ClinVar Miner

List of variants reported as uncertain significance for Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 466
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HGVS dbSNP gnomAD frequency
NM_000052.7(ATP7A):c.2068G>C (p.Glu690Gln) rs72554641 0.00004
NM_000052.7(ATP7A):c.3790A>G (p.Ile1264Val) rs782323741 0.00003
NM_000052.7(ATP7A):c.4073A>G (p.Asn1358Ser) rs1423719687 0.00003
NM_000052.7(ATP7A):c.4369G>T (p.Val1457Phe) rs1189381967 0.00003
NM_000052.7(ATP7A):c.1172G>C (p.Cys391Ser) rs1557231883 0.00002
NM_000052.7(ATP7A):c.119A>C (p.Lys40Thr) rs1557229686 0.00002
NM_000052.7(ATP7A):c.120G>A (p.Lys40=) rs1400740365 0.00002
NM_000052.7(ATP7A):c.1667T>C (p.Ile556Thr) rs2077752124 0.00002
NM_000052.7(ATP7A):c.2112G>C (p.Gln704His) rs1471996737 0.00002
NM_000052.7(ATP7A):c.3294+5A>C rs370596012 0.00002
NM_000052.7(ATP7A):c.3518T>C (p.Leu1173Pro) rs1267460544 0.00002
NM_000052.7(ATP7A):c.1154G>A (p.Gly385Asp) rs1557231879 0.00001
NM_000052.7(ATP7A):c.1286A>G (p.Glu429Gly) rs2077660217 0.00001
NM_000052.7(ATP7A):c.1376C>T (p.Ser459Leu) rs1557232786 0.00001
NM_000052.7(ATP7A):c.1400C>G (p.Thr467Ser) rs782012781 0.00001
NM_000052.7(ATP7A):c.1487G>C (p.Gly496Ala) rs1193696385 0.00001
NM_000052.7(ATP7A):c.1534C>T (p.Arg512Trp) rs1030215501 0.00001
NM_000052.7(ATP7A):c.1597A>G (p.Asn533Asp) rs1057524455 0.00001
NM_000052.7(ATP7A):c.1683A>C (p.Glu561Asp) rs2077752277 0.00001
NM_000052.7(ATP7A):c.1690G>A (p.Gly564Ser) rs782205068 0.00001
NM_000052.7(ATP7A):c.1714G>A (p.Gly572Arg) rs1569549834 0.00001
NM_000052.7(ATP7A):c.182C>T (p.Thr61Ile) rs1293902838 0.00001
NM_000052.7(ATP7A):c.1876G>C (p.Gly626Arg) rs782396059 0.00001
NM_000052.7(ATP7A):c.2071G>A (p.Glu691Lys) rs944415019 0.00001
NM_000052.7(ATP7A):c.2158T>G (p.Cys720Gly) rs1569549892 0.00001
NM_000052.7(ATP7A):c.2287A>G (p.Ile763Val) rs2077837721 0.00001
NM_000052.7(ATP7A):c.2406+6G>A rs782307719 0.00001
NM_000052.7(ATP7A):c.2450C>T (p.Ala817Val) rs781879594 0.00001
NM_000052.7(ATP7A):c.2573T>G (p.Val858Gly) rs782094714 0.00001
NM_000052.7(ATP7A):c.2588T>C (p.Ile863Thr) rs2077859225 0.00001
NM_000052.7(ATP7A):c.2687A>G (p.Gln896Arg) rs1324162252 0.00001
NM_000052.7(ATP7A):c.2765A>G (p.Glu922Gly) rs2077896880 0.00001
NM_000052.7(ATP7A):c.2780A>G (p.Lys927Arg) rs1557235625 0.00001
NM_000052.7(ATP7A):c.2801C>G (p.Ala934Gly) rs868944171 0.00001
NM_000052.7(ATP7A):c.2819A>G (p.Tyr940Cys) rs1557235711 0.00001
NM_000052.7(ATP7A):c.2846C>A (p.Ser949Tyr) rs782807828 0.00001
NM_000052.7(ATP7A):c.2957G>A (p.Arg986Gln) rs781995242 0.00001
NM_000052.7(ATP7A):c.3039G>A (p.Met1013Ile) rs782746249 0.00001
NM_000052.7(ATP7A):c.305A>G (p.His102Arg) rs1253495703 0.00001
NM_000052.7(ATP7A):c.3070A>G (p.Ile1024Val) rs1341604631 0.00001
NM_000052.7(ATP7A):c.3337G>A (p.Val1113Ile) rs879254006 0.00001
NM_000052.7(ATP7A):c.3424A>G (p.Ile1142Val) rs1831643767 0.00001
NM_000052.7(ATP7A):c.3428A>G (p.Lys1143Arg) rs782486797 0.00001
NM_000052.7(ATP7A):c.3463G>C (p.Glu1155Gln) rs2077996609 0.00001
NM_000052.7(ATP7A):c.3527A>T (p.Gln1176Leu) rs1250288679 0.00001
NM_000052.7(ATP7A):c.3553C>T (p.Arg1185Trp) rs781907456 0.00001
NM_000052.7(ATP7A):c.3605T>C (p.Phe1202Ser) rs2078030949 0.00001
NM_000052.7(ATP7A):c.3641T>C (p.Val1214Ala) rs868913949 0.00001
NM_000052.7(ATP7A):c.3658+13A>G rs797045381 0.00001
NM_000052.7(ATP7A):c.3776A>T (p.Lys1259Ile) rs962646396 0.00001
NM_000052.7(ATP7A):c.3788C>G (p.Ser1263Cys) rs372066609 0.00001
NM_000052.7(ATP7A):c.3811A>G (p.Thr1271Ala) rs2078057282 0.00001
NM_000052.7(ATP7A):c.3894G>C (p.Met1298Ile) rs782499160 0.00001
NM_000052.7(ATP7A):c.3952A>G (p.Ile1318Val) rs2149111836 0.00001
NM_000052.7(ATP7A):c.4021G>A (p.Val1341Ile) rs2522420921 0.00001
NM_000052.7(ATP7A):c.4227-1G>A rs782283173 0.00001
NM_000052.7(ATP7A):c.4286A>G (p.Lys1429Arg) rs2078083449 0.00001
NM_000052.7(ATP7A):c.4316G>C (p.Gly1439Ala) rs2522427557 0.00001
NM_000052.7(ATP7A):c.4415G>A (p.Arg1472His) rs1204475767 0.00001
NM_000052.7(ATP7A):c.488A>G (p.His163Arg) rs1164298315 0.00001
NM_000052.7(ATP7A):c.548A>G (p.His183Arg) rs1186296000 0.00001
NM_000052.7(ATP7A):c.686T>C (p.Ile229Thr) rs1557231750 0.00001
NM_000052.7(ATP7A):c.796T>A (p.Ser266Thr) rs2077656822 0.00001
NM_000052.7(ATP7A):c.964A>G (p.Asn322Asp) rs1413043733 0.00001
NC_000023.10:g.(?_76829695)_(77381327_?)dup
NC_000023.10:g.(?_76888675)_(77264780_?)dup
NC_000023.10:g.(?_77150786)_(77289339_?)dup
NC_000023.10:g.(?_77227108)_(77305902_?)dup
NC_000023.10:g.(?_77227129)_(77302077_?)dup
NC_000023.10:g.(?_77227139)_(77275915_?)dup
NC_000023.10:g.(?_77227139)_(77284961_?)dup
NC_000023.10:g.(?_77227139)_(77381327_?)dup
NC_000023.10:g.(?_77243738)_(77302067_?)dup
NC_000023.10:g.(?_77264579)_(77264780_?)dup
NC_000023.10:g.(?_77264589)_(77264770_?)dup
NC_000023.10:g.(?_77266653)_(77268629_?)dup
NC_000023.10:g.(?_77266653)_(77302067_?)dup
NC_000023.10:g.(?_77266663)_(77268619_?)dup
NC_000023.10:g.(?_77270149)_(77305902_?)dup
NC_000023.10:g.(?_77275721)_(77381327_?)dup
NC_000023.10:g.(?_77275731)_(77302067_?)dup
NC_000023.10:g.(?_77276422)_(77276596_?)del
NC_000023.10:g.(?_77284727)_(77302087_?)dup
NC_000023.10:g.(?_77298795)_(77302067_?)dup
NC_000023.10:g.(?_77300947)_(77381327_?)dup
NM_000052.7(ATP7A):c.1004T>C (p.Ile335Thr) rs1464678343
NM_000052.7(ATP7A):c.1005A>G (p.Ile335Met) rs2149083240
NM_000052.7(ATP7A):c.1037G>T (p.Ser346Ile) rs2522294418
NM_000052.7(ATP7A):c.1047T>A (p.Ser349Arg) rs2077658544
NM_000052.7(ATP7A):c.1052T>A (p.Val351Asp) rs2522294474
NM_000052.7(ATP7A):c.1060A>T (p.Thr354Ser) rs1557231859
NM_000052.7(ATP7A):c.1070C>T (p.Ser357Phe) rs2522294528
NM_000052.7(ATP7A):c.1085C>A (p.Ser362Tyr)
NM_000052.7(ATP7A):c.1126A>G (p.Thr376Ala) rs782616685
NM_000052.7(ATP7A):c.1127C>A (p.Thr376Lys) rs2077659011
NM_000052.7(ATP7A):c.112C>T (p.His38Tyr) rs1603378831
NM_000052.7(ATP7A):c.1136C>G (p.Thr379Ser) rs1603381546
NM_000052.7(ATP7A):c.1148T>C (p.Ile383Thr) rs2522294811
NM_000052.7(ATP7A):c.1157T>G (p.Met386Arg) rs2149083331
NM_000052.7(ATP7A):c.1159A>C (p.Thr387Pro) rs1569549600
NM_000052.7(ATP7A):c.1166A>G (p.Asn389Ser) rs2522294879
NM_000052.7(ATP7A):c.1177C>G (p.Gln393Glu) rs2522294916
NM_000052.7(ATP7A):c.1190G>C (p.Gly397Ala) rs1557231895
NM_000052.7(ATP7A):c.1202A>G (p.Lys401Arg)
NM_000052.7(ATP7A):c.1207C>T (p.Pro403Ser) rs2522295027
NM_000052.7(ATP7A):c.121-14T>G rs2522288601
NM_000052.7(ATP7A):c.1211G>T (p.Gly404Val) rs782000271
NM_000052.7(ATP7A):c.1220C>T (p.Ser407Phe) rs2522295083
NM_000052.7(ATP7A):c.1238C>T (p.Ala413Val) rs2077659809
NM_000052.7(ATP7A):c.1242T>G (p.Asn414Lys) rs2522295187
NM_000052.7(ATP7A):c.1253C>T (p.Thr418Ile)
NM_000052.7(ATP7A):c.1266T>A (p.Asp422Glu)
NM_000052.7(ATP7A):c.1297G>A (p.Gly433Arg) rs2522295430
NM_000052.7(ATP7A):c.1306G>C (p.Glu436Gln) rs782717793
NM_000052.7(ATP7A):c.1334C>T (p.Ser445Leu) rs2149083480
NM_000052.7(ATP7A):c.1336+3A>G rs2522295527
NM_000052.7(ATP7A):c.1348C>T (p.Pro450Ser) rs2522314127
NM_000052.7(ATP7A):c.1358_1363del (p.Val453_Ile454del)
NM_000052.7(ATP7A):c.1361T>G (p.Ile454Arg)
NM_000052.7(ATP7A):c.136A>G (p.Lys46Glu) rs1603381269
NM_000052.7(ATP7A):c.1400C>A (p.Thr467Asn)
NM_000052.7(ATP7A):c.1402A>C (p.Asn468His) rs2522314358
NM_000052.7(ATP7A):c.1414A>G (p.Thr472Ala) rs2149087825
NM_000052.7(ATP7A):c.143C>G (p.Ala48Gly) rs2522288721
NM_000052.7(ATP7A):c.1478A>G (p.Gln493Arg) rs2077719880
NM_000052.7(ATP7A):c.1498G>A (p.Ala500Thr) rs2149087885
NM_000052.7(ATP7A):c.14T>C (p.Met5Thr) rs2077547648
NM_000052.7(ATP7A):c.1523G>A (p.Arg508Gln) rs2522314763
NM_000052.7(ATP7A):c.152T>C (p.Ile51Thr)
NM_000052.7(ATP7A):c.1540G>A (p.Glu514Lys) rs2522314807
NM_000052.7(ATP7A):c.1562T>C (p.Val521Ala)
NM_000052.7(ATP7A):c.1562T>G (p.Val521Gly)
NM_000052.7(ATP7A):c.1585G>A (p.Glu529Lys)
NM_000052.7(ATP7A):c.1592G>T (p.Arg531Met) rs782048861
NM_000052.7(ATP7A):c.1606G>C (p.Val536Leu) rs2522325542
NM_000052.7(ATP7A):c.1611A>G (p.Ile537Met) rs2522325581
NM_000052.7(ATP7A):c.1621A>G (p.Met541Val) rs1557233382
NM_000052.7(ATP7A):c.1645C>G (p.Leu549Val) rs2522325710
NM_000052.7(ATP7A):c.164A>T (p.Lys55Ile) rs2522288810
NM_000052.7(ATP7A):c.1654G>A (p.Gly552Arg) rs2522325720
NM_000052.7(ATP7A):c.165A>C (p.Lys55Asn) rs2522288819
NM_000052.7(ATP7A):c.1670A>C (p.Glu557Ala) rs2522325762
NM_000052.7(ATP7A):c.1681G>A (p.Glu561Lys) rs2077752247
NM_000052.7(ATP7A):c.1681G>C (p.Glu561Gln) rs2077752247
NM_000052.7(ATP7A):c.1684G>A (p.Gly562Arg) rs2522325822
NM_000052.7(ATP7A):c.1708-19A>G rs2522340847
NM_000052.7(ATP7A):c.1717A>T (p.Met573Leu) rs2522340980
NM_000052.7(ATP7A):c.1730C>T (p.Ser577Phe) rs2149093499
NM_000052.7(ATP7A):c.1748A>G (p.Glu583Gly)
NM_000052.7(ATP7A):c.1753A>G (p.Ser585Gly) rs2077799245
NM_000052.7(ATP7A):c.1754G>C (p.Ser585Thr)
NM_000052.7(ATP7A):c.1760C>T (p.Thr587Ile) rs2522341172
NM_000052.7(ATP7A):c.1767C>G (p.His589Gln) rs1603384813
NM_000052.7(ATP7A):c.1776C>G (p.Ile592Met)
NM_000052.7(ATP7A):c.1777C>G (p.Leu593Val) rs2149093524
NM_000052.7(ATP7A):c.1780T>C (p.Tyr594His) rs2522341282
NM_000052.7(ATP7A):c.1793C>T (p.Ala598Val) rs782386693
NM_000052.7(ATP7A):c.1795C>G (p.Leu599Val) rs2149093539
NM_000052.7(ATP7A):c.17G>A (p.Gly6Asp) rs2077547692
NM_000052.7(ATP7A):c.1802C>G (p.Thr601Ser) rs371777895
NM_000052.7(ATP7A):c.1806C>A (p.Asn602Lys) rs1557234099
NM_000052.7(ATP7A):c.1808A>G (p.Lys603Arg) rs2522341379
NM_000052.7(ATP7A):c.1810G>A (p.Ala604Thr) rs2149093552
NM_000052.7(ATP7A):c.1814A>G (p.His605Arg) rs1020034878
NM_000052.7(ATP7A):c.1850A>G (p.Asp617Gly) rs782528311
NM_000052.7(ATP7A):c.1856T>C (p.Ile619Thr) rs1569549841
NM_000052.7(ATP7A):c.1864A>G (p.Ile622Val) rs1399879043
NM_000052.7(ATP7A):c.1867G>C (p.Glu623Gln) rs1382569560
NM_000052.7(ATP7A):c.1869+3A>T
NM_000052.7(ATP7A):c.1869+4A>G rs2522341595
NM_000052.7(ATP7A):c.1892T>C (p.Leu631Ser) rs876661241
NM_000052.7(ATP7A):c.1894G>A (p.Val632Ile) rs2522348043
NM_000052.7(ATP7A):c.1897A>G (p.Lys633Glu) rs2149094957
NM_000052.7(ATP7A):c.1905T>A (p.Asp635Glu) rs2522348126
NM_000052.7(ATP7A):c.1906C>T (p.Arg636Trp) rs1057523112
NM_000052.7(ATP7A):c.1916G>A (p.Ser639Asn) rs781910954
NM_000052.7(ATP7A):c.1924G>A (p.Asp642Asn) rs2077822731
NM_000052.7(ATP7A):c.1924G>T (p.Asp642Tyr)
NM_000052.7(ATP7A):c.1937A>C (p.Glu646Ala) rs2077822914
NM_000052.7(ATP7A):c.1945_1946+2dup rs2077822992
NM_000052.7(ATP7A):c.1950G>C (p.Trp650Cys)
NM_000052.7(ATP7A):c.1966G>C (p.Val656Leu) rs2077825139
NM_000052.7(ATP7A):c.1972C>G (p.Leu658Val) rs782333354
NM_000052.7(ATP7A):c.1979T>C (p.Phe660Ser) rs920452357
NM_000052.7(ATP7A):c.1982G>A (p.Cys661Tyr) rs1209949067
NM_000052.7(ATP7A):c.1984A>T (p.Ile662Phe) rs2522349735
NM_000052.7(ATP7A):c.1987C>T (p.Pro663Ser)
NM_000052.7(ATP7A):c.1988C>T (p.Pro663Leu) rs2522349752
NM_000052.7(ATP7A):c.1A>C (p.Met1Leu)
NM_000052.7(ATP7A):c.2013G>A (p.Met671Ile) rs371215281
NM_000052.7(ATP7A):c.2013G>C (p.Met671Ile)
NM_000052.7(ATP7A):c.2015T>C (p.Met672Thr) rs1356535025
NM_000052.7(ATP7A):c.2019_2021dup (p.Val673_Met674insIle) rs1569549885
NM_000052.7(ATP7A):c.2030A>G (p.His677Arg) rs2522350026
NM_000052.7(ATP7A):c.2033T>G (p.Phe678Cys) rs2522350046
NM_000052.7(ATP7A):c.2042T>C (p.Leu681Pro)
NM_000052.7(ATP7A):c.2048A>G (p.His683Arg) rs2522350113
NM_000052.7(ATP7A):c.2059A>C (p.Met687Leu)
NM_000052.7(ATP7A):c.2059A>T (p.Met687Leu) rs2522350177
NM_000052.7(ATP7A):c.2076_2078del (p.Met692del) rs2522350270
NM_000052.7(ATP7A):c.208G>C (p.Gly70Arg)
NM_000052.7(ATP7A):c.2093C>G (p.Ser698Cys) rs2077826335
NM_000052.7(ATP7A):c.2093C>T (p.Ser698Phe) rs2077826335
NM_000052.7(ATP7A):c.2096T>A (p.Met699Lys) rs2149095258
NM_000052.7(ATP7A):c.2112G>T (p.Gln704His) rs1471996737
NM_000052.7(ATP7A):c.2149T>C (p.Phe717Leu) rs1557234537
NM_000052.7(ATP7A):c.214G>T (p.Asp72Tyr) rs2077650482
NM_000052.7(ATP7A):c.2167G>C (p.Val723Leu) rs1223126237
NM_000052.7(ATP7A):c.2170C>G (p.Gln724Glu) rs2522350713
NM_000052.7(ATP7A):c.2172+2C>T rs2077827112
NM_000052.7(ATP7A):c.2178C>G (p.Phe726Leu) rs572956005
NM_000052.7(ATP7A):c.2182G>C (p.Gly728Arg) rs2077837052
NM_000052.7(ATP7A):c.2197A>G (p.Ile733Val)
NM_000052.7(ATP7A):c.2202G>C (p.Gln734His) rs2149095977
NM_000052.7(ATP7A):c.2207A>T (p.Tyr736Phe) rs1569549929
NM_000052.7(ATP7A):c.2219A>G (p.Lys740Arg) rs2077837209
NM_000052.7(ATP7A):c.2230G>A (p.Ala744Thr) rs2522354556
NM_000052.7(ATP7A):c.2267T>C (p.Ile756Thr)
NM_000052.7(ATP7A):c.2267T>G (p.Ile756Ser)
NM_000052.7(ATP7A):c.2340C>A (p.Phe780Leu) rs2077838145
NM_000052.7(ATP7A):c.2345A>G (p.Asp782Gly) rs2522354995
NM_000052.7(ATP7A):c.2353C>A (p.Pro785Thr) rs1057523512
NM_000052.7(ATP7A):c.2365G>T (p.Val789Leu) rs781834675
NM_000052.7(ATP7A):c.236A>G (p.Asp79Gly) rs2522289170
NM_000052.7(ATP7A):c.2373T>G (p.Ile791Met) rs2077838404
NM_000052.7(ATP7A):c.2404A>G (p.Lys802Glu) rs2522355214
NM_000052.7(ATP7A):c.2407G>A (p.Gly803Ser) rs2522358780
NM_000052.7(ATP7A):c.2422G>T (p.Ala808Ser) rs2522358839
NM_000052.7(ATP7A):c.2429C>A (p.Ala810Glu) rs1382938061
NM_000052.7(ATP7A):c.2438T>C (p.Ile813Thr) rs1384601697
NM_000052.7(ATP7A):c.2456A>G (p.Glu819Gly) rs2522358992
NM_000052.7(ATP7A):c.2458G>C (p.Ala820Pro) rs1557234938
NM_000052.7(ATP7A):c.2467G>C (p.Val823Leu)
NM_000052.7(ATP7A):c.2470A>T (p.Thr824Ser) rs2522359081
NM_000052.7(ATP7A):c.2473C>G (p.Leu825Val)
NM_000052.7(ATP7A):c.2486A>G (p.Asn829Ser)
NM_000052.7(ATP7A):c.2491C>T (p.Leu831Phe) rs936589739
NM_000052.7(ATP7A):c.2498+3A>T rs1603386005
NM_000052.7(ATP7A):c.2499-3C>T rs2077858280
NM_000052.7(ATP7A):c.2513A>G (p.Asp838Gly) rs1603386154
NM_000052.7(ATP7A):c.251T>C (p.Leu84Ser) rs2522289247
NM_000052.7(ATP7A):c.2521C>T (p.Leu841Phe) rs2522361855
NM_000052.7(ATP7A):c.2536G>A (p.Asp846Asn)
NM_000052.7(ATP7A):c.2540T>C (p.Ile847Thr) rs2149097365
NM_000052.7(ATP7A):c.257A>G (p.Asp86Gly) rs2149082599
NM_000052.7(ATP7A):c.2603T>C (p.Met868Thr) rs2149097408
NM_000052.7(ATP7A):c.2624C>G (p.Thr875Arg) rs2522362314
NM_000052.7(ATP7A):c.2626+5G>T rs2149097418
NM_000052.7(ATP7A):c.2632G>A (p.Ala878Thr)
NM_000052.7(ATP7A):c.2635A>T (p.Met879Leu) rs2077895767
NM_000052.7(ATP7A):c.2637G>T (p.Met879Ile)
NM_000052.7(ATP7A):c.2654C>A (p.Pro885His) rs2077895902
NM_000052.7(ATP7A):c.2662A>C (p.Thr888Pro) rs2522372520
NM_000052.7(ATP7A):c.2666T>C (p.Val889Ala) rs2522372548
NM_000052.7(ATP7A):c.2747T>C (p.Ile916Thr) rs2077896781
NM_000052.7(ATP7A):c.2761G>A (p.Glu921Lys) rs2149099719
NM_000052.7(ATP7A):c.2761G>C (p.Glu921Gln) rs2149099719
NM_000052.7(ATP7A):c.2781+5C>T rs2522372990
NM_000052.7(ATP7A):c.2788A>G (p.Ile930Val) rs2077901851
NM_000052.7(ATP7A):c.2790C>G (p.Ile930Met) rs2149100114
NM_000052.7(ATP7A):c.279G>A (p.Thr93=)
NM_000052.7(ATP7A):c.2815G>A (p.Gly939Ser) rs1569550056
NM_000052.7(ATP7A):c.2827C>T (p.Pro943Ser)
NM_000052.7(ATP7A):c.2831T>C (p.Phe944Ser) rs2077902236
NM_000052.7(ATP7A):c.2842G>A (p.Val948Ile) rs2077902319
NM_000052.7(ATP7A):c.2842G>T (p.Val948Phe) rs2077902319
NM_000052.7(ATP7A):c.2851G>A (p.Ala951Thr) rs1557235719
NM_000052.7(ATP7A):c.2870T>A (p.Ile957Asn) rs781922067
NM_000052.7(ATP7A):c.2870T>G (p.Ile957Ser)
NM_000052.7(ATP7A):c.2909A>G (p.Tyr970Cys) rs1557235740
NM_000052.7(ATP7A):c.2918G>T (p.Gly973Val) rs2522392138
NM_000052.7(ATP7A):c.2936C>G (p.Ser979Cys) rs2522392203
NM_000052.7(ATP7A):c.2938C>G (p.Arg980Gly) rs72554649
NM_000052.7(ATP7A):c.2977A>G (p.Ile993Val) rs1353488746
NM_000052.7(ATP7A):c.2984T>G (p.Val995Gly) rs2077967548
NM_000052.7(ATP7A):c.3007T>C (p.Ser1003Pro) rs77671794
NM_000052.7(ATP7A):c.3028A>T (p.Thr1010Ser) rs782480109
NM_000052.7(ATP7A):c.3028_3030delinsGTG (p.Thr1010Val) rs1557236745
NM_000052.7(ATP7A):c.302A>G (p.Asp101Gly) rs1569549582
NM_000052.7(ATP7A):c.3037_3038delinsGA (p.Met1013Glu) rs1557236747
NM_000052.7(ATP7A):c.3055G>A (p.Gly1019Ser) rs2077968146
NM_000052.7(ATP7A):c.3077T>C (p.Ile1026Thr) rs2149104943
NM_000052.7(ATP7A):c.308T>G (p.Ile103Ser)
NM_000052.7(ATP7A):c.3094T>G (p.Leu1032Val)
NM_000052.7(ATP7A):c.3102G>A (p.Met1034Ile) rs2522392697
NM_000052.7(ATP7A):c.3111+6A>G rs2077968712
NM_000052.7(ATP7A):c.3118G>A (p.Val1040Ile) rs782482837
NM_000052.7(ATP7A):c.3119T>C (p.Val1040Ala) rs2077983152
NM_000052.7(ATP7A):c.3153C>A (p.His1051Gln) rs142998552
NM_000052.7(ATP7A):c.3157A>G (p.Thr1053Ala) rs2522397044
NM_000052.7(ATP7A):c.3158C>A (p.Thr1053Asn)
NM_000052.7(ATP7A):c.3179A>G (p.Lys1060Arg) rs2077983527
NM_000052.7(ATP7A):c.3184C>G (p.Leu1062Val) rs1277842658
NM_000052.7(ATP7A):c.3201A>C (p.Arg1067Ser) rs2149106147
NM_000052.7(ATP7A):c.3245G>A (p.Ser1082Asn) rs1603389390
NM_000052.7(ATP7A):c.3247A>G (p.Asn1083Asp) rs2522397316
NM_000052.7(ATP7A):c.3256C>T (p.His1086Tyr) rs2522397337
NM_000052.7(ATP7A):c.3269C>T (p.Thr1090Ile) rs2149106178
NM_000052.7(ATP7A):c.3271G>A (p.Ala1091Thr) rs2522397414
NM_000052.7(ATP7A):c.3278C>T (p.Thr1093Ile) rs996808810
NM_000052.7(ATP7A):c.3281A>T (p.Lys1094Ile) rs2522397464
NM_000052.7(ATP7A):c.3286T>G (p.Cys1096Gly) rs2522397486
NM_000052.7(ATP7A):c.3289A>C (p.Lys1097Gln) rs1557237081
NM_000052.7(ATP7A):c.3290A>G (p.Lys1097Arg) rs2522397517
NM_000052.7(ATP7A):c.3293A>T (p.Gln1098Leu)
NM_000052.7(ATP7A):c.3294+3A>G
NM_000052.7(ATP7A):c.329C>T (p.Thr110Ile)
NM_000052.7(ATP7A):c.3302A>G (p.Asp1101Gly) rs2522401043
NM_000052.7(ATP7A):c.3326T>C (p.Ile1109Thr) rs2149107157
NM_000052.7(ATP7A):c.3333C>A (p.Phe1111Leu) rs2522401120
NM_000052.7(ATP7A):c.3337G>C (p.Val1113Leu) rs879254006
NM_000052.7(ATP7A):c.3346G>A (p.Gly1116Ser) rs2149107164
NM_000052.7(ATP7A):c.334G>A (p.Gly112Ser) rs2522289591
NM_000052.7(ATP7A):c.3367G>A (p.Val1123Ile) rs2077995918
NM_000052.7(ATP7A):c.3367G>T (p.Val1123Phe) rs2077995918
NM_000052.7(ATP7A):c.3377T>C (p.Ile1126Thr)
NM_000052.7(ATP7A):c.3389T>C (p.Leu1130Pro)
NM_000052.7(ATP7A):c.3391C>T (p.His1131Tyr) rs2077996076
NM_000052.7(ATP7A):c.3397A>G (p.Asn1133Asp)
NM_000052.7(ATP7A):c.3415G>A (p.Asp1139Asn) rs2149107203
NM_000052.7(ATP7A):c.3421A>C (p.Asn1141His) rs2149107206
NM_000052.7(ATP7A):c.3425T>C (p.Ile1142Thr) rs2522401361
NM_000052.7(ATP7A):c.3434C>A (p.Ala1145Glu) rs374154862
NM_000052.7(ATP7A):c.3461A>G (p.Asn1154Ser) rs1288867080
NM_000052.7(ATP7A):c.3476C>T (p.Thr1159Ile) rs1557237452
NM_000052.7(ATP7A):c.3493A>G (p.Ile1165Val)
NM_000052.7(ATP7A):c.3494T>C (p.Ile1165Thr) rs2522401593
NM_000052.7(ATP7A):c.3498T>A (p.Asp1166Glu) rs2077996988
NM_000052.7(ATP7A):c.3505A>C (p.Ile1169Leu)
NM_000052.7(ATP7A):c.3514G>A (p.Ala1172Thr) rs1557237993
NM_000052.7(ATP7A):c.3517C>T (p.Leu1173Phe) rs1480388236
NM_000052.7(ATP7A):c.3518_3526delTTAATGCTC (p.Leu1173_Ala1175del) rs782588630
NM_000052.7(ATP7A):c.3521A>T (p.Asn1174Ile) rs876661235
NM_000052.7(ATP7A):c.352A>G (p.Ile118Val) rs2522289690
NM_000052.7(ATP7A):c.3545T>C (p.Ile1182Thr) rs782588862
NM_000052.7(ATP7A):c.3602A>T (p.Asp1201Val) rs2522410772
NM_000052.7(ATP7A):c.3604T>G (p.Phe1202Val) rs2522410779
NM_000052.7(ATP7A):c.3625A>G (p.Lys1209Glu) rs2522410856
NM_000052.7(ATP7A):c.3652G>C (p.Val1218Leu)
NM_000052.7(ATP7A):c.3653T>C (p.Val1218Ala)
NM_000052.7(ATP7A):c.3658+4A>T rs2522410956
NM_000052.7(ATP7A):c.3671G>A (p.Gly1224Asp)
NM_000052.7(ATP7A):c.3671G>T (p.Gly1224Val)
NM_000052.7(ATP7A):c.3685G>A (p.Ala1229Thr) rs2522414446
NM_000052.7(ATP7A):c.3689A>G (p.Asp1230Gly) rs2522414458
NM_000052.7(ATP7A):c.3690C>A (p.Asp1230Glu)
NM_000052.7(ATP7A):c.3703G>A (p.Glu1235Lys) rs2149110482
NM_000052.7(ATP7A):c.3707C>G (p.Ala1236Gly) rs1308670071
NM_000052.7(ATP7A):c.3724A>G (p.Ile1242Val) rs1603390828
NM_000052.7(ATP7A):c.3724A>T (p.Ile1242Phe) rs1603390828
NM_000052.7(ATP7A):c.3737T>C (p.Met1246Thr) rs2522414600
NM_000052.7(ATP7A):c.373G>C (p.Val125Leu) rs782688596
NM_000052.7(ATP7A):c.3761C>A (p.Thr1254Asn) rs2522414619
NM_000052.7(ATP7A):c.3761C>T (p.Thr1254Ile) rs2522414619
NM_000052.7(ATP7A):c.3781G>T (p.Ala1261Ser) rs2078041778
NM_000052.7(ATP7A):c.3788C>A (p.Ser1263Tyr) rs372066609
NM_000052.7(ATP7A):c.3791T>C (p.Ile1264Thr) rs2078042001
NM_000052.7(ATP7A):c.3801+10del
NM_000052.7(ATP7A):c.3812C>T (p.Thr1271Ile) rs932523090
NM_000052.7(ATP7A):c.3871G>A (p.Glu1291Lys) rs999014839
NM_000052.7(ATP7A):c.3894G>T (p.Met1298Ile) rs782499160
NM_000052.7(ATP7A):c.3917C>T (p.Ser1306Phe)
NM_000052.7(ATP7A):c.391C>T (p.Pro131Ser) rs2522289909
NM_000052.7(ATP7A):c.3949G>C (p.Ala1317Pro)
NM_000052.7(ATP7A):c.395C>A (p.Ser132Tyr)
NM_000052.7(ATP7A):c.3969T>A (p.Asp1323Glu) rs369114635
NM_000052.7(ATP7A):c.3970G>A (p.Val1324Ile) rs782692001
NM_000052.7(ATP7A):c.3989A>G (p.Asp1330Gly) rs1345066409
NM_000052.7(ATP7A):c.400G>T (p.Val134Leu) rs371441365
NM_000052.7(ATP7A):c.4025T>C (p.Val1342Ala) rs2149112223
NM_000052.7(ATP7A):c.4046G>C (p.Arg1349Thr) rs2149112238
NM_000052.7(ATP7A):c.4050G>T (p.Lys1350Asn) rs2522421063
NM_000052.7(ATP7A):c.4055T>A (p.Val1352Asp) rs2522421079
NM_000052.7(ATP7A):c.4061G>A (p.Arg1354Lys) rs2078062220
NM_000052.7(ATP7A):c.4062G>C (p.Arg1354Ser) rs1603391261
NM_000052.7(ATP7A):c.4071A>G (p.Ile1357Met)
NM_000052.7(ATP7A):c.40G>T (p.Val14Phe) rs2077547867
NM_000052.7(ATP7A):c.4102G>A (p.Val1368Ile) rs782483019
NM_000052.7(ATP7A):c.410A>G (p.Asn137Ser) rs2149082684
NM_000052.7(ATP7A):c.4124-3T>C rs2522425365
NM_000052.7(ATP7A):c.4141G>A (p.Gly1381Ser) rs2522425454
NM_000052.7(ATP7A):c.4159T>G (p.Trp1387Gly) rs2522425499
NM_000052.7(ATP7A):c.4164G>A (p.Met1388Ile) rs2149113528
NM_000052.7(ATP7A):c.4205T>G (p.Leu1402Arg) rs2522425660
NM_000052.7(ATP7A):c.4210T>G (p.Ser1404Ala) rs2149113564
NM_000052.7(ATP7A):c.4219C>G (p.Leu1407Val) rs1557239007
NM_000052.7(ATP7A):c.4223A>G (p.Lys1408Arg) rs936157944
NM_000052.7(ATP7A):c.4225C>A (p.Leu1409Ile) rs2149113574
NM_000052.7(ATP7A):c.4226+6T>G rs2522425746
NM_000052.7(ATP7A):c.4226T>C (p.Leu1409Pro) rs2522425721
NM_000052.7(ATP7A):c.4227-13T>G
NM_000052.7(ATP7A):c.4232G>A (p.Arg1411Lys) rs2522427210
NM_000052.7(ATP7A):c.4247A>G (p.Glu1416Gly) rs2149113944
NM_000052.7(ATP7A):c.4255G>A (p.Glu1419Lys) rs374043566
NM_000052.7(ATP7A):c.4263del (p.Ala1422fs) rs2522427388
NM_000052.7(ATP7A):c.4267C>G (p.Arg1423Gly) rs149079962
NM_000052.7(ATP7A):c.4270A>G (p.Ser1424Gly) rs2149113979
NM_000052.7(ATP7A):c.4288A>G (p.Ser1430Gly) rs2149113992
NM_000052.7(ATP7A):c.4289G>A (p.Ser1430Asn) rs2522427475
NM_000052.7(ATP7A):c.4300A>C (p.Ile1434Leu) rs2149113995
NM_000052.7(ATP7A):c.4319T>C (p.Ile1440Thr) rs2522427561
NM_000052.7(ATP7A):c.4319T>G (p.Ile1440Arg) rs2522427561
NM_000052.7(ATP7A):c.4330T>A (p.Ser1444Thr) rs2522427606
NM_000052.7(ATP7A):c.4356G>T (p.Leu1452Phe) rs782364202
NM_000052.7(ATP7A):c.4364G>T (p.Arg1455Leu) rs147848649
NM_000052.7(ATP7A):c.4436C>A (p.Thr1479Asn) rs2522427873
NM_000052.7(ATP7A):c.4439G>A (p.Ser1480Asn) rs2522427886
NM_000052.7(ATP7A):c.4445C>G (p.Pro1482Arg) rs1557239147
NM_000052.7(ATP7A):c.4447G>T (p.Asp1483Tyr) rs2149114118
NM_000052.7(ATP7A):c.4465G>A (p.Val1489Met)
NM_000052.7(ATP7A):c.4466T>C (p.Val1489Ala) rs2522427956
NM_000052.7(ATP7A):c.4476C>G (p.Phe1492Leu) rs2149114133
NM_000052.7(ATP7A):c.4480G>A (p.Glu1494Lys) rs2522427989
NM_000052.7(ATP7A):c.4489G>A (p.Asp1497Asn) rs897698502
NM_000052.7(ATP7A):c.4490A>G (p.Asp1497Gly) rs1557239152
NM_000052.7(ATP7A):c.45G>C (p.Glu15Asp) rs2522252226
NM_000052.7(ATP7A):c.467A>T (p.Lys156Met) rs2149082707
NM_000052.7(ATP7A):c.46G>T (p.Gly16Cys) rs2522252235
NM_000052.7(ATP7A):c.484G>T (p.Asp162Tyr) rs2522290285
NM_000052.7(ATP7A):c.490A>T (p.Ser164Cys) rs2522290310
NM_000052.7(ATP7A):c.524T>C (p.Met175Thr)
NM_000052.7(ATP7A):c.556A>G (p.Thr186Ala) rs1557231656
NM_000052.7(ATP7A):c.557C>T (p.Thr186Ile)
NM_000052.7(ATP7A):c.598C>G (p.Gln200Glu) rs797045399
NM_000052.7(ATP7A):c.599A>G (p.Gln200Arg)
NM_000052.7(ATP7A):c.602G>A (p.Arg201Gln) rs897502448
NM_000052.7(ATP7A):c.610+5T>C
NM_000052.7(ATP7A):c.611-5A>G rs1557231730
NM_000052.7(ATP7A):c.617T>G (p.Leu206Arg) rs2149083027
NM_000052.7(ATP7A):c.61T>C (p.Ser21Pro) rs2522252303
NM_000052.7(ATP7A):c.659T>C (p.Ile220Thr) rs2149083046
NM_000052.7(ATP7A):c.65G>A (p.Cys22Tyr) rs2077548143
NM_000052.7(ATP7A):c.674T>A (p.Met225Lys) rs2522292707
NM_000052.7(ATP7A):c.675G>A (p.Met225Ile) rs2522292719
NM_000052.7(ATP7A):c.67G>A (p.Val23Ile) rs2522252336
NM_000052.7(ATP7A):c.690A>C (p.Glu230Asp) rs2522292797
NM_000052.7(ATP7A):c.695T>C (p.Met232Thr) rs2149083058
NM_000052.7(ATP7A):c.702T>G (p.Phe234Leu) rs2077656290
NM_000052.7(ATP7A):c.707C>T (p.Ala236Val)
NM_000052.7(ATP7A):c.717A>C (p.Lys239Asn) rs2522292959
NM_000052.7(ATP7A):c.725C>G (p.Pro242Arg) rs2522293013
NM_000052.7(ATP7A):c.729G>T (p.Lys243Asn) rs782326318
NM_000052.7(ATP7A):c.740T>C (p.Leu247Ser) rs2077656502
NM_000052.7(ATP7A):c.748A>C (p.Ile250Leu) rs1189996419
NM_000052.7(ATP7A):c.751G>A (p.Asp251Asn) rs2077656577
NM_000052.7(ATP7A):c.754G>A (p.Val252Ile) rs2522293129
NM_000052.7(ATP7A):c.778G>A (p.Val260Ile)
NM_000052.7(ATP7A):c.800A>G (p.Gln267Arg) rs2522293279
NM_000052.7(ATP7A):c.807G>T (p.Arg269Ser) rs868946047
NM_000052.7(ATP7A):c.833C>G (p.Thr278Arg) rs2522293391
NM_000052.7(ATP7A):c.833C>T (p.Thr278Ile)
NM_000052.7(ATP7A):c.836C>A (p.Ala279Asp) rs1557231787
NM_000052.7(ATP7A):c.850G>A (p.Asp284Asn)
NM_000052.7(ATP7A):c.854G>A (p.Gly285Asp)
NM_000052.7(ATP7A):c.868T>C (p.Ser290Pro) rs2522293555
NM_000052.7(ATP7A):c.898T>C (p.Ser300Pro) rs2522293729
NM_000052.7(ATP7A):c.899C>G (p.Ser300Cys) rs2077657477
NM_000052.7(ATP7A):c.905T>C (p.Leu302Pro)
NM_000052.7(ATP7A):c.90T>G (p.Ile30Met) rs2149073867
NM_000052.7(ATP7A):c.916A>G (p.Ser306Gly) rs2522293842
NM_000052.7(ATP7A):c.924A>G (p.Ile308Met) rs2522293888
NM_000052.7(ATP7A):c.92G>A (p.Gly31Glu) rs1569549378
NM_000052.7(ATP7A):c.941A>G (p.Asn314Ser) rs1064797375
NM_000052.7(ATP7A):c.945G>T (p.Arg315Ser) rs2149083198
NM_000052.7(ATP7A):c.94A>C (p.Lys32Gln) rs2077548318
NM_000052.7(ATP7A):c.954_955delinsAT (p.Val319Leu) rs2522294013

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