ClinVar Miner

List of variants reported as likely benign for disorder of copper metabolism by All of Us Research Program, National Institutes of Health

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 248
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000053.4(ATP7B):c.4302G>A (p.Thr1434=) rs116091486 0.01159
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=) rs73202048 0.00732
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg) rs74085882 0.00430
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=) rs61733679 0.00362
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=) rs61733684 0.00329
NM_000053.4(ATP7B):c.3588C>T (p.Asp1196=) rs11840224 0.00305
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850 0.00192
NM_000053.4(ATP7B):c.1278C>T (p.Val426=) rs143556945 0.00135
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=) rs373081328 0.00078
NM_000053.4(ATP7B):c.3624G>A (p.Thr1208=) rs377267217 0.00076
NM_000053.4(ATP7B):c.2544C>T (p.Gly848=) rs200996053 0.00045
NM_000053.4(ATP7B):c.3324C>T (p.Asn1108=) rs372456815 0.00029
NM_000053.4(ATP7B):c.3105C>T (p.Gly1035=) rs200324179 0.00022
NM_000053.4(ATP7B):c.3069T>C (p.Thr1023=) rs187343742 0.00019
NM_000053.4(ATP7B):c.2859C>T (p.Tyr953=) rs762782389 0.00017
NM_000053.4(ATP7B):c.1362A>G (p.Thr454=) rs150018860 0.00016
NM_000053.4(ATP7B):c.2475G>A (p.Val825=) rs373528664 0.00014
NM_000053.4(ATP7B):c.3006C>T (p.Ala1002=) rs369620062 0.00014
NM_000053.4(ATP7B):c.3303A>C (p.Gly1101=) rs1475867908 0.00014
NM_000053.4(ATP7B):c.3261C>A (p.Thr1087=) rs375820067 0.00013
NM_000053.4(ATP7B):c.813C>T (p.Cys271=) rs572147914 0.00013
NM_000053.4(ATP7B):c.3402C>T (p.Pro1134=) rs145887771 0.00012
NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=) rs370947152 0.00011
NM_000053.4(ATP7B):c.3054G>A (p.Ala1018=) rs193922105 0.00010
NM_000053.4(ATP7B):c.2028C>T (p.Asn676=) rs764441090 0.00009
NM_000053.4(ATP7B):c.4395C>A (p.Ile1465=) rs199859839 0.00009
NM_000053.4(ATP7B):c.2805G>A (p.Thr935=) rs141872590 0.00008
NM_000053.4(ATP7B):c.2583C>T (p.Ala861=) rs565717791 0.00007
NM_000053.4(ATP7B):c.3211T>C (p.Leu1071=) rs748003525 0.00007
NM_000053.4(ATP7B):c.3160A>C (p.Arg1054=) rs377586515 0.00006
NM_000053.4(ATP7B):c.325C>T (p.Leu109=) rs751920801 0.00006
NM_000053.4(ATP7B):c.4251A>G (p.Thr1417=) rs546721020 0.00006
NM_000053.4(ATP7B):c.442C>T (p.Arg148Trp) rs373762572 0.00006
NM_000053.4(ATP7B):c.774C>G (p.Thr258=) rs1201589034 0.00006
NM_000053.4(ATP7B):c.2196C>T (p.Leu732=) rs201213995 0.00005
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=) rs398123136 0.00005
NM_000053.4(ATP7B):c.2604C>T (p.Pro868=) rs368902724 0.00005
NM_000053.4(ATP7B):c.549C>T (p.Ala183=) rs772619981 0.00005
NM_000053.4(ATP7B):c.2301C>T (p.Pro767=) rs770787421 0.00004
NM_000053.4(ATP7B):c.2576-5del rs754802731 0.00004
NM_000053.4(ATP7B):c.2763T>C (p.Ser921=) rs1052485948 0.00004
NM_000053.4(ATP7B):c.3489C>T (p.Ser1163=) rs193922106 0.00004
NM_000053.4(ATP7B):c.3885C>T (p.Ala1295=) rs200597654 0.00004
NM_000053.4(ATP7B):c.4215C>T (p.Gly1405=) rs767721448 0.00004
NM_000053.4(ATP7B):c.1686C>T (p.Ser562=) rs138962570 0.00003
NM_000053.4(ATP7B):c.2127C>T (p.Leu709=) rs780843377 0.00003
NM_000053.4(ATP7B):c.2298G>A (p.Thr766=) rs759444110 0.00003
NM_000053.4(ATP7B):c.2484C>T (p.Gly828=) rs570594838 0.00003
NM_000053.4(ATP7B):c.2826C>T (p.Ile942=) rs758712064 0.00003
NM_000053.4(ATP7B):c.2979G>C (p.Thr993=) rs200656411 0.00003
NM_000053.4(ATP7B):c.3189G>A (p.Ala1063=) rs370527611 0.00003
NM_000053.4(ATP7B):c.3557-7G>A rs368128448 0.00003
NM_000053.4(ATP7B):c.3576C>T (p.Ile1192=) rs774584291 0.00003
NM_000053.4(ATP7B):c.3645C>T (p.Asp1215=) rs763228636 0.00003
NM_000053.4(ATP7B):c.3783A>G (p.Lys1261=) rs774940838 0.00003
NM_000053.4(ATP7B):c.3894C>T (p.Val1298=) rs755044286 0.00003
NM_000053.4(ATP7B):c.993C>T (p.Ala331=) rs377294197 0.00003
NM_000053.4(ATP7B):c.1098C>T (p.Ala366=) rs1430922191 0.00002
NM_000053.4(ATP7B):c.1122C>G (p.Val374=) rs201254466 0.00002
NM_000053.4(ATP7B):c.1230A>G (p.Pro410=) rs772843652 0.00002
NM_000053.4(ATP7B):c.1875T>C (p.Ile625=) rs756958229 0.00002
NM_000053.4(ATP7B):c.2199C>T (p.Ile733=) rs575138257 0.00002
NM_000053.4(ATP7B):c.2328G>A (p.Leu776=) rs756580388 0.00002
NM_000053.4(ATP7B):c.2374C>T (p.Leu792=) rs757244072 0.00002
NM_000053.4(ATP7B):c.2979G>A (p.Thr993=) rs200656411 0.00002
NM_000053.4(ATP7B):c.3130C>T (p.Leu1044=) rs1322680211 0.00002
NM_000053.4(ATP7B):c.3471C>T (p.Asn1157=) rs764481833 0.00002
NM_000053.4(ATP7B):c.3501C>T (p.Asp1167=) rs763963568 0.00002
NM_000053.4(ATP7B):c.3582C>T (p.Ile1194=) rs761183334 0.00002
NM_000053.4(ATP7B):c.3852T>C (p.Ile1284=) rs757139219 0.00002
NM_000053.4(ATP7B):c.396C>T (p.Ser132=) rs377081763 0.00002
NM_000053.4(ATP7B):c.4035C>T (p.Pro1345=) rs564541246 0.00002
NM_000053.4(ATP7B):c.1173G>A (p.Ser391=) rs200431213 0.00001
NM_000053.4(ATP7B):c.1185C>T (p.Ala395=) rs764551529 0.00001
NM_000053.4(ATP7B):c.1567T>C (p.Leu523=) rs368662351 0.00001
NM_000053.4(ATP7B):c.1830G>A (p.Pro610=) rs375689672 0.00001
NM_000053.4(ATP7B):c.1857C>A (p.Ile619=) rs765501756 0.00001
NM_000053.4(ATP7B):c.2067T>C (p.Ile689=) rs1274947728 0.00001
NM_000053.4(ATP7B):c.2160A>G (p.Lys720=) rs753016869 0.00001
NM_000053.4(ATP7B):c.2268G>A (p.Ala756=) rs755387536 0.00001
NM_000053.4(ATP7B):c.2322T>C (p.Ile774=) rs755299474 0.00001
NM_000053.4(ATP7B):c.2412C>T (p.Thr804=) rs372306234 0.00001
NM_000053.4(ATP7B):c.2436T>C (p.Asn812=) rs533967323 0.00001
NM_000053.4(ATP7B):c.2490C>T (p.Ile830=) rs759213674 0.00001
NM_000053.4(ATP7B):c.2511A>G (p.Gly837=) rs568128361 0.00001
NM_000053.4(ATP7B):c.2568C>T (p.Leu856=) rs1459783348 0.00001
NM_000053.4(ATP7B):c.2622G>A (p.Ala874=) rs896503662 0.00001
NM_000053.4(ATP7B):c.2625G>A (p.Gly875=) rs1052834834 0.00001
NM_000053.4(ATP7B):c.2667C>T (p.His889=) rs373539367 0.00001
NM_000053.4(ATP7B):c.2712A>G (p.Glu904=) rs146232015 0.00001
NM_000053.4(ATP7B):c.2835C>T (p.Ile945=) rs761169879 0.00001
NM_000053.4(ATP7B):c.2862T>C (p.Phe954=) rs972405411 0.00001
NM_000053.4(ATP7B):c.2922G>A (p.Thr974=) rs751802421 0.00001
NM_000053.4(ATP7B):c.2985C>T (p.Val995=) rs758641148 0.00001
NM_000053.4(ATP7B):c.3042C>T (p.Pro1014=) rs1438628867 0.00001
NM_000053.4(ATP7B):c.3114G>A (p.Arg1038=) rs761888880 0.00001
NM_000053.4(ATP7B):c.3123G>C (p.Arg1041=) rs1192564410 0.00001
NM_000053.4(ATP7B):c.3150A>G (p.Thr1050=) rs771897428 0.00001
NM_000053.4(ATP7B):c.3151C>T (p.Leu1051=) rs534622837 0.00001
NM_000053.4(ATP7B):c.3183G>T (p.Gly1061=) rs994398327 0.00001
NM_000053.4(ATP7B):c.3291G>A (p.Val1097=) rs766632973 0.00001
NM_000053.4(ATP7B):c.3413-8T>C rs1957312964 0.00001
NM_000053.4(ATP7B):c.3498T>C (p.Ser1166=) rs587783314 0.00001
NM_000053.4(ATP7B):c.3504T>A (p.Ala1168=) rs768438514 0.00001
NM_000053.4(ATP7B):c.3516C>T (p.His1172=) rs528866491 0.00001
NM_000053.4(ATP7B):c.363C>T (p.Phe121=) rs370199412 0.00001
NM_000053.4(ATP7B):c.3700-7G>A rs756742483 0.00001
NM_000053.4(ATP7B):c.3738G>A (p.Ser1246=) rs376369653 0.00001
NM_000053.4(ATP7B):c.3786C>T (p.Val1262=) rs375007352 0.00001
NM_000053.4(ATP7B):c.3858C>T (p.Thr1286=) rs558520674 0.00001
NM_000053.4(ATP7B):c.3864G>A (p.Thr1288=) rs764702485 0.00001
NM_000053.4(ATP7B):c.3876C>T (p.Ile1292=) rs978231751 0.00001
NM_000053.4(ATP7B):c.3939T>C (p.Leu1313=) rs896916123 0.00001
NM_000053.4(ATP7B):c.4022-3C>T rs531487054 0.00001
NM_000053.4(ATP7B):c.4110C>T (p.Ser1370=) rs779979628 0.00001
NM_000053.4(ATP7B):c.4188G>A (p.Thr1396=) rs755406059 0.00001
NM_000053.4(ATP7B):c.4296C>T (p.Ser1432=) rs776367340 0.00001
NM_000053.4(ATP7B):c.4305C>T (p.Ser1435=) rs771736533 0.00001
NM_000053.4(ATP7B):c.4308C>T (p.Asp1436=) rs778639218 0.00001
NM_000053.4(ATP7B):c.4326C>T (p.Ser1442=) rs1566428703 0.00001
NM_000053.4(ATP7B):c.4338C>T (p.Asp1446=) rs760661082 0.00001
NM_000053.4(ATP7B):c.459C>T (p.Thr153=) rs1009053966 0.00001
NM_000053.4(ATP7B):c.471T>C (p.Cys157=) rs748497024 0.00001
NM_000053.4(ATP7B):c.609C>T (p.Asp203=) rs781140058 0.00001
NM_000053.4(ATP7B):c.618T>C (p.Phe206=) rs764353593 0.00001
NM_000053.4(ATP7B):c.745T>C (p.Leu249=) rs756002947 0.00001
NM_000053.4(ATP7B):c.747G>A (p.Leu249=) rs554554415 0.00001
NM_000053.4(ATP7B):c.909T>G (p.Pro303=) rs1341159981 0.00001
NM_000053.4(ATP7B):c.999G>T (p.Gly333=) rs371930715 0.00001
NM_000053.4(ATP7B):c.1002T>C (p.Ser334=) rs1951990469
NM_000053.4(ATP7B):c.1044C>G (p.Ser348=) rs1292320157
NM_000053.4(ATP7B):c.1092C>G (p.Ala364=) rs1482077950
NM_000053.4(ATP7B):c.1149A>G (p.Gln383=)
NM_000053.4(ATP7B):c.1164G>A (p.Gln388=) rs2140070526
NM_000053.4(ATP7B):c.1275A>G (p.Ser425=)
NM_000053.4(ATP7B):c.1286-15G>A
NM_000053.4(ATP7B):c.1296T>A (p.Ser432=)
NM_000053.4(ATP7B):c.1356A>G (p.Thr452=)
NM_000053.4(ATP7B):c.1374A>G (p.Glu458=) rs1298098944
NM_000053.4(ATP7B):c.1401T>G (p.Pro467=) rs529527733
NM_000053.4(ATP7B):c.142C>T (p.Leu48=) rs1593792416
NM_000053.4(ATP7B):c.1446C>G (p.Thr482=)
NM_000053.4(ATP7B):c.1544-4C>T
NM_000053.4(ATP7B):c.1602A>G (p.Pro534=) rs2139893951
NM_000053.4(ATP7B):c.1617C>G (p.Pro539=)
NM_000053.4(ATP7B):c.1710C>T (p.Ile570=) rs2139780456
NM_000053.4(ATP7B):c.1725C>T (p.Cys575=)
NM_000053.4(ATP7B):c.1761G>A (p.Thr587=) rs764068870
NM_000053.4(ATP7B):c.1812C>T (p.Ala604=)
NM_000053.4(ATP7B):c.183A>G (p.Thr61=)
NM_000053.4(ATP7B):c.1870-14T>C
NM_000053.4(ATP7B):c.1947-6T>C
NM_000053.4(ATP7B):c.1965G>A (p.Leu655=) rs574041847
NM_000053.4(ATP7B):c.1983C>T (p.Gly661=)
NM_000053.4(ATP7B):c.1989T>C (p.Pro663=)
NM_000053.4(ATP7B):c.2088T>C (p.Asn696=) rs2139604066
NM_000053.4(ATP7B):c.2122-14T>C
NM_000053.4(ATP7B):c.2124C>T (p.Leu708=) rs779988850
NM_000053.4(ATP7B):c.2166G>A (p.Leu722=) rs587783302
NM_000053.4(ATP7B):c.2193G>A (p.Val731=)
NM_000053.4(ATP7B):c.2235G>C (p.Leu745=)
NM_000053.4(ATP7B):c.2286A>T (p.Thr762=) rs750477816
NM_000053.4(ATP7B):c.2295C>T (p.Asp765=)
NM_000053.4(ATP7B):c.2325C>A (p.Ala775=) rs755218710
NM_000053.4(ATP7B):c.2349G>A (p.Leu783=) rs778848412
NM_000053.4(ATP7B):c.2394C>T (p.Leu798=) rs758690020
NM_000053.4(ATP7B):c.2415T>A (p.Val805=) rs768218512
NM_000053.4(ATP7B):c.2445C>T (p.Ile815=)
NM_000053.4(ATP7B):c.2451G>A (p.Glu817=)
NM_000053.4(ATP7B):c.24C>T (p.Ile8=)
NM_000053.4(ATP7B):c.2517T>C (p.Phe839=) rs1192411256
NM_000053.4(ATP7B):c.2532A>G (p.Lys844=)
NM_000053.4(ATP7B):c.2538G>A (p.Leu846=) rs2139224830
NM_000053.4(ATP7B):c.2576-15C>G
NM_000053.4(ATP7B):c.2637A>C (p.Ala879=)
NM_000053.4(ATP7B):c.2691T>C (p.Ala897=)
NM_000053.4(ATP7B):c.2718T>C (p.Ala906=)
NM_000053.4(ATP7B):c.2748G>A (p.Leu916=)
NM_000053.4(ATP7B):c.2766A>T (p.Gly922=)
NM_000053.4(ATP7B):c.2787C>T (p.Ile929=) rs773527867
NM_000053.4(ATP7B):c.2796A>G (p.Ser932=) rs1957875863
NM_000053.4(ATP7B):c.2811G>A (p.Val937=)
NM_000053.4(ATP7B):c.2866-11C>T
NM_000053.4(ATP7B):c.2907G>A (p.Arg969=)
NM_000053.4(ATP7B):c.2907G>C (p.Arg969=)
NM_000053.4(ATP7B):c.2919G>A (p.Gln973=) rs537498754
NM_000053.4(ATP7B):c.2964G>A (p.Gly988=)
NM_000053.4(ATP7B):c.2997C>G (p.Thr999=) rs199581971
NM_000053.4(ATP7B):c.2997C>T (p.Thr999=) rs199581971
NM_000053.4(ATP7B):c.3033A>T (p.Gly1011=)
NM_000053.4(ATP7B):c.3039G>A (p.Lys1013=) rs535112212
NM_000053.4(ATP7B):c.3054G>T (p.Ala1018=)
NM_000053.4(ATP7B):c.3061-4G>T
NM_000053.4(ATP7B):c.3129C>T (p.Leu1043=) rs770672596
NM_000053.4(ATP7B):c.3153G>A (p.Leu1051=) rs1198600591
NM_000053.4(ATP7B):c.315G>A (p.Ser105=)
NM_000053.4(ATP7B):c.3258G>A (p.Glu1086=)
NM_000053.4(ATP7B):c.3261C>G (p.Thr1087=) rs375820067
NM_000053.4(ATP7B):c.3276G>A (p.Thr1092=)
NM_000053.4(ATP7B):c.3327G>A (p.Val1109=) rs1957394302
NM_000053.4(ATP7B):c.3336C>T (p.Ile1112=)
NM_000053.4(ATP7B):c.333G>A (p.Gln111=)
NM_000053.4(ATP7B):c.3378C>T (p.His1126=) rs2138847458
NM_000053.4(ATP7B):c.33A>G (p.Arg11=) rs753613009
NM_000053.4(ATP7B):c.3412+4T>C
NM_000053.4(ATP7B):c.3413-14C>T
NM_000053.4(ATP7B):c.3504T>C (p.Ala1168=)
NM_000053.4(ATP7B):c.360C>T (p.Gly120=) rs1952028232
NM_000053.4(ATP7B):c.3612G>A (p.Leu1204=)
NM_000053.4(ATP7B):c.3615T>C (p.Ala1205=) rs755324767
NM_000053.4(ATP7B):c.3624G>T (p.Thr1208=) rs377267217
NM_000053.4(ATP7B):c.3639T>G (p.Gly1213=)
NM_000053.4(ATP7B):c.3681C>T (p.Ala1227=) rs1292714486
NM_000053.4(ATP7B):c.3696C>A (p.Thr1232=)
NM_000053.4(ATP7B):c.3700-3T>C
NM_000053.4(ATP7B):c.3720T>C (p.Phe1240=)
NM_000053.4(ATP7B):c.3726G>A (p.Glu1242=)
NM_000053.4(ATP7B):c.3738G>C (p.Ser1246=) rs376369653
NM_000053.4(ATP7B):c.3795G>A (p.Val1265=)
NM_000053.4(ATP7B):c.3816C>T (p.Ser1272=) rs2138579304
NM_000053.4(ATP7B):c.3819G>A (p.Pro1273=)
NM_000053.4(ATP7B):c.3828C>G (p.Ala1276=)
NM_000053.4(ATP7B):c.3909T>C (p.Asp1303=)
NM_000053.4(ATP7B):c.3915G>C (p.Leu1305=)
NM_000053.4(ATP7B):c.3954C>T (p.Val1318=)
NM_000053.4(ATP7B):c.3984A>G (p.Ala1328=) rs2138558760
NM_000053.4(ATP7B):c.4022-11T>C
NM_000053.4(ATP7B):c.4125-15G>A
NM_000053.4(ATP7B):c.4125-9G>A rs2138417975
NM_000053.4(ATP7B):c.4164G>A (p.Ala1388=) rs756826065
NM_000053.4(ATP7B):c.4164G>T (p.Ala1388=)
NM_000053.4(ATP7B):c.4185G>A (p.Leu1395=) rs368801566
NM_000053.4(ATP7B):c.4185G>C (p.Leu1395=) rs368801566
NM_000053.4(ATP7B):c.4278C>T (p.Ser1426=) rs1386613610
NM_000053.4(ATP7B):c.4287G>A (p.Ser1429=) rs747816425
NM_000053.4(ATP7B):c.4297C>T (p.Leu1433=) rs1956862933
NM_000053.4(ATP7B):c.4318C>A (p.Arg1440=)
NM_000053.4(ATP7B):c.4371T>C (p.Asn1457=) rs1237211954
NM_000053.4(ATP7B):c.4392C>T (p.Tyr1464=)
NM_000053.4(ATP7B):c.510A>C (p.Gly170=) rs2140099250
NM_000053.4(ATP7B):c.540C>T (p.Asn180=) rs537892210
NM_000053.4(ATP7B):c.546G>A (p.Glu182=)
NM_000053.4(ATP7B):c.660A>G (p.Gly220=)
NM_000053.4(ATP7B):c.69T>G (p.Ser23=)
NM_000053.4(ATP7B):c.771C>G (p.Val257=)
NM_000053.4(ATP7B):c.819G>A (p.Leu273=)
NM_000053.4(ATP7B):c.897A>G (p.Val299=)
NM_000053.4(ATP7B):c.96A>G (p.Ala32=)

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