ClinVar Miner

List of variants studied for Wilson disease by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 455
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HGVS dbSNP gnomAD frequency
NM_000053.4(ATP7B):c.1707+9T>C rs114449708 0.01274
NM_000053.4(ATP7B):c.1728G>A (p.Ala576=) rs116703544 0.00413
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=) rs61733684 0.00329
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782 0.00151
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704 0.00151
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259 0.00145
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636 0.00094
NM_000053.4(ATP7B):c.3624G>A (p.Thr1208=) rs377267217 0.00076
NM_000053.4(ATP7B):c.1922T>C (p.Leu641Ser) rs186924074 0.00058
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496 0.00049
NM_000053.4(ATP7B):c.1555G>A (p.Val519Met) rs192957846 0.00041
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998 0.00041
NM_000053.4(ATP7B):c.2730G>A (p.Lys910=) rs80145681 0.00034
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.122A>G (p.Asn41Ser) rs201738967 0.00024
NM_000053.4(ATP7B):c.4334C>T (p.Ala1445Val) rs553861183 0.00019
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn) rs199821556 0.00017
NM_000053.4(ATP7B):c.1362A>G (p.Thr454=) rs150018860 0.00016
NM_000053.4(ATP7B):c.1628C>G (p.Ala543Gly) rs777096464 0.00016
NM_000053.4(ATP7B):c.2305A>G (p.Met769Val) rs193922103 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.3583G>A (p.Ala1195Thr) rs202218969 0.00014
NM_000053.4(ATP7B):c.3243+5G>A rs373193482 0.00013
NM_000053.4(ATP7B):c.2475G>A (p.Val825=) rs373528664 0.00012
NM_000053.4(ATP7B):c.347T>C (p.Ile116Thr) rs199773340 0.00012
NM_000053.4(ATP7B):c.1195G>A (p.Ala399Thr) rs370203816 0.00011
NM_000053.4(ATP7B):c.2930C>T (p.Thr977Met) rs72552255 0.00011
NM_000053.4(ATP7B):c.3G>A (p.Met1Ile) rs750530407 0.00011
NM_000053.4(ATP7B):c.1915C>T (p.His639Tyr) rs200728096 0.00010
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.2731-2A>G rs367956522 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.482T>C (p.Ile161Thr) rs531199827 0.00009
NM_000053.4(ATP7B):c.1829C>T (p.Pro610Leu) rs368381292 0.00008
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala) rs587783299 0.00008
NM_000053.4(ATP7B):c.2336G>A (p.Trp779Ter) rs137853283 0.00008
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile) rs541208827 0.00008
NM_000053.4(ATP7B):c.-122G>A rs886050311 0.00007
NM_000053.4(ATP7B):c.1415C>T (p.Pro472Leu) rs771789585 0.00007
NM_000053.4(ATP7B):c.2479C>T (p.Arg827Trp) rs539585071 0.00007
NM_000053.4(ATP7B):c.2806T>G (p.Leu936Val) rs367855110 0.00007
NM_000053.4(ATP7B):c.3211T>C (p.Leu1071=) rs748003525 0.00007
NM_000053.4(ATP7B):c.3332G>A (p.Gly1111Asp) rs182659444 0.00007
NM_000053.4(ATP7B):c.4187C>T (p.Thr1396Met) rs528603867 0.00007
NM_000053.4(ATP7B):c.1036C>T (p.Pro346Ser) rs201200863 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.3671G>T (p.Arg1224Leu) rs532177115 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.664A>G (p.Ile222Val) rs200866801 0.00006
NM_000053.4(ATP7B):c.1285+5G>T rs370579582 0.00005
NM_000053.4(ATP7B):c.1285+8G>A rs377584333 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.2906G>A (p.Arg969Gln) rs121907996 0.00005
NM_000053.4(ATP7B):c.3376C>T (p.His1126Tyr) rs373698024 0.00005
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg) rs121907992 0.00005
NM_000053.4(ATP7B):c.4271A>G (p.Tyr1424Cys) rs372435824 0.00005
NM_000053.4(ATP7B):c.582C>T (p.Pro194=) rs780671732 0.00005
NM_000053.4(ATP7B):c.814G>A (p.Val272Ile) rs771501259 0.00005
NM_000053.4(ATP7B):c.993C>T (p.Ala331=) rs377294197 0.00005
NM_000053.4(ATP7B):c.1158G>T (p.Gly386=) rs778775834 0.00004
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.2833A>G (p.Ile945Val) rs373757123 0.00004
NM_000053.4(ATP7B):c.3451C>T (p.Arg1151Cys) rs755554442 0.00004
NM_000053.4(ATP7B):c.3577G>A (p.Ala1193Thr) rs769531525 0.00004
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser) rs587783318 0.00004
NM_000053.4(ATP7B):c.4070C>T (p.Ala1357Val) rs769949264 0.00004
NM_000053.4(ATP7B):c.503T>C (p.Leu168Pro) rs756237962 0.00004
NM_000053.4(ATP7B):c.512T>C (p.Val171Ala) rs936120525 0.00004
NM_000053.4(ATP7B):c.111T>A (p.Phe37Leu) rs748698125 0.00003
NM_000053.4(ATP7B):c.1171T>C (p.Ser391Pro) rs755785474 0.00003
NM_000053.4(ATP7B):c.1297A>G (p.Thr433Ala) rs532864884 0.00003
NM_000053.4(ATP7B):c.1523G>C (p.Arg508Thr) rs578173224 0.00003
NM_000053.4(ATP7B):c.2046G>C (p.Met682Ile) rs370398602 0.00003
NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=) rs751202110 0.00003
NM_000053.4(ATP7B):c.2298G>A (p.Thr766=) rs759444110 0.00003
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.2391_2393del (p.Leu798del) rs772383075 0.00003
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met) rs750019452 0.00003
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr) rs201497300 0.00003
NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val) rs371840514 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.3182G>A (p.Gly1061Glu) rs764131178 0.00003
NM_000053.4(ATP7B):c.3467G>A (p.Arg1156His) rs773917820 0.00003
NM_000053.4(ATP7B):c.3502G>A (p.Ala1168Thr) rs777879359 0.00003
NM_000053.4(ATP7B):c.3589G>A (p.Ala1197Thr) rs758025913 0.00003
NM_000053.4(ATP7B):c.3645C>T (p.Asp1215=) rs763228636 0.00003
NM_000053.4(ATP7B):c.3670C>T (p.Arg1224Trp) rs746893370 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.3888C>T (p.Asp1296=) rs772616533 0.00003
NM_000053.4(ATP7B):c.665T>C (p.Ile222Thr) rs373476328 0.00003
NM_000053.4(ATP7B):c.946G>A (p.Glu316Lys) rs768818151 0.00003
NM_000053.4(ATP7B):c.1760C>T (p.Thr587Met) rs757716093 0.00002
NM_000053.4(ATP7B):c.1820A>G (p.Lys607Arg) rs775080615 0.00002
NM_000053.4(ATP7B):c.1828C>G (p.Pro610Ala) rs753069338 0.00002
NM_000053.4(ATP7B):c.1830G>A (p.Pro610=) rs375689672 0.00002
NM_000053.4(ATP7B):c.1873A>G (p.Ile625Val) rs778963465 0.00002
NM_000053.4(ATP7B):c.1875T>C (p.Ile625=) rs756958229 0.00002
NM_000053.4(ATP7B):c.2072G>T (p.Gly691Val) rs1555291801 0.00002
NM_000053.4(ATP7B):c.2122-3C>T rs1593726901 0.00002
NM_000053.4(ATP7B):c.227T>C (p.Ile76Thr) rs747911411 0.00002
NM_000053.4(ATP7B):c.2435A>G (p.Asn812Ser) rs746273315 0.00002
NM_000053.4(ATP7B):c.2828G>A (p.Gly943Asp) rs779323689 0.00002
NM_000053.4(ATP7B):c.3139G>T (p.Asp1047Tyr) rs1441316018 0.00002
NM_000053.4(ATP7B):c.3313A>G (p.Lys1105Glu) rs1957395448 0.00002
NM_000053.4(ATP7B):c.3505A>G (p.Met1169Val) rs749085322 0.00002
NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys) rs756029120 0.00002
NM_000053.4(ATP7B):c.3576C>T (p.Ile1192=) rs774584291 0.00002
NM_000053.4(ATP7B):c.3694A>C (p.Thr1232Pro) rs568009639 0.00002
NM_000053.4(ATP7B):c.3749C>G (p.Ala1250Gly) rs372042739 0.00002
NM_000053.4(ATP7B):c.3845T>C (p.Val1282Ala) rs754148852 0.00002
NM_000053.4(ATP7B):c.389C>G (p.Ala130Gly) rs753045361 0.00002
NM_000053.4(ATP7B):c.4035C>T (p.Pro1345=) rs564541246 0.00002
NM_000053.4(ATP7B):c.4045G>C (p.Val1349Leu) rs374924611 0.00002
NM_000053.4(ATP7B):c.4175T>C (p.Met1392Thr) rs199821965 0.00002
NM_000053.4(ATP7B):c.4232G>A (p.Arg1411Gln) rs769672624 0.00002
NM_000053.4(ATP7B):c.550G>A (p.Val184Ile) rs199634511 0.00002
NM_000053.4(ATP7B):c.632A>G (p.Lys211Arg) rs1314321927 0.00002
NM_000053.4(ATP7B):c.676C>T (p.Arg226Trp) rs749626601 0.00002
NM_000053.4(ATP7B):c.1049C>T (p.Pro350Leu) rs201855906 0.00001
NM_000053.4(ATP7B):c.1101C>T (p.Gly367=) rs759359836 0.00001
NM_000053.4(ATP7B):c.1129A>G (p.Ile377Val) rs775754066 0.00001
NM_000053.4(ATP7B):c.113C>A (p.Ala38Asp) rs935963471 0.00001
NM_000053.4(ATP7B):c.1161G>A (p.Val387=) rs748788136 0.00001
NM_000053.4(ATP7B):c.1168A>G (p.Ile390Val) rs770903362 0.00001
NM_000053.4(ATP7B):c.1441T>C (p.Ser481Pro) rs769215829 0.00001
NM_000053.4(ATP7B):c.1461G>A (p.Pro487=) rs372068316 0.00001
NM_000053.4(ATP7B):c.1616C>T (p.Pro539Leu) rs572122562 0.00001
NM_000053.4(ATP7B):c.164C>T (p.Ser55Phe) rs574071838 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.1846C>T (p.Arg616Trp) rs374172791 0.00001
NM_000053.4(ATP7B):c.1847G>A (p.Arg616Gln) rs752850609 0.00001
NM_000053.4(ATP7B):c.1857C>A (p.Ile619=) rs765501756 0.00001
NM_000053.4(ATP7B):c.1862T>C (p.Ile621Thr) rs377670877 0.00001
NM_000053.4(ATP7B):c.1924G>C (p.Asp642His) rs72552285 0.00001
NM_000053.4(ATP7B):c.1946+6T>C rs751287778 0.00001
NM_000053.4(ATP7B):c.2020C>A (p.Pro674Thr) rs1214560420 0.00001
NM_000053.4(ATP7B):c.2044A>G (p.Met682Val) rs1555291836 0.00001
NM_000053.4(ATP7B):c.2060A>T (p.Asn687Ile) rs778768103 0.00001
NM_000053.4(ATP7B):c.2095T>A (p.Phe699Ile) rs749972036 0.00001
NM_000053.4(ATP7B):c.2121+4T>C rs376318728 0.00001
NM_000053.4(ATP7B):c.2122-1G>C rs1319653818 0.00001
NM_000053.4(ATP7B):c.2131G>T (p.Gly711Trp) rs1394999756 0.00001
NM_000053.4(ATP7B):c.2165dup (p.Arg723fs) rs768729972 0.00001
NM_000053.4(ATP7B):c.2215A>G (p.Ile739Val) rs1469592954 0.00001
NM_000053.4(ATP7B):c.2267C>T (p.Ala756Val) rs769927137 0.00001
NM_000053.4(ATP7B):c.2268G>A (p.Ala756=) rs755387536 0.00001
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=) rs372979339 0.00001
NM_000053.4(ATP7B):c.2294A>G (p.Asp765Gly) rs1555291147 0.00001
NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met) rs121907997 0.00001
NM_000053.4(ATP7B):c.2320A>G (p.Ile774Val) rs778579276 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.2400C>T (p.Ala800=) rs760562006 0.00001
NM_000053.4(ATP7B):c.2447+16C>T rs368512324 0.00001
NM_000053.4(ATP7B):c.2490C>T (p.Ile830=) rs759213674 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.2551A>G (p.Met851Val) rs758360345 0.00001
NM_000053.4(ATP7B):c.2606G>A (p.Gly869Glu) rs775553302 0.00001
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val) rs121907994 0.00001
NM_000053.4(ATP7B):c.2679C>T (p.Asp893=) rs755739707 0.00001
NM_000053.4(ATP7B):c.2715G>C (p.Glu905Asp) rs923227127 0.00001
NM_000053.4(ATP7B):c.2756G>A (p.Arg919Gln) rs574579593 0.00001
NM_000053.4(ATP7B):c.2797A>C (p.Thr933Pro) rs1555288410 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.2836G>A (p.Asp946Asn) rs370961504 0.00001
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp) rs774028495 0.00001
NM_000053.4(ATP7B):c.2922G>A (p.Thr974=) rs751802421 0.00001
NM_000053.4(ATP7B):c.2939G>A (p.Cys980Tyr) rs1038582488 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.3008C>T (p.Ala1003Val) rs775055397 0.00001
NM_000053.4(ATP7B):c.3107dup (p.Arg1038fs) rs886043423 0.00001
NM_000053.4(ATP7B):c.3109C>T (p.Pro1037Ser) rs750891085 0.00001
NM_000053.4(ATP7B):c.3170T>C (p.Leu1057Pro) rs373601229 0.00001
NM_000053.4(ATP7B):c.3221C>T (p.Ala1074Val) rs1206016866 0.00001
NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter) rs753250853 0.00001
NM_000053.4(ATP7B):c.3278A>G (p.Asp1093Gly) rs1022670769 0.00001
NM_000053.4(ATP7B):c.3292C>T (p.Pro1098Ser) rs1161694801 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.3317T>A (p.Val1106Asp) rs775541743 0.00001
NM_000053.4(ATP7B):c.3452G>C (p.Arg1151Pro) rs377297166 0.00001
NM_000053.4(ATP7B):c.3490G>A (p.Asp1164Asn) rs867107727 0.00001
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser) rs786204547 0.00001
NM_000053.4(ATP7B):c.3580A>G (p.Ile1194Val) rs745679410 0.00001
NM_000053.4(ATP7B):c.35A>T (p.Glu12Val) rs374944498 0.00001
NM_000053.4(ATP7B):c.3637G>A (p.Gly1213Ser) rs745918596 0.00001
NM_000053.4(ATP7B):c.3695C>T (p.Thr1232Ile) rs1345433491 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.3892G>A (p.Val1298Ile) rs753044473 0.00001
NM_000053.4(ATP7B):c.3959G>C (p.Arg1320Thr) rs548512104 0.00001
NM_000053.4(ATP7B):c.399G>A (p.Trp133Ter) rs1033235740 0.00001
NM_000053.4(ATP7B):c.4021+3A>G rs565970531 0.00001
NM_000053.4(ATP7B):c.4021G>A (p.Gly1341Ser) rs587783317 0.00001
NM_000053.4(ATP7B):c.4022G>A (p.Gly1341Asp) rs779494870 0.00001
NM_000053.4(ATP7B):c.4030A>C (p.Met1344Leu) rs947156425 0.00001
NM_000053.4(ATP7B):c.4038C>T (p.Ile1346=) rs200582826 0.00001
NM_000053.4(ATP7B):c.4051C>T (p.Gln1351Ter) rs786204578 0.00001
NM_000053.4(ATP7B):c.4077G>T (p.Met1359Ile) rs759551693 0.00001
NM_000053.4(ATP7B):c.4088C>G (p.Ser1363Cys) rs776848753 0.00001
NM_000053.4(ATP7B):c.4286C>T (p.Ser1429Leu) rs1956864058 0.00001
NM_000053.4(ATP7B):c.4287G>A (p.Ser1429=) rs747816425 0.00001
NM_000053.4(ATP7B):c.4288C>A (p.Leu1430Met) rs899484304 0.00001
NM_000053.4(ATP7B):c.4306G>A (p.Asp1436Asn) rs148081616 0.00001
NM_000053.4(ATP7B):c.4319G>A (p.Arg1440Gln) rs201483366 0.00001
NM_000053.4(ATP7B):c.4339dup (p.Asp1447fs) rs1345677703 0.00001
NM_000053.4(ATP7B):c.4361T>C (p.Leu1454Pro) rs377492122 0.00001
NM_000053.4(ATP7B):c.459C>T (p.Thr153=) rs1009053966 0.00001
NM_000053.4(ATP7B):c.497G>A (p.Arg166Gln) rs150490315 0.00001
NM_000053.4(ATP7B):c.501A>T (p.Lys167Asn) rs780763517 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.588C>A (p.Asp196Glu) rs756718353 0.00001
NM_000053.4(ATP7B):c.599A>G (p.His200Arg) rs975678311 0.00001
NM_000053.4(ATP7B):c.613G>A (p.Gly205Arg) rs528587507 0.00001
NM_000053.4(ATP7B):c.694C>T (p.Pro232Ser) rs201388026 0.00001
NM_000053.4(ATP7B):c.769G>T (p.Val257Phe) rs373242731 0.00001
NM_000053.4(ATP7B):c.811T>C (p.Cys271Arg) rs1349622044 0.00001
NM_000053.4(ATP7B):c.943A>G (p.Ile315Val) rs745596221 0.00001
NM_000053.4(ATP7B):c.990A>G (p.Gly330=) rs754086671 0.00001
GRCh37/hg19 13q14.3(chr13:52548050-52549324)
NC_000013.11:g.52011725G>A rs913869716
NM_000053.4(ATP7B):c.-36C>T
NM_000053.4(ATP7B):c.1007C>T (p.Thr336Ile)
NM_000053.4(ATP7B):c.1017del (p.Arg339fs) rs2547815959
NM_000053.4(ATP7B):c.1025G>T (p.Ser342Ile)
NM_000053.4(ATP7B):c.103A>T (p.Lys35Ter) rs1057516516
NM_000053.4(ATP7B):c.1145_1151del (p.Ser382fs) rs1176709391
NM_000053.4(ATP7B):c.1157G>A (p.Gly386Glu)
NM_000053.4(ATP7B):c.1162C>G (p.Gln388Glu) rs187209079
NM_000053.4(ATP7B):c.1163A>G (p.Gln388Arg)
NM_000053.4(ATP7B):c.1223T>G (p.Ile408Ser)
NM_000053.4(ATP7B):c.1288A>T (p.Ser430Cys)
NM_000053.4(ATP7B):c.1291T>G (p.Cys431Gly) rs145173864
NM_000053.4(ATP7B):c.1298C>G (p.Thr433Ser) rs763788226
NM_000053.4(ATP7B):c.131A>G (p.Tyr44Cys) rs1209726590
NM_000053.4(ATP7B):c.1374_1377del (p.Val459fs) rs1060499593
NM_000053.4(ATP7B):c.1470C>A (p.Cys490Ter) rs778675259
NM_000053.4(ATP7B):c.148G>A (p.Gly50Ser)
NM_000053.4(ATP7B):c.1500A>G (p.Ala500=)
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.1543+1G>T rs1360279134
NM_000053.4(ATP7B):c.1543+40G>A
NM_000053.4(ATP7B):c.1612C>T (p.Gln538Ter) rs2547778738
NM_000053.4(ATP7B):c.1648_1654del (p.Gly550fs) rs1951680623
NM_000053.4(ATP7B):c.164_166del (p.Ser55_Gln56delinsTer)
NM_000053.4(ATP7B):c.1654G>C (p.Glu552Gln) rs1951680524
NM_000053.4(ATP7B):c.1707+17C>A rs199571857
NM_000053.4(ATP7B):c.1707+1G>A rs377001615
NM_000053.4(ATP7B):c.1707+9T>G
NM_000053.4(ATP7B):c.1708-1G>A rs137853280
NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs) rs753962912
NM_000053.4(ATP7B):c.1802C>T (p.Thr601Ile)
NM_000053.4(ATP7B):c.1850A>G (p.Asp617Gly) rs371038011
NM_000053.4(ATP7B):c.1869+18_1869+20del rs758773114
NM_000053.4(ATP7B):c.186C>T (p.Val62=) rs1187762934
NM_000053.4(ATP7B):c.1924G>T (p.Asp642Tyr) rs72552285
NM_000053.4(ATP7B):c.1949G>A (p.Trp650Ter) rs375542827
NM_000053.4(ATP7B):c.1963del (p.Leu655fs) rs2139612433
NM_000053.4(ATP7B):c.1964T>A (p.Leu655Gln) rs2139612314
NM_000053.4(ATP7B):c.1965G>A (p.Leu655=) rs574041847
NM_000053.4(ATP7B):c.199A>G (p.Met67Val) rs2547825222
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs) rs749363958
NM_000053.4(ATP7B):c.2008T>G (p.Tyr670Asp)
NM_000053.4(ATP7B):c.2011_2012dup (p.Met671fs) rs1555291870
NM_000053.4(ATP7B):c.2071G>C (p.Gly691Arg) rs121908001
NM_000053.4(ATP7B):c.2072G>A (p.Gly691Glu)
NM_000053.4(ATP7B):c.2121+3A>G rs1248002612
NM_000053.4(ATP7B):c.2122-1G>A rs1319653818
NM_000053.4(ATP7B):c.2122-6T>C
NM_000053.4(ATP7B):c.2129G>C (p.Gly710Ala) rs1555291285
NM_000053.4(ATP7B):c.213_214del (p.Val73fs) rs1445951068
NM_000053.4(ATP7B):c.217G>A (p.Val73Met)
NM_000053.4(ATP7B):c.2191G>T (p.Val731Leu) rs762746959
NM_000053.4(ATP7B):c.2199C>G (p.Ile733Met)
NM_000053.4(ATP7B):c.2230T>C (p.Ser744Pro) rs1593726081
NM_000053.4(ATP7B):c.2252C>A (p.Ala751Asp)
NM_000053.4(ATP7B):c.2279C>T (p.Pro760Leu) rs766907687
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.2304dup (p.Met769fs) rs137853287
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.2356-2A>T rs2139505830
NM_000053.4(ATP7B):c.2368_2373delinsTGTCTCTGGCTAAA (p.Glu790fs)
NM_000053.4(ATP7B):c.2392C>G (p.Leu798Val)
NM_000053.4(ATP7B):c.2410dup (p.Thr804fs) rs2547709820
NM_000053.4(ATP7B):c.245A>G (p.Asn82Ser) rs1555296815
NM_000053.4(ATP7B):c.2467dup (p.Glu823fs)
NM_000053.4(ATP7B):c.2480G>A (p.Arg827Gln) rs368589213
NM_000053.4(ATP7B):c.2480G>T (p.Arg827Leu) rs368589213
NM_000053.4(ATP7B):c.2506G>C (p.Gly836Arg)
NM_000053.4(ATP7B):c.2509G>A (p.Gly837Arg)
NM_000053.4(ATP7B):c.2510dup (p.Phe839fs) rs964976261
NM_000053.4(ATP7B):c.2532del (p.Val845fs) rs755709270
NM_000053.4(ATP7B):c.2584A>G (p.Met862Val)
NM_000053.4(ATP7B):c.2621C>A (p.Ala874Glu) rs121907994
NM_000053.4(ATP7B):c.2662A>C (p.Thr888Pro) rs1455758826
NM_000053.4(ATP7B):c.2662A>T (p.Thr888Ser) rs1455758826
NM_000053.4(ATP7B):c.2681C>T (p.Thr894Ile) rs1340729837
NM_000053.4(ATP7B):c.2682del (p.Thr895fs)
NM_000053.4(ATP7B):c.2695A>T (p.Ile899Phe)
NM_000053.4(ATP7B):c.2697_2723del (p.Ile899_Gln907del) rs2139201690
NM_000053.4(ATP7B):c.2705T>C (p.Leu902Pro)
NM_000053.4(ATP7B):c.2720A>G (p.Gln907Arg) rs2547669800
NM_000053.4(ATP7B):c.2732C>T (p.Ala911Val) rs1014184765
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp) rs121907993
NM_000053.4(ATP7B):c.276C>T (p.Ser92=) rs1952032120
NM_000053.4(ATP7B):c.2795C>A (p.Ser932Ter) rs1566498495
NM_000053.4(ATP7B):c.2817G>T (p.Trp939Cys) rs1057517310
NM_000053.4(ATP7B):c.2827G>T (p.Gly943Cys) rs28942076
NM_000053.4(ATP7B):c.2870C>G (p.Pro957Arg)
NM_000053.4(ATP7B):c.291dup (p.Ala98fs) rs1566603492
NM_000053.4(ATP7B):c.2931G>A (p.Thr977=)
NM_000053.4(ATP7B):c.2962G>C (p.Gly988Arg) rs199623434
NM_000053.4(ATP7B):c.2995A>T (p.Thr999Ser) rs1593681041
NM_000053.4(ATP7B):c.2999G>T (p.Gly1000Val) rs1957653671
NM_000053.4(ATP7B):c.3022C>T (p.Leu1008Phe)
NM_000053.4(ATP7B):c.3036del (p.Lys1013fs)
NM_000053.4(ATP7B):c.3041C>T (p.Pro1014Leu) rs2139048200
NM_000053.4(ATP7B):c.3060+2T>C rs2139045834
NM_000053.4(ATP7B):c.3061-12T>G rs1045194246
NM_000053.4(ATP7B):c.3061-2A>G rs1957520924
NM_000053.4(ATP7B):c.3083_3085delinsG (p.Lys1028fs) rs1331370011
NM_000053.4(ATP7B):c.3104G>T (p.Gly1035Val) rs753594031
NM_000053.4(ATP7B):c.3147del (p.Thr1050fs) rs762031690
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.3256_3259dup (p.Thr1087fs)
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.3274A>C (p.Thr1092Pro)
NM_000053.4(ATP7B):c.3282C>A (p.Phe1094Leu) rs1957397703
NM_000053.4(ATP7B):c.3283del (p.Gln1095fs) rs764108297
NM_000053.4(ATP7B):c.3284A>C (p.Gln1095Pro) rs1555285891
NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg) rs786204483
NM_000053.4(ATP7B):c.3335T>G (p.Ile1112Ser) rs746731660
NM_000053.4(ATP7B):c.3361A>G (p.Ser1121Gly)
NM_000053.4(ATP7B):c.3373A>C (p.Ser1125Arg)
NM_000053.4(ATP7B):c.3418_3419delinsTC (p.Val1140Ser)
NM_000053.4(ATP7B):c.3424dup (p.Gln1142fs)
NM_000053.4(ATP7B):c.3431_3433del (p.Phe1144del) rs1555285393
NM_000053.4(ATP7B):c.3445G>A (p.Gly1149Arg) rs1957309469
NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala) rs1566462533
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.3535G>A (p.Ala1179Thr)
NM_000053.4(ATP7B):c.3547G>A (p.Ala1183Thr) rs2138775370
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.355A>C (p.Met119Leu)
NM_000053.4(ATP7B):c.3560_3561del (p.Val1187fs) rs2138673853
NM_000053.4(ATP7B):c.3562C>T (p.Leu1188Phe) rs1432190775
NM_000053.4(ATP7B):c.3563T>C (p.Leu1188Pro)
NM_000053.4(ATP7B):c.3615T>C (p.Ala1205=) rs755324767
NM_000053.4(ATP7B):c.3632G>C (p.Ser1211Thr)
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.3671G>A (p.Arg1224Gln) rs532177115
NM_000053.4(ATP7B):c.3699+1G>T
NM_000053.4(ATP7B):c.3700-1G>A rs1555284021
NM_000053.4(ATP7B):c.372C>G (p.Ser124Arg)
NM_000053.4(ATP7B):c.3741_3742dup (p.Lys1248fs) rs1462451206
NM_000053.4(ATP7B):c.3750del (p.Lys1251fs)
NM_000053.4(ATP7B):c.3774del (p.Lys1260fs)
NM_000053.4(ATP7B):c.3796G>T (p.Gly1266Trp)
NM_000053.4(ATP7B):c.3833C>T (p.Ala1278Val) rs1375884723
NM_000053.4(ATP7B):c.3842G>T (p.Gly1281Val) rs755202606
NM_000053.4(ATP7B):c.3843dup (p.Val1282fs) rs1957043255
NM_000053.4(ATP7B):c.3884C>T (p.Ala1295Val) rs1340942427
NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe) rs749472361
NM_000053.4(ATP7B):c.3904-11C>T rs2547565798
NM_000053.4(ATP7B):c.3904-12C>T
NM_000053.4(ATP7B):c.3904-2A>G rs1057517233
NM_000053.4(ATP7B):c.3928A>G (p.Ser1310Gly) rs1210164486
NM_000053.4(ATP7B):c.3929G>A (p.Ser1310Asn) rs768722570
NM_000053.4(ATP7B):c.3965G>A (p.Arg1322His) rs753330854
NM_000053.4(ATP7B):c.3990_3993del (p.Tyr1331fs) rs1566441447
NM_000053.4(ATP7B):c.4006del (p.Ile1336fs) rs1555283564
NM_000053.4(ATP7B):c.4021+1G>A rs2547563651
NM_000053.4(ATP7B):c.4021+5_4021+8del
NM_000053.4(ATP7B):c.4059G>C (p.Trp1353Cys)
NM_000053.4(ATP7B):c.4066T>C (p.Ser1356Pro) rs1555282748
NM_000053.4(ATP7B):c.406A>G (p.Arg136Gly) rs557577836
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.4112T>C (p.Leu1371Pro) rs1444841250
NM_000053.4(ATP7B):c.4114C>T (p.Gln1372Ter) rs755584106
NM_000053.4(ATP7B):c.411del (p.Leu138fs)
NM_000053.4(ATP7B):c.4125-2A>G rs1555282347
NM_000053.4(ATP7B):c.4125C>G (p.Cys1375Trp)
NM_000053.4(ATP7B):c.4151A>G (p.Tyr1384Cys)
NM_000053.4(ATP7B):c.4180C>A (p.Pro1394Thr)
NM_000053.4(ATP7B):c.4227G>T (p.Arg1409Ser)
NM_000053.4(ATP7B):c.4306_4316del (p.Asp1436fs)
NM_000053.4(ATP7B):c.430G>A (p.Val144Met)
NM_000053.4(ATP7B):c.4396T>C (p.Ter1466Arg) rs1956854198
NM_000053.4(ATP7B):c.447G>A (p.Val149=) rs776619662
NM_000053.4(ATP7B):c.447_452delinsC (p.Glu150fs) rs779669186
NM_000053.4(ATP7B):c.483T>C (p.Ile161=) rs2140100275
NM_000053.4(ATP7B):c.486A>C (p.Glu162Asp) rs1290525428
NM_000053.4(ATP7B):c.494T>C (p.Val165Ala)
NM_000053.4(ATP7B):c.494T>G (p.Val165Gly)
NM_000053.4(ATP7B):c.51+5G>A
NM_000053.4(ATP7B):c.51dup rs1954023351
NM_000053.4(ATP7B):c.52-1G>A rs1057517351
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs) rs558037268
NM_000053.4(ATP7B):c.527T>C (p.Val176Ala)
NM_000053.4(ATP7B):c.528del (p.Ser177fs) rs2140098691
NM_000053.4(ATP7B):c.542_543del (p.Gln181fs)
NM_000053.4(ATP7B):c.555C>G (p.Ile185Met) rs1269310289
NM_000053.4(ATP7B):c.583G>A (p.Glu195Lys)
NM_000053.4(ATP7B):c.62A>T (p.Lys21Met) rs199514391
NM_000053.4(ATP7B):c.652A>C (p.Ser218Arg)
NM_000053.4(ATP7B):c.6del (p.Glu3fs)
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.79C>T (p.Arg27Cys)
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.845del (p.Leu282fs) rs193922111
NM_000053.4(ATP7B):c.889G>T (p.Ala297Ser)
NM_000053.4(ATP7B):c.903T>A (p.Tyr301Ter) rs942967963
NM_000053.4(ATP7B):c.915T>A (p.Cys305Ter) rs398123137
NM_000053.4(ATP7B):c.956del (p.Pro319fs) rs753674382
NM_000053.4(ATP7B):c.994G>T (p.Glu332Ter) rs761084829

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