ClinVar Miner

List of variants in gene ATP7B reported as pathogenic

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Gene type:
ClinVar version:
Total variants: 500
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HGVS dbSNP gnomAD frequency
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.3207C>A (p.His1069Gln) rs76151636 0.00100
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.2305A>G (p.Met769Val) rs193922103 0.00015
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn) rs199821556 0.00014
NM_000053.4(ATP7B):c.2755C>G (p.Arg919Gly) rs121907993 0.00013
NM_000053.4(ATP7B):c.347T>C (p.Ile116Thr) rs199773340 0.00012
NM_000053.4(ATP7B):c.2930C>T (p.Thr977Met) rs72552255 0.00011
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu) rs28942074 0.00010
NM_000053.4(ATP7B):c.3275C>T (p.Thr1092Met) rs368545738 0.00010
NM_000053.4(ATP7B):c.2336G>A (p.Trp779Ter) rs137853283 0.00009
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.3955C>T (p.Arg1319Ter) rs193922109 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.2906G>A (p.Arg969Gln) rs121907996 0.00006
NM_000053.4(ATP7B):c.2978C>T (p.Thr993Met) rs200290721 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.2123T>C (p.Leu708Pro) rs121908000 0.00005
NM_000053.4(ATP7B):c.2128G>A (p.Gly710Ser) rs137853285 0.00005
NM_000053.4(ATP7B):c.3182G>A (p.Gly1061Glu) rs764131178 0.00005
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile) rs541208827 0.00005
NM_000053.4(ATP7B):c.1630C>T (p.Gln544Ter) rs766906034 0.00004
NM_000053.4(ATP7B):c.2183A>G (p.Asn728Ser) rs760713333 0.00004
NM_000053.4(ATP7B):c.3443T>C (p.Ile1148Thr) rs60431989 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.2300C>T (p.Pro767Leu) rs776668666 0.00003
NM_000053.4(ATP7B):c.2332C>T (p.Arg778Trp) rs137853284 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.3809A>G (p.Asn1270Ser) rs121907990 0.00003
NM_000053.4(ATP7B):c.3818C>T (p.Pro1273Leu) rs758355520 0.00003
NM_000053.4(ATP7B):c.865C>T (p.Gln289Ter) rs121907999 0.00003
NM_000053.4(ATP7B):c.2072G>T (p.Gly691Val) rs1555291801 0.00002
NM_000053.4(ATP7B):c.2828G>A (p.Gly943Asp) rs779323689 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.3517G>A (p.Glu1173Lys) rs756029120 0.00002
NM_000053.4(ATP7B):c.3694A>C (p.Thr1232Pro) rs568009639 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.1708-1G>C rs137853280 0.00001
NM_000053.4(ATP7B):c.1708-5T>G rs770829226 0.00001
NM_000053.4(ATP7B):c.1746dup (p.Glu583fs) rs1566559605 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.1847G>A (p.Arg616Gln) rs752850609 0.00001
NM_000053.4(ATP7B):c.1946+6T>C rs751287778 0.00001
NM_000053.4(ATP7B):c.1969A>C (p.Ser657Arg) rs372436901 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.2122-1G>C rs1319653818 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.2145C>T (p.Tyr715=) rs751202110 0.00001
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=) rs372979339 0.00001
NM_000053.4(ATP7B):c.2293G>A (p.Asp765Asn) rs28942075 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.2383C>T (p.Leu795Phe) rs751710854 0.00001
NM_000053.4(ATP7B):c.2447+1G>A rs1958431105 0.00001
NM_000053.4(ATP7B):c.2448G>T (p.Arg816Ser) rs1957924589 0.00001
NM_000053.4(ATP7B):c.2512A>G (p.Lys838Glu) rs748113748 0.00001
NM_000053.4(ATP7B):c.2519C>T (p.Pro840Leu) rs768671894 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.2621C>T (p.Ala874Val) rs121907994 0.00001
NM_000053.4(ATP7B):c.2762G>A (p.Ser921Asn) rs1230241288 0.00001
NM_000053.4(ATP7B):c.2807T>A (p.Leu936Ter) rs776002066 0.00001
NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser) rs28942076 0.00001
NM_000053.4(ATP7B):c.2865+1G>A rs587783306 0.00001
NM_000053.4(ATP7B):c.2866-2A>C rs1377418826 0.00001
NM_000053.4(ATP7B):c.2924C>A (p.Ser975Tyr) rs778163447 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.3107dup (p.Arg1038fs) rs886043423 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.3280T>C (p.Phe1094Leu) rs1397083296 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.3556+1G>A rs184388696 0.00001
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser) rs786204547 0.00001
NM_000053.4(ATP7B):c.3741C>G (p.His1247Gln) rs767464491 0.00001
NM_000053.4(ATP7B):c.3766C>T (p.Gln1256Ter) rs1957048901 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.3914T>C (p.Leu1305Pro) rs377144951 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.4150dup (p.Tyr1384fs) rs1555282316 0.00001
NM_000053.4(ATP7B):c.44del (p.Ser15fs) rs1192728612 0.00001
NM_000053.4(ATP7B):c.51+4A>T rs369488210 0.00001
NM_000053.4(ATP7B):c.562C>T (p.Gln188Ter) rs1412593296 0.00001
GRCh37/hg19 13q14.3(chr13:52548050-52549324)
NC_000013.10:g.(?_52508892)_(52585473_?)del
NC_000013.10:g.(?_52511432)_(52514936_?)del
NC_000013.10:g.(?_52516512)_(52516700_?)del
NC_000013.10:g.(?_52520410)_(52524545_?)del
NC_000013.10:g.(?_52524279)_(52524855_?)del
NC_000013.10:g.(?_52531632)_(52532700_?)del
NC_000013.10:g.(?_52542570)_(52549314_?)del
NC_000013.10:g.(?_52548990)_(52552030_?)del
NC_000013.10:g.(?_52548990)_52552030del
NC_000013.11:g.(?_51934746)_(51950409_?)del
NC_000013.11:g.(?_51973915)_(51975188_?)del
NM_000053.3(ATP7B):c.[1924G>C];[3809A>G]
NM_000053.3(ATP7B):c.[2950C>G];[3809A>G]
NM_000053.3(ATP7B):c.[3443T>C;3526G>A]
NM_000053.4(ATP7B):c.1000dup (p.Ser334fs)
NM_000053.4(ATP7B):c.1017del (p.Arg339fs)
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.1073del (p.Cys358fs) rs1951985366
NM_000053.4(ATP7B):c.1100del (p.Gly367fs) rs2140073872
NM_000053.4(ATP7B):c.1107_1108dup (p.Cys370fs) rs2140073366
NM_000053.4(ATP7B):c.111dup (p.Ala38fs) rs1555296939
NM_000053.4(ATP7B):c.1136del (p.Gly379fs) rs2140072323
NM_000053.4(ATP7B):c.1145_1151del (p.Ser382fs) rs1176709391
NM_000053.4(ATP7B):c.1147C>T (p.Gln383Ter) rs2140071850
NM_000053.4(ATP7B):c.1158_1159del (p.Val387fs) rs1593787789
NM_000053.4(ATP7B):c.1172del (p.Ser391fs)
NM_000053.4(ATP7B):c.1174del (p.Val392fs) rs2140069931
NM_000053.4(ATP7B):c.1186G>T (p.Glu396Ter) rs763051801
NM_000053.4(ATP7B):c.1195_1205del (p.Ala399fs)
NM_000053.4(ATP7B):c.122del (p.Asn41fs) rs2140114949
NM_000053.4(ATP7B):c.1242_1243del (p.Arg414fs) rs2140066737
NM_000053.4(ATP7B):c.1286-2A>G rs2139975409
NM_000053.4(ATP7B):c.1292_1294delinsA (p.Cys431fs)
NM_000053.4(ATP7B):c.130del (p.Tyr44fs)
NM_000053.4(ATP7B):c.1339C>T (p.Gln447Ter) rs746637821
NM_000053.4(ATP7B):c.1340_1343del (p.Gln447fs) rs1057517444
NM_000053.4(ATP7B):c.1352del (p.Gly451fs)
NM_000053.4(ATP7B):c.1369C>T (p.Gln457Ter) rs1951795080
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.1436del (p.Pro479fs)
NM_000053.4(ATP7B):c.1463dup (p.Lys489fs)
NM_000053.4(ATP7B):c.1470C>A (p.Cys490Ter) rs778675259
NM_000053.4(ATP7B):c.1477C>T (p.Gln493Ter)
NM_000053.4(ATP7B):c.1494del (p.Cys499fs)
NM_000053.4(ATP7B):c.14_38del (p.Glu5fs) rs2140768125
NM_000053.4(ATP7B):c.1512dup (p.Asn505Ter) rs1057516418
NM_000053.4(ATP7B):c.1517_1518del (p.Ile506fs)
NM_000053.4(ATP7B):c.1520_1523del (p.Glu507fs) rs772000260
NM_000053.4(ATP7B):c.1531C>T (p.Gln511Ter) rs1449610384
NM_000053.4(ATP7B):c.1537G>T (p.Glu513Ter) rs2139960322
NM_000053.4(ATP7B):c.1543+1G>A
NM_000053.4(ATP7B):c.1543+1G>C rs1360279134
NM_000053.4(ATP7B):c.1543+1G>T rs1360279134
NM_000053.4(ATP7B):c.1544-2A>G
NM_000053.4(ATP7B):c.1605_1608dup (p.Ile537fs)
NM_000053.4(ATP7B):c.1605_1609dup (p.Ile537fs) rs886043238
NM_000053.4(ATP7B):c.1612C>T (p.Gln538Ter)
NM_000053.4(ATP7B):c.1639C>T (p.Gln547Ter) rs996419100
NM_000053.4(ATP7B):c.1648_1654del (p.Gly550fs) rs1951680623
NM_000053.4(ATP7B):c.1649del (p.Gly550fs) rs2139890297
NM_000053.4(ATP7B):c.1660_1666dup (p.Met556fs)
NM_000053.4(ATP7B):c.1677C>A (p.Tyr559Ter) rs142187604
NM_000053.4(ATP7B):c.1705_1707+10del rs2139883798
NM_000053.4(ATP7B):c.1707+2dup rs781531824
NM_000053.4(ATP7B):c.1708-1G>A rs137853280
NM_000053.4(ATP7B):c.1708-25_1719del rs1566560096
NM_000053.4(ATP7B):c.1716del (p.Gly572_Met573insTer) rs1057516893
NM_000053.4(ATP7B):c.1739del (p.His580fs) rs1555293357
NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs) rs753962912
NM_000053.4(ATP7B):c.174dup (p.Thr59fs) rs1057516561
NM_000053.4(ATP7B):c.1770dup (p.Gly591fs) rs2139775159
NM_000053.4(ATP7B):c.1803del (p.Ser602fs)
NM_000053.4(ATP7B):c.1813dup (p.Leu605fs) rs1951467428
NM_000053.4(ATP7B):c.1855del (p.Ile619fs)
NM_000053.4(ATP7B):c.1869+2T>C rs2139767694
NM_000053.4(ATP7B):c.1870_1871del (p.Glu624fs) rs2139669739
NM_000053.4(ATP7B):c.1883_1884del (p.His628fs)
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.1945C>T (p.Gln649Ter) rs1958765122
NM_000053.4(ATP7B):c.1947-2A>G
NM_000053.4(ATP7B):c.1949G>A (p.Trp650Ter)
NM_000053.4(ATP7B):c.1963del (p.Leu655fs) rs2139612433
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs) rs749363958
NM_000053.4(ATP7B):c.2009_2012dup (p.Met671fs) rs1555291870
NM_000053.4(ATP7B):c.2009_2015del (p.Ile669_Tyr670insTer) rs779904655
NM_000053.4(ATP7B):c.2011_2012dup (p.Met671fs) rs1555291870
NM_000053.4(ATP7B):c.202del (p.Thr68fs)
NM_000053.4(ATP7B):c.2035dup (p.His679fs)
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.2071G>C (p.Gly691Arg)
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.210del (p.Gln70fs)
NM_000053.4(ATP7B):c.2110del (p.Thr704fs)
NM_000053.4(ATP7B):c.2121+1G>T
NM_000053.4(ATP7B):c.2121+3A>G rs1248002612
NM_000053.4(ATP7B):c.2121+3A>T rs1248002612
NM_000053.4(ATP7B):c.2122-1G>A rs1319653818
NM_000053.4(ATP7B):c.2131G>A (p.Gly711Arg) rs1394999756
NM_000053.4(ATP7B):c.2133del (p.Trp712fs)
NM_000053.4(ATP7B):c.2135G>A (p.Trp712Ter)
NM_000053.4(ATP7B):c.2139C>G (p.Tyr713Ter)
NM_000053.4(ATP7B):c.213_214del (p.Val73fs) rs1445951068
NM_000053.4(ATP7B):c.2145C>A (p.Tyr715Ter) rs751202110
NM_000053.4(ATP7B):c.2145del (p.Phe714_Tyr715insTer) rs1593726648
NM_000053.4(ATP7B):c.2149C>T (p.Gln717Ter) rs1085307057
NM_000053.4(ATP7B):c.2157C>A (p.Tyr719Ter) rs1057516380
NM_000053.4(ATP7B):c.2157del (p.Ala718_Tyr719insTer) rs1958506321
NM_000053.4(ATP7B):c.2165dup (p.Arg723fs) rs768729972
NM_000053.4(ATP7B):c.2204T>G (p.Leu735Arg)
NM_000053.4(ATP7B):c.2223T>A (p.Tyr741Ter) rs1958499640
NM_000053.4(ATP7B):c.2227del (p.Tyr743fs) rs1958499462
NM_000053.4(ATP7B):c.2228_2229insACA (p.Tyr743Ter)
NM_000053.4(ATP7B):c.2230T>C (p.Ser744Pro) rs1593726081
NM_000053.4(ATP7B):c.2231C>T (p.Ser744Phe) rs1958498953
NM_000053.4(ATP7B):c.2233_2234del (p.Leu745fs) rs1555291195
NM_000053.4(ATP7B):c.2255_2262dup (p.Lys755fs)
NM_000053.4(ATP7B):c.2280_2301del (p.Val761fs)
NM_000053.4(ATP7B):c.2292_2312del (p.Asp765_Phe771del)
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.2303C>T (p.Pro768Leu) rs1057516844
NM_000053.4(ATP7B):c.2304del (p.Met769fs) rs137853287
NM_000053.4(ATP7B):c.2304dup (p.Met769fs) rs137853287
NM_000053.4(ATP7B):c.2310dup (p.Phe771fs)
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly) rs137853284
NM_000053.4(ATP7B):c.2333G>A (p.Arg778Gln) rs28942074
NM_000053.4(ATP7B):c.2337G>A (p.Trp779Ter) rs137853282
NM_000053.4(ATP7B):c.2351C>T (p.Ala784Val) rs1566532164
NM_000053.4(ATP7B):c.2356-2A>G rs2139505830
NM_000053.4(ATP7B):c.2407G>A (p.Ala803Thr)
NM_000053.4(ATP7B):c.2410dup (p.Thr804fs)
NM_000053.4(ATP7B):c.2415_2416insA (p.Val806fs)
NM_000053.4(ATP7B):c.2424_2425insA (p.Gly809fs)
NM_000053.4(ATP7B):c.2426del (p.Gly809fs) rs1958433515
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+1G>T rs1958431105
NM_000053.4(ATP7B):c.2447+5G>A rs1369012080
NM_000053.4(ATP7B):c.2452del (p.Glu818fs)
NM_000053.4(ATP7B):c.246_284del (p.Asn82_Gln95delinsLys)
NM_000053.4(ATP7B):c.2476_2510del (p.Gln826fs)
NM_000053.4(ATP7B):c.2478_2479delinsT (p.Gln826fs) rs1555288808
NM_000053.4(ATP7B):c.2486A>G (p.Asp829Gly) rs1566503575
NM_000053.4(ATP7B):c.2497dup (p.Val833fs)
NM_000053.4(ATP7B):c.2510del (p.Gly837fs) rs964976261
NM_000053.4(ATP7B):c.2510dup (p.Phe839fs) rs964976261
NM_000053.4(ATP7B):c.2513del (p.Lys838fs) rs777362050
NM_000053.4(ATP7B):c.2532del (p.Val845fs) rs755709270
NM_000053.4(ATP7B):c.2536del (p.Leu846fs)
NM_000053.4(ATP7B):c.2570T>C (p.Ile857Thr) rs1057520235
NM_000053.4(ATP7B):c.2575+1G>A rs766149114
NM_000053.4(ATP7B):c.2578G>T (p.Glu860Ter)
NM_000053.4(ATP7B):c.2588del (p.Pro863fs) rs2139212289
NM_000053.4(ATP7B):c.2589del (p.Val864fs) rs2139212032
NM_000053.4(ATP7B):c.2595dup (p.Lys866Ter)
NM_000053.4(ATP7B):c.2604del (p.Gly869fs) rs1957904411
NM_000053.4(ATP7B):c.2605G>T (p.Gly869Ter) rs191312027
NM_000053.4(ATP7B):c.2614_2615del (p.Val872fs) rs2139209584
NM_000053.4(ATP7B):c.2622_2643del (p.Gly875fs) rs2139208029
NM_000053.4(ATP7B):c.2637_2650del (p.His880_Gly881insTer) rs2139207205
NM_000053.4(ATP7B):c.2648_2649del (p.Val883fs)
NM_000053.4(ATP7B):c.2659del (p.Ala887fs)
NM_000053.4(ATP7B):c.2662A>C (p.Thr888Pro) rs1455758826
NM_000053.4(ATP7B):c.2692C>T (p.Gln898Ter) rs1957898187
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.2731-1G>A rs2139193234
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.2755_2756insAA (p.Arg919fs)
NM_000053.4(ATP7B):c.2763T>A (p.Ser921Arg)
NM_000053.4(ATP7B):c.2763T>G (p.Ser921Arg)
NM_000053.4(ATP7B):c.2781del (p.Phe927fs) rs1957877283
NM_000053.4(ATP7B):c.2784CAT[2] (p.Ile930del) rs1228359983
NM_000053.4(ATP7B):c.2795C>A (p.Ser932Ter) rs1566498495
NM_000053.4(ATP7B):c.2810del (p.Val937fs) rs1057516643
NM_000053.4(ATP7B):c.2817G>C (p.Trp939Cys) rs1057517310
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.283C>T (p.Gln95Ter) rs756929892
NM_000053.4(ATP7B):c.2851C>T (p.Gln951Ter)
NM_000053.4(ATP7B):c.2866-2A>G rs1377418826
NM_000053.4(ATP7B):c.2866-2del rs1593681941
NM_000053.4(ATP7B):c.2871del (p.Asn958fs) rs1957668488
NM_000053.4(ATP7B):c.2892del (p.Glu965fs) rs2139062378
NM_000053.4(ATP7B):c.2896del (p.Glu965_Val966insTer)
NM_000053.4(ATP7B):c.2939G>A (p.Cys980Tyr) rs1038582488
NM_000053.4(ATP7B):c.2952del (p.Cys985fs) rs1957660459
NM_000053.4(ATP7B):c.2953del (p.Cys985fs) rs1957660093
NM_000053.4(ATP7B):c.2962G>C (p.Gly988Arg) rs199623434
NM_000053.4(ATP7B):c.2987T>C (p.Met996Thr) rs770782111
NM_000053.4(ATP7B):c.2997dup (p.Gly1000fs) rs1957654399
NM_000053.4(ATP7B):c.2998G>C (p.Gly1000Arg) rs751078884
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val) rs775055397
NM_000053.4(ATP7B):c.3010C>T (p.Gln1004Ter)
NM_000053.4(ATP7B):c.3011A>C (p.Gln1004Pro) rs587783307
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.3058A>T (p.Lys1020Ter)
NM_000053.4(ATP7B):c.3060+2T>C rs2139045834
NM_000053.4(ATP7B):c.3061-12T>A rs1045194246
NM_000053.4(ATP7B):c.3061-1G>A rs780955130
NM_000053.4(ATP7B):c.3061-2A>G rs1957520924
NM_000053.4(ATP7B):c.3061-549_3081del rs1957518966
NM_000053.4(ATP7B):c.3062T>A (p.Ile1021Lys) rs949421614
NM_000053.4(ATP7B):c.3071_3072del (p.Val1024fs) rs1957519682
NM_000053.4(ATP7B):c.3079G>C (p.Asp1027His) rs1593672840
NM_000053.4(ATP7B):c.3083_3085delinsC (p.Lys1028fs) rs1331370011
NM_000053.4(ATP7B):c.3083_3085delinsG (p.Lys1028fs) rs1331370011
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>A (p.Gly1030Asp) rs2138958110
NM_000053.4(ATP7B):c.3101dup (p.His1034fs) rs1681704644
NM_000053.4(ATP7B):c.3104G>T (p.Gly1035Val) rs753594031
NM_000053.4(ATP7B):c.3111del (p.Arg1038fs)
NM_000053.4(ATP7B):c.3124dup (p.Val1042fs)
NM_000053.4(ATP7B):c.3139G>T (p.Asp1047Tyr) rs1441316018
NM_000053.4(ATP7B):c.3140del (p.Asp1047fs) rs2138953252
NM_000053.4(ATP7B):c.3147del (p.Thr1050fs) rs762031690
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.3168del (p.Leu1057fs) rs2138950870
NM_000053.4(ATP7B):c.3183del (p.Thr1062fs) rs2138948876
NM_000053.4(ATP7B):c.3190G>A (p.Glu1064Lys) rs376910645
NM_000053.4(ATP7B):c.3203A>G (p.Glu1068Gly) rs1555286478
NM_000053.4(ATP7B):c.3206A>G (p.His1069Arg) rs201738147
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.3244-1G>A rs2138859417
NM_000053.4(ATP7B):c.3244-2A>G rs786204584
NM_000053.4(ATP7B):c.3247C>T (p.Leu1083Phe) rs1286080173
NM_000053.4(ATP7B):c.3270C>G (p.Tyr1090Ter) rs2138857747
NM_000053.4(ATP7B):c.3282C>A (p.Phe1094Leu) rs1957397703
NM_000053.4(ATP7B):c.3283C>T (p.Gln1095Ter)
NM_000053.4(ATP7B):c.3283del (p.Gln1095fs)
NM_000053.4(ATP7B):c.3284A>C (p.Gln1095Pro) rs1555285891
NM_000053.4(ATP7B):c.3295_3296dup (p.Cys1100fs)
NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg) rs786204483
NM_000053.4(ATP7B):c.3316_3317dup (p.Asn1108fs)
NM_000053.4(ATP7B):c.3334_3335del (p.Ile1112fs) rs2138851041
NM_000053.4(ATP7B):c.3350_3353del (p.Glu1117fs) rs1555285830
NM_000053.4(ATP7B):c.3361_3364del (p.Ser1121fs)
NM_000053.4(ATP7B):c.3402del (p.Ala1135fs) rs137853281
NM_000053.4(ATP7B):c.3412+1G>A rs1957388064
NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala) rs1566462533
NM_000053.4(ATP7B):c.3449del (p.Asn1150fs) rs1555285380
NM_000053.4(ATP7B):c.3472_3482del (p.Gly1158fs) rs1566461818
NM_000053.4(ATP7B):c.3526G>A (p.Gly1176Arg) rs137853279
NM_000053.4(ATP7B):c.3529C>T (p.Gln1177Ter) rs1057516479
NM_000053.4(ATP7B):c.3532A>G (p.Thr1178Ala) rs1387431334
NM_000053.4(ATP7B):c.3547_3548del (p.Ala1183fs)
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>C rs2138674428
NM_000053.4(ATP7B):c.3560_3561del (p.Val1187fs) rs2138673853
NM_000053.4(ATP7B):c.3567_3568del (p.Cys1189fs)
NM_000053.4(ATP7B):c.356dup (p.Met119fs) rs1952028475
NM_000053.4(ATP7B):c.3588dup (p.Ala1197fs) rs1957160342
NM_000053.4(ATP7B):c.3598C>T (p.Gln1200Ter) rs786204658
NM_000053.4(ATP7B):c.3628_3648del (p.Gln1210_Val1216del)
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.3664G>A (p.Asp1222Asn) rs2138663905
NM_000053.4(ATP7B):c.3664del (p.Asp1222fs) rs886042519
NM_000053.4(ATP7B):c.3664dup (p.Asp1222fs) rs886042519
NM_000053.4(ATP7B):c.3668_3674del (p.Asn1223fs) rs755012990
NM_000053.4(ATP7B):c.3691del (p.Ala1231fs) rs2138661836
NM_000053.4(ATP7B):c.3693_3697delinsTCTGGTACATTAACATTAA (p.Thr1232_Gln1233delinsLeuValHisTer) rs1957151127
NM_000053.4(ATP7B):c.36del (p.Ala14fs)
NM_000053.4(ATP7B):c.3700del rs1957054299
NM_000053.4(ATP7B):c.3722C>T (p.Ala1241Val) rs1555283994
NM_000053.4(ATP7B):c.3727del (p.Val1243fs)
NM_000053.4(ATP7B):c.3741C>A (p.His1247Gln) rs767464491
NM_000053.4(ATP7B):c.3741_3742dup (p.Lys1248fs) rs1462451206
NM_000053.4(ATP7B):c.3766_3767dup (p.Gln1256fs) rs1957048711
NM_000053.4(ATP7B):c.3772A>T (p.Lys1258Ter) rs1566444909
NM_000053.4(ATP7B):c.379del (p.Glu127fs) rs2140103906
NM_000053.4(ATP7B):c.3805dup (p.Val1269fs) rs2138580919
NM_000053.4(ATP7B):c.3818C>A (p.Pro1273Gln) rs758355520
NM_000053.4(ATP7B):c.3835_3862dup (p.Thr1288fs) rs2138574560
NM_000053.4(ATP7B):c.3836A>G (p.Asp1279Gly) rs778914828
NM_000053.4(ATP7B):c.383del (p.Gly128fs) rs797045083
NM_000053.4(ATP7B):c.3843dup (p.Val1282fs) rs1957043255
NM_000053.4(ATP7B):c.3845dup (p.Ala1283fs) rs2138576515
NM_000053.4(ATP7B):c.3852_3875del (p.Gly1285_Ile1292del) rs1555283826
NM_000053.4(ATP7B):c.3862A>C (p.Thr1288Pro) rs1257330000
NM_000053.4(ATP7B):c.3863C>G (p.Thr1288Arg) rs373748155
NM_000053.4(ATP7B):c.3883_3890del (p.Ala1295fs) rs2138571104
NM_000053.4(ATP7B):c.3884C>T (p.Ala1295Val) rs1340942427
NM_000053.4(ATP7B):c.3889GTC[1] (p.Val1298del) rs2138570625
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.3895del (p.Ile1300fs) rs1957038706
NM_000053.4(ATP7B):c.3904-2A>G rs1057517233
NM_000053.4(ATP7B):c.3904-2del rs1957032734
NM_000053.4(ATP7B):c.3914_3918dup (p.Val1307fs)
NM_000053.4(ATP7B):c.3942_3947delinsAGA (p.Lys1315_Arg1316delinsGlu) rs2138562773
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.3974del (p.Leu1325fs) rs1957027467
NM_000053.4(ATP7B):c.3990_3993del (p.Tyr1331fs) rs1566441447
NM_000053.4(ATP7B):c.4006del (p.Ile1336fs) rs1555283564
NM_000053.4(ATP7B):c.4011del (p.Ile1338fs)
NM_000053.4(ATP7B):c.4021+1G>A
NM_000053.4(ATP7B):c.4021G>A (p.Gly1341Ser) rs587783317
NM_000053.4(ATP7B):c.4022G>T (p.Gly1341Val) rs779494870
NM_000053.4(ATP7B):c.404C>G (p.Ser135Ter) rs2140103116
NM_000053.4(ATP7B):c.4051C>T (p.Gln1351Ter) rs786204578
NM_000053.4(ATP7B):c.4060del (p.Met1354fs)
NM_000053.4(ATP7B):c.4088C>T (p.Ser1363Phe) rs776848753
NM_000053.4(ATP7B):c.4092_4093del (p.Ser1365fs) rs771603301
NM_000053.4(ATP7B):c.4093dup (p.Ser1365fs)
NM_000053.4(ATP7B):c.4106C>T (p.Ser1369Leu) rs1555282678
NM_000053.4(ATP7B):c.4112T>C (p.Leu1371Pro) rs1444841250
NM_000053.4(ATP7B):c.4114C>T (p.Gln1372Ter) rs755584106
NM_000053.4(ATP7B):c.4124+1G>A
NM_000053.4(ATP7B):c.4125-1G>T rs1293549383
NM_000053.4(ATP7B):c.4144G>T (p.Glu1382Ter) rs2138414735
NM_000053.4(ATP7B):c.4145_4148dup (p.Tyr1384fs)
NM_000053.4(ATP7B):c.4152T>G (p.Tyr1384Ter)
NM_000053.4(ATP7B):c.4152dup (p.Glu1385Ter)
NM_000053.4(ATP7B):c.4195C>T (p.Gln1399Ter) rs2138407151
NM_000053.4(ATP7B):c.4195del (p.Gln1399fs) rs886041336
NM_000053.4(ATP7B):c.4229G>A (p.Trp1410Ter)
NM_000053.4(ATP7B):c.4230G>A (p.Trp1410Ter)
NM_000053.4(ATP7B):c.4238_4245del (p.Ser1413fs)
NM_000053.4(ATP7B):c.4258dup (p.Asp1420fs) rs1956866547
NM_000053.4(ATP7B):c.4283dup (p.Ser1429fs) rs1555282191
NM_000053.4(ATP7B):c.4299del (p.Thr1434fs)
NM_000053.4(ATP7B):c.4339dup (p.Asp1447fs) rs1345677703
NM_000053.4(ATP7B):c.4354_4357dup (p.Ser1453fs)
NM_000053.4(ATP7B):c.4355G>A (p.Trp1452Ter)
NM_000053.4(ATP7B):c.4356G>A (p.Trp1452Ter)
NM_000053.4(ATP7B):c.436_1708-958del
NM_000053.4(ATP7B):c.4373del (p.Gly1458fs)
NM_000053.4(ATP7B):c.4374_4375del (p.Arg1459fs) rs2138386032
NM_000053.4(ATP7B):c.447_452delinsC (p.Glu150fs)
NM_000053.4(ATP7B):c.453dup (p.Met152fs)
NM_000053.4(ATP7B):c.462C>A (p.Cys154Ter)
NM_000053.4(ATP7B):c.465_466insCCTGTGCA (p.Ser156fs) rs2140100738
NM_000053.4(ATP7B):c.51+2T>C
NM_000053.4(ATP7B):c.51+2T>G
NM_000053.4(ATP7B):c.51dup rs1954023351
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs) rs558037268
NM_000053.4(ATP7B):c.525dup (p.Val176fs) rs558037268
NM_000053.4(ATP7B):c.528del (p.Ser177fs) rs2140098691
NM_000053.4(ATP7B):c.52dup (p.Ile18fs) rs2140117236
NM_000053.4(ATP7B):c.560_561del (p.Tyr187fs) rs2140096946
NM_000053.4(ATP7B):c.560_561insCT (p.Gln188fs) rs2140096995
NM_000053.4(ATP7B):c.561_563del (p.Tyr187_Gln188delinsTer) rs2140096745
NM_000053.4(ATP7B):c.570T>A (p.Tyr190Ter)
NM_000053.4(ATP7B):c.676_677del (p.Arg226fs)
NM_000053.4(ATP7B):c.678del (p.Leu227fs)
NM_000053.4(ATP7B):c.697_698del (p.Lys233fs) rs1023530194
NM_000053.4(ATP7B):c.702dup (p.Pro235fs)
NM_000053.4(ATP7B):c.721C>T (p.Gln241Ter) rs2140091906
NM_000053.4(ATP7B):c.768_771dup (p.Thr258fs)
NM_000053.4(ATP7B):c.778dup (p.Gln260fs) rs786204570
NM_000053.4(ATP7B):c.802_808del (p.Cys268fs) rs1566598496
NM_000053.4(ATP7B):c.804dup (p.Lys269Ter) rs1952004098
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter) rs572147914
NM_000053.4(ATP7B):c.841C>T (p.Gln281Ter) rs1555296356
NM_000053.4(ATP7B):c.841del (p.Gln281fs)
NM_000053.4(ATP7B):c.845del (p.Leu282fs) rs193922111
NM_000053.4(ATP7B):c.856C>T (p.Gln286Ter) rs1183423966
NM_000053.4(ATP7B):c.870_874del (p.Ser291fs)
NM_000053.4(ATP7B):c.903T>G (p.Tyr301Ter)
NM_000053.4(ATP7B):c.915T>A (p.Cys305Ter) rs398123137
NM_000053.4(ATP7B):c.918_931del (p.Ser307fs) rs1951995448
NM_000053.4(ATP7B):c.92dup (p.Ala32fs) rs1952043099
NM_000053.4(ATP7B):c.951_982dup (p.Pro328fs) rs2140080841
NM_000053.4(ATP7B):c.956del (p.Pro319fs) rs753674382
NM_000053.4(ATP7B):c.969dup (p.Lys324Ter)
NM_000053.4(ATP7B):c.970A>T (p.Lys324Ter) rs911589273
NM_000053.4(ATP7B):c.987_988dup (p.Gly330fs)
NM_000053.4(ATP7B):c.994G>T (p.Glu332Ter) rs761084829
NM_000053.4(ATP7B):c.995_998dup (p.Ser334fs) rs1951990899

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