ClinVar Miner

List of variants in gene ATP7B reported as uncertain significance for not provided

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Total variants: 179
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HGVS dbSNP gnomAD frequency
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala) rs1801249 0.57256
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys) rs732774 0.56484
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg) rs1061472 0.54674
NM_000053.4(ATP7B):c.3903+6C>T rs2282057 0.53754
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu) rs1801244 0.41941
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243 0.41549
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317 0.00282
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=) rs116587608 0.00227
NM_000053.4(ATP7B):c.628A>G (p.Ile210Val) rs61733680 0.00204
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782 0.00155
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704 0.00151
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=) rs145798966 0.00150
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259 0.00149
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_000053.4(ATP7B):c.2174G>A (p.Arg725Lys) rs115227204 0.00086
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=) rs373081328 0.00078
NM_000053.4(ATP7B):c.1198A>G (p.Thr400Ala) rs199807461 0.00066
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.1993A>G (p.Met665Val) rs146303208 0.00053
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496 0.00048
NM_000053.4(ATP7B):c.2544C>T (p.Gly848=) rs200996053 0.00045
NM_000053.4(ATP7B):c.1555G>A (p.Val519Met) rs192957846 0.00041
NM_000053.4(ATP7B):c.1687G>A (p.Asp563Asn) rs199875471 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.1291T>C (p.Cys431Arg) rs145173864 0.00025
NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser) rs189601972 0.00025
NM_000053.4(ATP7B):c.740A>G (p.Glu247Gly) rs376398239 0.00019
NM_000053.4(ATP7B):c.3422C>G (p.Pro1141Arg) rs757549770 0.00018
NM_000053.4(ATP7B):c.1628C>G (p.Ala543Gly) rs777096464 0.00016
NM_000053.4(ATP7B):c.445G>A (p.Val149Met) rs200606656 0.00016
NM_000053.4(ATP7B):c.3583G>A (p.Ala1195Thr) rs202218969 0.00015
NM_000053.4(ATP7B):c.1621G>A (p.Glu541Lys) rs187046823 0.00014
NM_000053.4(ATP7B):c.226A>G (p.Ile76Val) rs200642204 0.00014
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn) rs199821556 0.00014
NM_000053.4(ATP7B):c.670A>T (p.Ile224Phe) rs200563529 0.00014
NM_000053.4(ATP7B):c.1544-12T>C rs201167060 0.00013
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.3396C>T (p.Ser1132=) rs370947152 0.00011
NM_000053.4(ATP7B):c.3243+5G>A rs373193482 0.00010
NM_000053.4(ATP7B):c.3275C>T (p.Thr1092Met) rs368545738 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.2994C>T (p.Gly998=) rs373102009 0.00009
NM_000053.4(ATP7B):c.610A>G (p.Met204Val) rs200605351 0.00009
NM_001005918.2(ATP7B):c.-116G>A rs965523214 0.00009
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.-676A>G rs1021025464 0.00006
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.2978C>T (p.Thr993Met) rs200290721 0.00006
NM_000053.4(ATP7B):c.352G>A (p.Asp118Asn) rs769655497 0.00006
NM_000053.4(ATP7B):c.3671G>T (p.Arg1224Leu) rs532177115 0.00006
NM_000053.4(ATP7B):c.4022-19C>T rs369736734 0.00006
NM_000053.4(ATP7B):c.496C>T (p.Arg166Trp) rs755476114 0.00006
NM_000053.4(ATP7B):c.589C>T (p.Leu197Phe) rs745909234 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.814G>A (p.Val272Ile) rs771501259 0.00005
NM_000053.4(ATP7B):c.1172C>T (p.Ser391Leu) rs750724856 0.00004
NM_000053.4(ATP7B):c.1840G>T (p.Gly614Cys) rs376565432 0.00004
NM_000053.4(ATP7B):c.3623C>T (p.Thr1208Met) rs370713752 0.00004
NM_000053.4(ATP7B):c.503T>C (p.Leu168Pro) rs756237962 0.00004
NM_000053.4(ATP7B):c.1523G>C (p.Arg508Thr) rs578173224 0.00003
NM_000053.4(ATP7B):c.1554C>T (p.Ser518=) rs551051945 0.00003
NM_000053.4(ATP7B):c.1873A>G (p.Ile625Val) rs778963465 0.00003
NM_000053.4(ATP7B):c.2391_2393del (p.Leu798del) rs772383075 0.00003
NM_000053.4(ATP7B):c.2447+8A>G rs747586752 0.00003
NM_000053.4(ATP7B):c.3106G>A (p.Val1036Ile) rs761147984 0.00003
NM_000053.4(ATP7B):c.3467G>A (p.Arg1156His) rs773917820 0.00003
NM_000053.4(ATP7B):c.3589G>A (p.Ala1197Thr) rs758025913 0.00003
NM_000053.4(ATP7B):c.4232G>A (p.Arg1411Gln) rs769672624 0.00002
NM_000053.4(ATP7B):c.632A>G (p.Lys211Arg) rs1314321927 0.00002
NM_000053.4(ATP7B):c.1187A>G (p.Glu396Gly) rs752745159 0.00001
NM_000053.4(ATP7B):c.1969A>C (p.Ser657Arg) rs372436901 0.00001
NM_000053.4(ATP7B):c.2095T>A (p.Phe699Ile) rs749972036 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.2518C>A (p.Pro840Thr) rs1017756733 0.00001
NM_000053.4(ATP7B):c.2551A>G (p.Met851Val) rs758360345 0.00001
NM_000053.4(ATP7B):c.2715G>C (p.Glu905Asp) rs923227127 0.00001
NM_000053.4(ATP7B):c.2762G>A (p.Ser921Asn) rs1230241288 0.00001
NM_000053.4(ATP7B):c.3061A>G (p.Ile1021Val) rs776490710 0.00001
NM_000053.4(ATP7B):c.3118A>C (p.Met1040Leu) rs1957515922 0.00001
NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val) rs587783309 0.00001
NM_000053.4(ATP7B):c.3221C>T (p.Ala1074Val) rs1206016866 0.00001
NM_000053.4(ATP7B):c.3550A>G (p.Ile1184Val) rs1057519121 0.00001
NM_000053.4(ATP7B):c.3551T>C (p.Ile1184Thr) rs755817220 0.00001
NM_000053.4(ATP7B):c.3557-8C>T rs765668065 0.00001
NM_000053.4(ATP7B):c.3571A>G (p.Met1191Val) rs1566452960 0.00001
NM_000053.4(ATP7B):c.3580A>G (p.Ile1194Val) rs745679410 0.00001
NM_000053.4(ATP7B):c.3700G>T (p.Val1234Phe) rs193922108 0.00001
NM_000053.4(ATP7B):c.3786C>T (p.Val1262=) rs375007352 0.00001
NM_000053.4(ATP7B):c.3877G>A (p.Glu1293Lys) rs776300396 0.00001
NM_000053.4(ATP7B):c.3964C>T (p.Arg1322Cys) rs534984209 0.00001
NM_000053.4(ATP7B):c.4021+3A>G rs565970531 0.00001
NM_000053.4(ATP7B):c.4077G>T (p.Met1359Ile) rs759551693 0.00001
NM_000053.4(ATP7B):c.4361T>C (p.Leu1454Pro) rs377492122 0.00001
NM_000053.4(ATP7B):c.548C>T (p.Ala183Val) rs760140568 0.00001
NM_000053.4(ATP7B):c.811T>C (p.Cys271Arg) rs1349622044 0.00001
NM_000053.4(ATP7B):c.941C>T (p.Ala314Val) rs768949522 0.00001
NM_000053.4(ATP7B):c.994G>A (p.Glu332Lys) rs761084829 0.00001
NM_000053.4(ATP7B):c.999G>T (p.Gly333=) rs371930715 0.00001
NM_000053.4(ATP7B):c.-210A>T
NM_000053.4(ATP7B):c.1036C>T (p.Pro346Ser)
NM_000053.4(ATP7B):c.1216T>A (p.Ser406Thr) rs1801243
NM_000053.4(ATP7B):c.1289G>T (p.Ser430Ile)
NM_000053.4(ATP7B):c.1298C>G (p.Thr433Ser) rs763788226
NM_000053.4(ATP7B):c.1595A>G (p.Tyr532Cys) rs375071383
NM_000053.4(ATP7B):c.1652T>C (p.Phe551Ser) rs773296731
NM_000053.4(ATP7B):c.1654G>C (p.Glu552Gln)
NM_000053.4(ATP7B):c.1676A>G (p.Tyr559Cys) rs1266694873
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.1850A>G (p.Asp617Gly) rs371038011
NM_000053.4(ATP7B):c.1921T>G (p.Leu641Val)
NM_000053.4(ATP7B):c.1946+3A>G
NM_000053.4(ATP7B):c.1953G>C (p.Lys651Asn)
NM_000053.4(ATP7B):c.1979T>A (p.Phe660Tyr)
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs) rs749363958
NM_000053.4(ATP7B):c.2040G>C (p.Gln680His)
NM_000053.4(ATP7B):c.2044A>G (p.Met682Val) rs1555291836
NM_000053.4(ATP7B):c.2062A>T (p.Ile688Phe) rs1958637494
NM_000053.4(ATP7B):c.2394C>G (p.Leu798=) rs758690020
NM_000053.4(ATP7B):c.2448-4G>T rs1593697433
NM_000053.4(ATP7B):c.245A>G (p.Asn82Ser) rs1555296815
NM_000053.4(ATP7B):c.2501T>A (p.Val834Asp)
NM_000053.4(ATP7B):c.262A>G (p.Ser88Gly)
NM_000053.4(ATP7B):c.2662A>T (p.Thr888Ser) rs1455758826
NM_000053.4(ATP7B):c.2672G>C (p.Gly891Ala) rs483352684
NM_000053.4(ATP7B):c.2681C>T (p.Thr894Ile) rs1340729837
NM_000053.4(ATP7B):c.2708T>G (p.Val903Gly) rs1566500467
NM_000053.4(ATP7B):c.2753A>C (p.Asp918Ala)
NM_000053.4(ATP7B):c.2885C>T (p.Ser962Phe) rs760035704
NM_000053.4(ATP7B):c.2924C>T (p.Ser975Phe) rs778163447
NM_000053.4(ATP7B):c.2957C>G (p.Ser986Cys)
NM_000053.4(ATP7B):c.2976C>A (p.Pro992=) rs746358240
NM_000053.4(ATP7B):c.2989G>A (p.Val997Met) rs1566485134
NM_000053.4(ATP7B):c.3017G>A (p.Gly1006Asp) rs1184103234
NM_000053.4(ATP7B):c.3025A>G (p.Ile1009Val) rs2139050369
NM_000053.4(ATP7B):c.3139G>T (p.Asp1047Tyr) rs1441316018
NM_000053.4(ATP7B):c.3187G>A (p.Ala1063Thr) rs2138948476
NM_000053.4(ATP7B):c.3215G>A (p.Gly1072Asp) rs1397311718
NM_000053.4(ATP7B):c.3278A>G (p.Asp1093Gly) rs1022670769
NM_000053.4(ATP7B):c.3280_3281insGTAT (p.Phe1094fs) rs1566469148
NM_000053.4(ATP7B):c.3407A>G (p.Glu1136Gly)
NM_000053.4(ATP7B):c.3452G>A (p.Arg1151His) rs377297166
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly) rs587783315
NM_000053.4(ATP7B):c.3556+3A>G
NM_000053.4(ATP7B):c.3624G>T (p.Thr1208=) rs377267217
NM_000053.4(ATP7B):c.3632G>A (p.Ser1211Asn) rs1157344488
NM_000053.4(ATP7B):c.3671G>A (p.Arg1224Gln)
NM_000053.4(ATP7B):c.367G>T (p.Ala123Ser) rs758769928
NM_000053.4(ATP7B):c.3680C>A (p.Ala1227Asp) rs1566451314
NM_000053.4(ATP7B):c.3700-3T>G rs2138592787
NM_000053.4(ATP7B):c.3741C>A (p.His1247Gln) rs767464491
NM_000053.4(ATP7B):c.38G>A (p.Gly13Glu)
NM_000053.4(ATP7B):c.3901A>G (p.Arg1301Gly)
NM_000053.4(ATP7B):c.3932T>G (p.Ile1311Ser) rs2138563688
NM_000053.4(ATP7B):c.3942_3947delinsAGA (p.Lys1315_Arg1316delinsGlu) rs2138562773
NM_000053.4(ATP7B):c.3965G>A (p.Arg1322His) rs753330854
NM_000053.4(ATP7B):c.3999G>A (p.Leu1333=) rs186435141
NM_000053.4(ATP7B):c.4064G>T (p.Gly1355Val) rs1305262063
NM_000053.4(ATP7B):c.4066T>C (p.Ser1356Pro) rs1555282748
NM_000053.4(ATP7B):c.4090G>C (p.Val1364Leu) rs1566434432
NM_000053.4(ATP7B):c.4124+4A>G rs2138450931
NM_000053.4(ATP7B):c.4127A>C (p.Tyr1376Ser) rs1555282338
NM_000053.4(ATP7B):c.419C>T (p.Ala140Val)
NM_000053.4(ATP7B):c.4282_4285delinsATAA (p.Val1428_Ser1429delinsIleThr) rs2138396076
NM_000053.4(ATP7B):c.51+3G>A rs2140766975
NM_000053.4(ATP7B):c.51+3G>C
NM_000053.4(ATP7B):c.835A>G (p.Ile279Val) rs1952002052
NM_000053.4(ATP7B):c.914G>A (p.Cys305Tyr)

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