ClinVar Miner

List of variants studied for disorder of copper metabolism by Counsyl

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 266
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HGVS dbSNP gnomAD frequency
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376 0.00342
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259 0.00149
NM_000053.4(ATP7B):c.2921C>T (p.Thr974Met) rs201061621 0.00032
NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser) rs189601972 0.00025
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.3886G>A (p.Asp1296Asn) rs199821556 0.00014
NM_000053.4(ATP7B):c.2755C>G (p.Arg919Gly) rs121907993 0.00013
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.3191A>C (p.Glu1064Ala) rs374094065 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.2128G>A (p.Gly710Ser) rs137853285 0.00005
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile) rs541208827 0.00005
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.3489C>T (p.Ser1163=) rs193922106 0.00004
NM_000053.4(ATP7B):c.2332C>T (p.Arg778Trp) rs137853284 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.3106G>A (p.Val1036Ile) rs761147984 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.3467G>A (p.Arg1156His) rs773917820 0.00003
NM_000053.4(ATP7B):c.3556G>C (p.Gly1186Arg) rs786204547 0.00003
NM_000053.4(ATP7B):c.3589G>A (p.Ala1197Thr) rs758025913 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.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.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.1285+2T>A rs759749626 0.00001
NM_000053.4(ATP7B):c.1708-5T>G rs770829226 0.00001
NM_000053.4(ATP7B):c.1782del (p.Thr593_Tyr594insTer) rs780327716 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.2000T>A (p.Leu667Ter) rs1474837260 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.2293G>A (p.Asp765Asn) rs28942075 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.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.2797A>C (p.Thr933Pro) rs1555288410 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.2945C>T (p.Ala982Val) rs1487547257 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.3051G>A (p.Met1017Ile) rs755851188 0.00001
NM_000053.4(ATP7B):c.3128T>C (p.Leu1043Pro) rs1412025509 0.00001
NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val) rs587783309 0.00001
NM_000053.4(ATP7B):c.3208C>T (p.Pro1070Ser) rs1423701688 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.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.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.3842G>A (p.Gly1281Asp) rs755202606 0.00001
NM_000053.4(ATP7B):c.3863C>T (p.Thr1288Met) rs373748155 0.00001
NM_000053.4(ATP7B):c.3877G>A (p.Glu1293Lys) rs776300396 0.00001
NM_000053.4(ATP7B):c.3992A>C (p.Tyr1331Ser) rs1131691741 0.00001
NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter) rs193922110 0.00001
NM_000053.4(ATP7B):c.4064G>A (p.Gly1355Asp) rs1305262063 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_000013.11:g.52011725G>A rs913869716
NM_000053.3(ATP7B):c.-122_-118dup rs1555304635
NM_000053.3(ATP7B):c.-127CG[2][1] rs1555304648
NM_000053.3(ATP7B):c.-127_-126GC[2][1] rs1322135702
NM_000053.3(ATP7B):c.-128_-127insGCCGT rs766338038
NM_000053.3(ATP7B):c.-676_-659dup rs1555304816
NM_000053.4(ATP7B):c.-436_-422del rs1484840087
NM_000053.4(ATP7B):c.103A>T (p.Lys35Ter) rs1057516516
NM_000053.4(ATP7B):c.1063C>T (p.Gln355Ter) rs778490238
NM_000053.4(ATP7B):c.111dup (p.Ala38fs) rs1555296939
NM_000053.4(ATP7B):c.1221_1223delinsTATA (p.Ile408_Ser409insTer) rs1555296015
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.1372G>T (p.Glu458Ter) rs1057516305
NM_000053.4(ATP7B):c.1392dup (p.Arg465fs) rs1555295017
NM_000053.4(ATP7B):c.1470C>A (p.Cys490Ter) rs778675259
NM_000053.4(ATP7B):c.1512dup (p.Asn505Ter) rs1057516418
NM_000053.4(ATP7B):c.1544-2A>C rs1555294398
NM_000053.4(ATP7B):c.1568T>A (p.Leu523Ter) rs773385516
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.1700_1707+16del rs1555294199
NM_000053.4(ATP7B):c.1708-1G>A rs137853280
NM_000053.4(ATP7B):c.1708-2A>G rs1057517024
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.1820dup (p.Phe608fs) rs1057516940
NM_000053.4(ATP7B):c.1924G>C (p.Asp642His) rs72552285
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.2009_2015del (p.Ile669_Tyr670insTer) rs779904655
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.2057ACA[1] (p.Asn687del) rs770107276
NM_000053.4(ATP7B):c.2071G>A (p.Gly691Arg) rs121908001
NM_000053.4(ATP7B):c.2078C>G (p.Ser693Cys) rs1212479289
NM_000053.4(ATP7B):c.2094CTT[1] (p.Phe700del) rs1555291787
NM_000053.4(ATP7B):c.2097_2100del (p.Phe699fs) rs1555291784
NM_000053.4(ATP7B):c.2121+3A>G rs1248002612
NM_000053.4(ATP7B):c.2122-1G>A rs1319653818
NM_000053.4(ATP7B):c.2129G>C (p.Gly710Ala) rs1555291285
NM_000053.4(ATP7B):c.2143T>C (p.Tyr715His) rs1555291272
NM_000053.4(ATP7B):c.2145C>A (p.Tyr715Ter) rs751202110
NM_000053.4(ATP7B):c.2152G>C (p.Ala718Pro) rs1555291265
NM_000053.4(ATP7B):c.2157C>A (p.Tyr719Ter) rs1057516380
NM_000053.4(ATP7B):c.2165dup (p.Arg723fs) rs768729972
NM_000053.4(ATP7B):c.2217dup (p.Ala740fs) rs1555291207
NM_000053.4(ATP7B):c.2233_2234del (p.Leu745fs) rs1555291195
NM_000053.4(ATP7B):c.2251G>T (p.Ala751Ser) rs1555291181
NM_000053.4(ATP7B):c.2279C>T (p.Pro760Leu) rs766907687
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.2326C>G (p.Leu776Val) rs1217463955
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.2354A>G (p.Lys785Arg) rs1555291085
NM_000053.4(ATP7B):c.2356-1G>A rs1555290925
NM_000053.4(ATP7B):c.2356-1G>C rs1555290925
NM_000053.4(ATP7B):c.2390C>T (p.Ser797Phe) rs1555290883
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.2480G>C (p.Arg827Pro) rs368589213
NM_000053.4(ATP7B):c.2480G>T (p.Arg827Leu) rs368589213
NM_000053.4(ATP7B):c.2513del (p.Lys838fs) rs777362050
NM_000053.4(ATP7B):c.2532del (p.Val845fs) rs755709270
NM_000053.4(ATP7B):c.2570T>C (p.Ile857Thr) rs1057520235
NM_000053.4(ATP7B):c.2575+1G>A rs766149114
NM_000053.4(ATP7B):c.2576-2A>G rs757265256
NM_000053.4(ATP7B):c.2591T>G (p.Val864Gly) rs1555288669
NM_000053.4(ATP7B):c.2620G>C (p.Ala874Pro) rs376355660
NM_000053.4(ATP7B):c.2672G>A (p.Gly891Asp) rs483352684
NM_000053.4(ATP7B):c.268_270del (p.Lys90del) rs751970838
NM_000053.4(ATP7B):c.2730+1G>A rs1057516425
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.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.2845GTT[1] (p.Val950del) rs1424494639
NM_000053.4(ATP7B):c.2939G>A (p.Cys980Tyr) rs1038582488
NM_000053.4(ATP7B):c.2962G>C (p.Gly988Arg) rs199623434
NM_000053.4(ATP7B):c.2975C>A (p.Pro992His) rs201038679
NM_000053.4(ATP7B):c.2980G>T (p.Ala994Ser) rs1555287372
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val) rs775055397
NM_000053.4(ATP7B):c.3061-12T>A rs1045194246
NM_000053.4(ATP7B):c.3071T>C (p.Val1024Ala) rs1416453532
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.3104G>T (p.Gly1035Val) rs753594031
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.3157dup (p.Leu1053fs) rs1555286522
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.3244-2A>G rs786204584
NM_000053.4(ATP7B):c.3247C>T (p.Leu1083Phe) rs1286080173
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.3301G>A (p.Gly1101Arg) rs786204483
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.3402del (p.Ala1135fs) rs137853281
NM_000053.4(ATP7B):c.3431_3433del (p.Phe1144del) rs1555285393
NM_000053.4(ATP7B):c.3449del (p.Asn1150fs) rs1555285380
NM_000053.4(ATP7B):c.3451C>G (p.Arg1151Gly) rs755554442
NM_000053.4(ATP7B):c.3452G>A (p.Arg1151His) rs377297166
NM_000053.4(ATP7B):c.3502G>T (p.Ala1168Ser) rs777879359
NM_000053.4(ATP7B):c.3506T>C (p.Met1169Thr) rs1555285311
NM_000053.4(ATP7B):c.3529C>T (p.Gln1177Ter) rs1057516479
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly) rs587783315
NM_000053.4(ATP7B):c.3552dup (p.Asp1185Ter) rs748924063
NM_000053.4(ATP7B):c.3556+1G>T rs184388696
NM_000053.4(ATP7B):c.3598C>T (p.Gln1200Ter) rs786204658
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.3649_3654del (p.Val1217_Leu1218del) rs781266802
NM_000053.4(ATP7B):c.3659C>T (p.Thr1220Met) rs193922107
NM_000053.4(ATP7B):c.3662G>A (p.Gly1221Glu) rs1486594906
NM_000053.4(ATP7B):c.3662_3664del (p.Gly1221del) rs886042519
NM_000053.4(ATP7B):c.3664del (p.Asp1222fs) rs886042519
NM_000053.4(ATP7B):c.3700-1G>A rs1555284021
NM_000053.4(ATP7B):c.3722C>T (p.Ala1241Val) rs1555283994
NM_000053.4(ATP7B):c.3733C>G (p.Pro1245Ala) rs587783316
NM_000053.4(ATP7B):c.3767A>G (p.Gln1256Arg) rs1555283946
NM_000053.4(ATP7B):c.3800A>C (p.Asp1267Ala) rs1555283916
NM_000053.4(ATP7B):c.3800del (p.Asp1267fs) rs1057516740
NM_000053.4(ATP7B):c.3809del (p.Asn1270fs) rs1555283900
NM_000053.4(ATP7B):c.3818C>A (p.Pro1273Gln) rs758355520
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.3852_3875del (p.Gly1285_Ile1292del) rs1555283826
NM_000053.4(ATP7B):c.3863C>G (p.Thr1288Arg) rs373748155
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.3904-2A>G rs1057517233
NM_000053.4(ATP7B):c.3942_3943del (p.Lys1315fs) rs1057516227
NM_000053.4(ATP7B):c.3948del (p.Thr1317fs) rs1057516228
NM_000053.4(ATP7B):c.3971A>C (p.Asn1324Thr) rs760285767
NM_000053.4(ATP7B):c.4006del (p.Ile1336fs) rs1555283564
NM_000053.4(ATP7B):c.4022-2A>C rs1555282816
NM_000053.4(ATP7B):c.4051C>T (p.Gln1351Ter) rs786204578
NM_000053.4(ATP7B):c.4063G>A (p.Gly1355Ser) rs1555282751
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.4106C>T (p.Ser1369Leu) rs1555282678
NM_000053.4(ATP7B):c.4114C>T (p.Gln1372Ter) rs755584106
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.4125-2A>G rs1555282347
NM_000053.4(ATP7B):c.4242del (p.Arg1415fs) rs1057517191
NM_000053.4(ATP7B):c.4283dup (p.Ser1429fs) rs1555282191
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.433G>T (p.Val145Phe) rs183365083
NM_000053.4(ATP7B):c.4387C>T (p.Gln1463Ter) rs1392030070
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs) rs558037268
NM_000053.4(ATP7B):c.525dup (p.Val176fs) rs558037268
NM_000053.4(ATP7B):c.650T>G (p.Leu217Ter) rs1555296472
NM_000053.4(ATP7B):c.738dup (p.Glu247Ter) rs1555296414
NM_000053.4(ATP7B):c.764_775del (p.His255_Thr258del) rs1417723997
NM_000053.4(ATP7B):c.778dup (p.Gln260fs) rs786204570
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.994G>T (p.Glu332Ter) rs761084829
NM_001243182.1(ATP7B):c.-117delinsATCGGC rs1555304632

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