053.4(ATP7B):c.3143T>A (p.Val1048Glu) rs1423091096
NM_000053.4(ATP7B):c.3160A>G (p.Arg1054Gly) rs377586515
NM_000053.4(ATP7B):c.3185C>T (p.Thr1062Ile) rs763053197
NM_000053.4(ATP7B):c.3199A>G (p.Ser1067Gly)
NM_000053.4(ATP7B):c.3220G>A (p.Ala1074Thr)
NM_000053.4(ATP7B):c.3235T>C (p.Cys1079Arg) rs1376645882
NM_000053.4(ATP7B):c.3237T>G (p.Cys1079Trp) rs1957506216
NM_000053.4(ATP7B):c.3239A>G (p.Lys1080Arg)
NM_000053.4(ATP7B):c.3243+5G>C
NM_000053.4(ATP7B):c.3272G>A (p.Cys1091Tyr) rs778825095
NM_000053.4(ATP7B):c.3278A>G (p.Asp1093Gly) rs1022670769
NM_000053.4(ATP7B):c.3286G>A (p.Ala1096Thr)
NM_000053.4(ATP7B):c.3292C>T (p.Pro1098Ser)
NM_000053.4(ATP7B):c.3320_3322del (p.Ser1107del) rs760772190
NM_000053.4(ATP7B):c.3322A>C (p.Asn1108His)
NM_000053.4(ATP7B):c.3325G>A (p.Val1109Met)
NM_000053.4(ATP7B):c.3334A>T (p.Ile1112Phe) rs770624100
NM_000053.4(ATP7B):c.3341C>T (p.Ala1114Val) rs2138850408
NM_000053.4(ATP7B):c.334G>T (p.Val112Phe)
NM_000053.4(ATP7B):c.3352C>T (p.Arg1118Cys)
NM_000053.4(ATP7B):c.3353G>A (p.Arg1118His)
NM_000053.4(ATP7B):c.3373A>G (p.Ser1125Gly)
NM_000053.4(ATP7B):c.33A>T (p.Arg11Ser)
NM_000053.4(ATP7B):c.3407A>G (p.Glu1136Gly)
NM_000053.4(ATP7B):c.3412+15T>A rs565888819
NM_000053.4(ATP7B):c.3434C>G (p.Ser1145Cys)
NM_000053.4(ATP7B):c.3454G>A (p.Glu1152Lys)
NM_000053.4(ATP7B):c.3466C>T (p.Arg1156Cys)
NM_000053.4(ATP7B):c.3472G>C (p.Gly1158Arg)
NM_000053.4(ATP7B):c.3477A>T (p.Leu1159Phe)
NM_000053.4(ATP7B):c.3484T>C (p.Ser1162Pro) rs2138782354
NM_000053.4(ATP7B):c.3485C>T (p.Ser1162Phe)
NM_000053.4(ATP7B):c.348T>A (p.Ile116=) rs2140105580
NM_000053.4(ATP7B):c.3493G>A (p.Val1165Ile)
NM_000053.4(ATP7B):c.3507G>A (p.Met1169Ile)
NM_000053.4(ATP7B):c.3520A>G (p.Met1174Val) rs750407028
NM_000053.4(ATP7B):c.3523A>C (p.Lys1175Gln)
NM_000053.4(ATP7B):c.353A>G (p.Asp118Gly)
NM_000053.4(ATP7B):c.3555C>T (p.Asp1185=)
NM_000053.4(ATP7B):c.3556+3A>G
NM_000053.4(ATP7B):c.3569G>T (p.Gly1190Val)
NM_000053.4(ATP7B):c.3575T>C (p.Ile1192Thr)
NM_000053.4(ATP7B):c.3577G>A (p.Ala1193Thr)
NM_000053.4(ATP7B):c.3616G>C (p.Val1206Leu)
NM_000053.4(ATP7B):c.3619C>T (p.His1207Tyr) rs766820841
NM_000053.4(ATP7B):c.365A>G (p.Glu122Gly)
NM_000053.4(ATP7B):c.3671G>A (p.Arg1224Gln)
NM_000053.4(ATP7B):c.3699+3A>G rs1459548901
NM_000053.4(ATP7B):c.3731T>C (p.Leu1244Pro) rs2138587892
NM_000053.4(ATP7B):c.3733C>G (p.Pro1245Ala) rs587783316
NM_000053.4(ATP7B):c.3752A>T (p.Lys1251Met)
NM_000053.4(ATP7B):c.3788C>G (p.Ala1263Gly)
NM_000053.4(ATP7B):c.3797G>A (p.Gly1266Glu) rs1566444586
NM_000053.4(ATP7B):c.3833C>T (p.Ala1278Val) rs1375884723
NM_000053.4(ATP7B):c.383G>A (p.Gly128Glu)
NM_000053.4(ATP7B):c.3841G>T (p.Gly1281Cys) rs1957043636
NM_000053.4(ATP7B):c.3842G>T (p.Gly1281Val) rs755202606
NM_000053.4(ATP7B):c.3860G>A (p.Gly1287Asp) rs2138574727
NM_000053.4(ATP7B):c.3880G>A (p.Ala1294Thr)
NM_000053.4(ATP7B):c.3899T>C (p.Ile1300Thr) rs1957038377
NM_000053.4(ATP7B):c.3903+6C>A
NM_000053.4(ATP7B):c.3926C>T (p.Ala1309Val)
NM_000053.4(ATP7B):c.3928A>G (p.Ser1310Gly) rs1210164486
NM_000053.4(ATP7B):c.3929G>A (p.Ser1310Asn)
NM_000053.4(ATP7B):c.3955C>G (p.Arg1319Gly)
NM_000053.4(ATP7B):c.3965G>A (p.Arg1322His) rs753330854
NM_000053.4(ATP7B):c.3965G>C (p.Arg1322Pro)
NM_000053.4(ATP7B):c.3967A>G (p.Ile1323Val)
NM_000053.4(ATP7B):c.3980T>C (p.Leu1327Pro) rs2138559197
NM_000053.4(ATP7B):c.4012A>G (p.Ile1338Val)
NM_000053.4(ATP7B):c.4021+3dup
NM_000053.4(ATP7B):c.4021+5G>C
NM_000053.4(ATP7B):c.4027_4029dup (p.Phe1343_Met1344insPhe)
NM_000053.4(ATP7B):c.4036A>G (p.Ile1346Val)
NM_000053.4(ATP7B):c.4057T>C (p.Trp1353Arg) rs1160679283
NM_000053.4(ATP7B):c.4063G>A (p.Gly1355Ser) rs1555282751
NM_000053.4(ATP7B):c.4076_4077delinsAT (p.Met1359Asn)
NM_000053.4(ATP7B):c.4094C>T (p.Ser1365Phe)
NM_000053.4(ATP7B):c.40G>A (p.Ala14Thr)
NM_000053.4(ATP7B):c.4112T>G (p.Leu1371Arg) rs1444841250
NM_000053.4(ATP7B):c.4114C>A (p.Gln1372Lys)
NM_000053.4(ATP7B):c.4124+6T>C rs2138450581
NM_000053.4(ATP7B):c.4125-2A>G rs1555282347
NM_000053.4(ATP7B):c.4141C>G (p.Leu1381Val)
NM_000053.4(ATP7B):c.4174A>G (p.Met1392Val)
NM_000053.4(ATP7B):c.4174A>T (p.Met1392Leu)
NM_000053.4(ATP7B):c.4181C>T (p.Pro1394Leu) rs1041361346
NM_000053.4(ATP7B):c.4187C>T (p.Thr1396Met)
NM_000053.4(ATP7B):c.4231C>G (p.Arg1411Gly)
NM_000053.4(ATP7B):c.4268G>A (p.Ser1423Asn) rs755388647
NM_000053.4(ATP7B):c.4273G>A (p.Val1425Ile)
NM_000053.4(ATP7B):c.4280A>G (p.Gln1427Arg)
NM_000053.4(ATP7B):c.4283T>C (p.Val1428Ala)
NM_000053.4(ATP7B):c.4286C>T (p.Ser1429Leu) rs1956864058
NM_000053.4(ATP7B):c.4306G>A (p.Asp1436Asn)
NM_000053.4(ATP7B):c.4315T>C (p.Ser1439Pro) rs1454806333
NM_000053.4(ATP7B):c.4316C>G (p.Ser1439Cys)
NM_000053.4(ATP7B):c.4327G>A (p.Ala1443Thr)
NM_000053.4(ATP7B):c.4327G>T (p.Ala1443Ser) rs764383437
NM_000053.4(ATP7B):c.4348G>A (p.Asp1450Asn)
NM_000053.4(ATP7B):c.4379A>G (p.Asp1460Gly) rs1593633844
NM_000053.4(ATP7B):c.437A>G (p.Lys146Arg)
NM_000053.4(ATP7B):c.4388A>G (p.Gln1463Arg) rs202131204
NM_000053.4(ATP7B):c.4396T>C (p.Ter1466Arg)
NM_000053.4(ATP7B):c.449A>C (p.Glu150Ala)
NM_000053.4(ATP7B):c.464A>G (p.Gln155Arg)
NM_000053.4(ATP7B):c.46C>G (p.Arg16Gly)
NM_000053.4(ATP7B):c.486A>C (p.Glu162Asp)
NM_000053.4(ATP7B):c.501A>T (p.Lys167Asn)
NM_000053.4(ATP7B):c.512T>C (p.Val171Ala)
NM_000053.4(ATP7B):c.530C>T (p.Ser177Leu)
NM_000053.4(ATP7B):c.555C>G (p.Ile185Met)
NM_000053.4(ATP7B):c.556A>G (p.Thr186Ala)
NM_000053.4(ATP7B):c.579G>C (p.Gln193His)
NM_000053.4(ATP7B):c.580C>T (p.Pro194Ser)
NM_000053.4(ATP7B):c.595G>T (p.Asp199Tyr)
NM_000053.4(ATP7B):c.599A>G (p.His200Arg)
NM_000053.4(ATP7B):c.604A>G (p.Asn202Asp) rs1952013968
NM_000053.4(ATP7B):c.611T>C (p.Met204Thr)
NM_000053.4(ATP7B):c.613G>A (p.Gly205Arg) rs528587507
NM_000053.4(ATP7B):c.62A>T (p.Lys21Met)
NM_000053.4(ATP7B):c.664A>C (p.Ile222Leu)
NM_000053.4(ATP7B):c.677G>A (p.Arg226Gln)
NM_000053.4(ATP7B):c.694C>T (p.Pro232Ser)
NM_000053.4(ATP7B):c.697A>G (p.Lys233Glu)
NM_000053.4(ATP7B):c.703C>G (p.Pro235Ala) rs2140092373
NM_000053.4(ATP7B):c.748G>A (p.Gly250Arg)
NM_000053.4(ATP7B):c.76A>G (p.Thr26Ala)
NM_000053.4(ATP7B):c.789A>G (p.Ile263Met) rs2140089802
NM_000053.4(ATP7B):c.797T>A (p.Met266Lys) rs2140089674
NM_000053.4(ATP7B):c.814G>C (p.Val272Leu)
NM_000053.4(ATP7B):c.835A>G (p.Ile279Val) rs1952002052
NM_000053.4(ATP7B):c.839G>A (p.Gly280Asp) rs1411428188
NM_000053.4(ATP7B):c.853G>A (p.Val285Ile)
NM_000053.4(ATP7B):c.854T>G (p.Val285Gly) rs1411865806
NM_000053.4(ATP7B):c.869T>C (p.Val290Ala)
NM_000053.4(ATP7B):c.879G>T (p.Glu293Asp) rs1593789326
NM_000053.4(ATP7B):c.894A>G (p.Gln298=)
NM_000053.4(ATP7B):c.895G>C (p.Val299Leu) rs146791250
NM_000053.4(ATP7B):c.913T>C (p.Cys305Arg)
NM_000053.4(ATP7B):c.923C>T (p.Pro308Leu) rs1951995908
NM_000053.4(ATP7B):c.943A>G (p.Ile315Val) rs745596221
NM_000053.4(ATP7B):c.958C>T (p.Pro320Ser)
NM_000053.4(ATP7B):c.989G>A (p.Gly330Glu)
NM_000053.4(ATP7B):c.98T>G (p.Met33Arg)
NM_000053.4(ATP7B):c.998G>A (p.Gly333Glu)
NM_000053.4(ATP7B):c.9G>C (p.Glu3Asp)
NM_001406511.1(ATP7B):c.-55+247T>C
NM_001406511.1(ATP7B):c.-55+251C>G
NM_001406511.1(ATP7B):c.-55+258G>A

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