ClinVar Miner

List of variants reported as pathogenic for Wilson disease by Baylor Genetics

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ClinVar version:
Total variants: 182
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HGVS dbSNP gnomAD frequency
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636 0.00100
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998 0.00041
NM_000053.4(ATP7B):c.2305A>G (p.Met769Val) rs193922103 0.00015
NM_000053.4(ATP7B):c.2755C>G (p.Arg919Gly) rs121907993 0.00013
NM_000053.4(ATP7B):c.2930C>T (p.Thr977Met) rs72552255 0.00011
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu) rs28942074 0.00010
NM_000053.4(ATP7B):c.2336G>A (p.Trp779Ter) rs137853283 0.00009
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.1877G>C (p.Gly626Ala) rs587783299 0.00006
NM_000053.4(ATP7B):c.2906G>A (p.Arg969Gln) rs121907996 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.1285+5G>T rs370579582 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.3182G>A (p.Gly1061Glu) rs764131178 0.00005
NM_000053.4(ATP7B):c.3443T>C (p.Ile1148Thr) rs60431989 0.00004
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.2668G>A (p.Val890Met) rs786204718 0.00003
NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp) rs746485916 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.865C>T (p.Gln289Ter) rs121907999 0.00003
NM_000053.4(ATP7B):c.2072G>T (p.Gly691Val) rs1555291801 0.00002
NM_000053.4(ATP7B):c.2828G>A (p.Gly943Asp) rs779323689 0.00002
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr) rs201497300 0.00002
NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys) rs756029120 0.00002
NM_000053.4(ATP7B):c.1285+2T>A rs759749626 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.1847G>A (p.Arg616Gln) rs752850609 0.00001
NM_000053.4(ATP7B):c.1946+6T>C rs751287778 0.00001
NM_000053.4(ATP7B):c.2108G>A (p.Cys703Tyr) rs767218895 0.00001
NM_000053.4(ATP7B):c.2122-8T>G rs193922102 0.00001
NM_000053.4(ATP7B):c.2131G>T (p.Gly711Trp) rs1394999756 0.00001
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=) rs372979339 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.2383C>T (p.Leu795Phe) rs751710854 0.00001
NM_000053.4(ATP7B):c.2519C>T (p.Pro840Leu) rs768671894 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.2807T>A (p.Leu936Ter) rs776002066 0.00001
NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser) rs28942076 0.00001
NM_000053.4(ATP7B):c.2865+1G>A rs587783306 0.00001
NM_000053.4(ATP7B):c.2924C>A (p.Ser975Tyr) rs778163447 0.00001
NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu) rs201038679 0.00001
NM_000053.4(ATP7B):c.3107dup (p.Arg1038fs) rs886043423 0.00001
NM_000053.4(ATP7B):c.3140A>T (p.Asp1047Val) rs1395504465 0.00001
NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val) rs587783309 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.3556+1G>A rs184388696 0.00001
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser) rs786204547 0.00001
NM_000053.4(ATP7B):c.3784G>T (p.Val1262Phe) rs769484789 0.00001
NM_000053.4(ATP7B):c.3914T>C (p.Leu1305Pro) rs377144951 0.00001
NM_000053.4(ATP7B):c.399G>A (p.Trp133Ter) rs1033235740 0.00001
NM_000053.4(ATP7B):c.4022G>A (p.Gly1341Asp) rs779494870 0.00001
NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter) rs193922110 0.00001
NM_000053.4(ATP7B):c.562C>T (p.Gln188Ter) rs1412593296 0.00001
NM_000053.4(ATP7B):c.-436_-422del rs1484840087
NM_000053.4(ATP7B):c.111dup (p.Ala38fs) rs1555296939
NM_000053.4(ATP7B):c.1145_1151del (p.Ser382fs) rs1176709391
NM_000053.4(ATP7B):c.1186G>T (p.Glu396Ter) rs763051801
NM_000053.4(ATP7B):c.1211dup (p.Asn404fs)
NM_000053.4(ATP7B):c.1286-2A>G rs2139975409
NM_000053.4(ATP7B):c.1340_1343del (p.Gln447fs) rs1057517444
NM_000053.4(ATP7B):c.1436del (p.Pro479fs)
NM_000053.4(ATP7B):c.1512dup (p.Asn505Ter) rs1057516418
NM_000053.4(ATP7B):c.1517_1518del (p.Ile506fs)
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>C rs1360279134
NM_000053.4(ATP7B):c.1543+1G>T rs1360279134
NM_000053.4(ATP7B):c.1544-2A>G
NM_000053.4(ATP7B):c.1707+5G>A
NM_000053.4(ATP7B):c.1716del (p.Gly572_Met573insTer) rs1057516893
NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs) rs753962912
NM_000053.4(ATP7B):c.1803del (p.Ser602fs)
NM_000053.4(ATP7B):c.1870_1871del (p.Glu624fs) rs2139669739
NM_000053.4(ATP7B):c.1883_1884del (p.His628fs)
NM_000053.4(ATP7B):c.1924G>C (p.Asp642His) rs72552285
NM_000053.4(ATP7B):c.1949G>A (p.Trp650Ter)
NM_000053.4(ATP7B):c.2009_2012dup (p.Met671fs) rs1555291870
NM_000053.4(ATP7B):c.2009_2015del (p.Ile669_Tyr670insTer) rs779904655
NM_000053.4(ATP7B):c.2071G>A (p.Gly691Arg) rs121908001
NM_000053.4(ATP7B):c.2121+1G>T
NM_000053.4(ATP7B):c.2121+3A>G rs1248002612
NM_000053.4(ATP7B):c.213_214del (p.Val73fs) rs1445951068
NM_000053.4(ATP7B):c.2149C>T (p.Gln717Ter) rs1085307057
NM_000053.4(ATP7B):c.2165dup (p.Arg723fs) rs768729972
NM_000053.4(ATP7B):c.2294A>G (p.Asp765Gly) rs1555291147
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.2332C>G (p.Arg778Gly) rs137853284
NM_000053.4(ATP7B):c.2333G>A (p.Arg778Gln) rs28942074
NM_000053.4(ATP7B):c.2356-2A>G rs2139505830
NM_000053.4(ATP7B):c.2366C>G (p.Ser789Ter)
NM_000053.4(ATP7B):c.2407G>A (p.Ala803Thr)
NM_000053.4(ATP7B):c.2415del (p.Val805_Val806insTer)
NM_000053.4(ATP7B):c.2448-1G>A
NM_000053.4(ATP7B):c.2497dup (p.Val833fs)
NM_000053.4(ATP7B):c.2513del (p.Lys838fs) rs777362050
NM_000053.4(ATP7B):c.2532del (p.Val845fs) rs755709270
NM_000053.4(ATP7B):c.2605G>T (p.Gly869Ter) rs191312027
NM_000053.4(ATP7B):c.2648_2649del (p.Val883fs)
NM_000053.4(ATP7B):c.2659del (p.Ala887fs)
NM_000053.4(ATP7B):c.2662A>C (p.Thr888Pro) rs1455758826
NM_000053.4(ATP7B):c.2692C>T (p.Gln898Ter) rs1957898187
NM_000053.4(ATP7B):c.2730+1G>A rs1057516425
NM_000053.4(ATP7B):c.2784CAT[2] (p.Ile930del) rs1228359983
NM_000053.4(ATP7B):c.2795C>A (p.Ser932Ter) rs1566498495
NM_000053.4(ATP7B):c.2810del (p.Val937fs) rs1057516643
NM_000053.4(ATP7B):c.2817G>T (p.Trp939Cys) rs1057517310
NM_000053.4(ATP7B):c.2871del (p.Asn958fs) rs1957668488
NM_000053.4(ATP7B):c.2939G>A (p.Cys980Tyr) rs1038582488
NM_000053.4(ATP7B):c.2997dup (p.Gly1000fs) rs1957654399
NM_000053.4(ATP7B):c.2998G>C (p.Gly1000Arg) rs751078884
NM_000053.4(ATP7B):c.3010C>T (p.Gln1004Ter)
NM_000053.4(ATP7B):c.3029A>C (p.Lys1010Thr) rs747584649
NM_000053.4(ATP7B):c.3061-12T>A rs1045194246
NM_000053.4(ATP7B):c.3061-1G>A rs780955130
NM_000053.4(ATP7B):c.3061-2A>G rs1957520924
NM_000053.4(ATP7B):c.3062T>A (p.Ile1021Lys) rs949421614
NM_000053.4(ATP7B):c.3079G>C (p.Asp1027His) rs1593672840
NM_000053.4(ATP7B):c.3083_3085delinsG (p.Lys1028fs) rs1331370011
NM_000053.4(ATP7B):c.3086C>T (p.Thr1029Ile) rs1555286628
NM_000053.4(ATP7B):c.3088G>A (p.Gly1030Ser) rs1957518268
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.3157dup (p.Leu1053fs) rs1555286522
NM_000053.4(ATP7B):c.3220G>A (p.Ala1074Thr)
NM_000053.4(ATP7B):c.3244-2A>G rs786204584
NM_000053.4(ATP7B):c.3247C>T (p.Leu1083Phe) rs1286080173
NM_000053.4(ATP7B):c.3283del (p.Gln1095fs)
NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg) rs786204483
NM_000053.4(ATP7B):c.3402del (p.Ala1135fs) rs137853281
NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala) rs1566462533
NM_000053.4(ATP7B):c.3472_3482del (p.Gly1158fs) rs1566461818
NM_000053.4(ATP7B):c.3532A>G (p.Thr1178Ala) rs1387431334
NM_000053.4(ATP7B):c.3552dup (p.Asp1185Ter) rs748924063
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.3700del rs1957054299
NM_000053.4(ATP7B):c.3741_3742dup (p.Lys1248fs) rs1462451206
NM_000053.4(ATP7B):c.3766_3767dup (p.Gln1256fs) rs1957048711
NM_000053.4(ATP7B):c.3800A>C (p.Asp1267Ala) rs1555283916
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.3904-2A>G rs1057517233
NM_000053.4(ATP7B):c.3960G>C (p.Arg1320Ser) rs778732681
NM_000053.4(ATP7B):c.3971A>G (p.Asn1324Ser) rs760285767
NM_000053.4(ATP7B):c.3990_3993del (p.Tyr1331fs) rs1566441447
NM_000053.4(ATP7B):c.4021G>A (p.Gly1341Ser) rs587783317
NM_000053.4(ATP7B):c.4022G>T (p.Gly1341Val) rs779494870
NM_000053.4(ATP7B):c.4051C>T (p.Gln1351Ter) rs786204578
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.51+2T>G
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs) rs558037268
NM_000053.4(ATP7B):c.525dup (p.Val176fs) rs558037268
NM_000053.4(ATP7B):c.571_575del (p.Leu191fs)
NM_000053.4(ATP7B):c.678del (p.Leu227fs)
NM_000053.4(ATP7B):c.778dup (p.Gln260fs) rs786204570
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter) rs572147914
NM_000053.4(ATP7B):c.845del (p.Leu282fs) rs193922111
NM_000053.4(ATP7B):c.915T>A (p.Cys305Ter) rs398123137
NM_000053.4(ATP7B):c.994G>T (p.Glu332Ter) rs761084829

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