ClinVar Miner

List of variants reported as uncertain significance for Wilson disease by Counsyl

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259 0.00149
NM_000053.4(ATP7B):c.2921C>T (p.Thr974Met) rs201061621 0.00032
NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser) rs189601972 0.00025
NM_000053.4(ATP7B):c.406A>T (p.Arg136Trp) rs557577836 0.00016
NM_000053.4(ATP7B):c.1621G>A (p.Glu541Lys) rs187046823 0.00014
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn) rs199821556 0.00014
NM_000053.4(ATP7B):c.1915C>T (p.His639Tyr) rs200728096 0.00011
NM_000053.4(ATP7B):c.2978C>T (p.Thr993Met) rs200290721 0.00006
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.3556G>C (p.Gly1186Arg) rs786204547 0.00003
NM_000053.4(ATP7B):c.3589G>A (p.Ala1197Thr) rs758025913 0.00003
NM_000053.4(ATP7B):c.2575+5G>C rs551030054 0.00002
NM_000053.4(ATP7B):c.2984T>C (p.Val995Ala) rs777791532 0.00002
NM_000053.4(ATP7B):c.588C>A (p.Asp196Glu) rs756718353 0.00002
NM_000053.4(ATP7B):c.1946+6T>C rs751287778 0.00001
NM_000053.4(ATP7B):c.2131G>T (p.Gly711Trp) rs1394999756 0.00001
NM_000053.4(ATP7B):c.2267C>T (p.Ala756Val) rs769927137 0.00001
NM_000053.4(ATP7B):c.2355+4A>G rs776572343 0.00001
NM_000053.4(ATP7B):c.2797A>C (p.Thr933Pro) rs1555288410 0.00001
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp) rs774028495 0.00001
NM_000053.4(ATP7B):c.2945C>T (p.Ala982Val) rs1487547257 0.00001
NM_000053.4(ATP7B):c.3051G>A (p.Met1017Ile) rs755851188 0.00001
NM_000053.4(ATP7B):c.3208C>T (p.Pro1070Ser) rs1423701688 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.3842G>A (p.Gly1281Asp) rs755202606 0.00001
NM_000053.4(ATP7B):c.3863C>T (p.Thr1288Met) rs373748155 0.00001
NM_000053.4(ATP7B):c.3877G>A (p.Glu1293Lys) rs776300396 0.00001
NM_000053.4(ATP7B):c.3992A>C (p.Tyr1331Ser) rs1131691741 0.00001
NM_000053.4(ATP7B):c.4064G>A (p.Gly1355Asp) rs1305262063 0.00001
NM_000053.3(ATP7B):c.-127_-126GC[2][1] rs1322135702
NM_000053.3(ATP7B):c.-128_-127insGCCGT rs766338038
NM_000053.3(ATP7B):c.-676_-659dup rs1555304816
NM_000053.4(ATP7B):c.-388C>T rs913869716
NM_000053.4(ATP7B):c.1616C>T (p.Pro539Leu) rs572122562
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs) rs749363958
NM_000053.4(ATP7B):c.2002A>G (p.Met668Val) rs587783301
NM_000053.4(ATP7B):c.2057ACA[1] (p.Asn687del) rs770107276
NM_000053.4(ATP7B):c.2078C>G (p.Ser693Cys) rs1212479289
NM_000053.4(ATP7B):c.2094CTT[1] (p.Phe700del) rs1555291787
NM_000053.4(ATP7B):c.2129G>C (p.Gly710Ala) rs1555291285
NM_000053.4(ATP7B):c.2143T>C (p.Tyr715His) rs1555291272
NM_000053.4(ATP7B):c.2152G>C (p.Ala718Pro) rs1555291265
NM_000053.4(ATP7B):c.2251G>T (p.Ala751Ser) rs1555291181
NM_000053.4(ATP7B):c.2279C>T (p.Pro760Leu) rs766907687
NM_000053.4(ATP7B):c.2326C>G (p.Leu776Val) rs1217463955
NM_000053.4(ATP7B):c.2354A>G (p.Lys785Arg) rs1555291085
NM_000053.4(ATP7B):c.2390C>T (p.Ser797Phe) rs1555290883
NM_000053.4(ATP7B):c.2480G>C (p.Arg827Pro) rs368589213
NM_000053.4(ATP7B):c.2480G>T (p.Arg827Leu) rs368589213
NM_000053.4(ATP7B):c.2591T>G (p.Val864Gly) rs1555288669
NM_000053.4(ATP7B):c.2672G>A (p.Gly891Asp) rs483352684
NM_000053.4(ATP7B):c.268_270del (p.Lys90del) rs751970838
NM_000053.4(ATP7B):c.2827G>T (p.Gly943Cys) rs28942076
NM_000053.4(ATP7B):c.2845GTT[1] (p.Val950del) rs1424494639
NM_000053.4(ATP7B):c.2975C>A (p.Pro992His) rs201038679
NM_000053.4(ATP7B):c.2980G>T (p.Ala994Ser) rs1555287372
NM_000053.4(ATP7B):c.3071T>C (p.Val1024Ala) rs1416453532
NM_000053.4(ATP7B):c.3155C>T (p.Pro1052Leu) rs778543794
NM_000053.4(ATP7B):c.3203A>G (p.Glu1068Gly) rs1555286478
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.3431_3433del (p.Phe1144del) rs1555285393
NM_000053.4(ATP7B):c.3451C>G (p.Arg1151Gly) rs755554442
NM_000053.4(ATP7B):c.3502G>T (p.Ala1168Ser) rs777879359
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly) rs587783315
NM_000053.4(ATP7B):c.3638G>T (p.Gly1213Val) rs1555284582
NM_000053.4(ATP7B):c.3644A>G (p.Asp1215Gly) rs1555284575
NM_000053.4(ATP7B):c.3662_3664del (p.Gly1221del) rs886042519
NM_000053.4(ATP7B):c.3733C>G (p.Pro1245Ala) rs587783316
NM_000053.4(ATP7B):c.3767A>G (p.Gln1256Arg) rs1555283946
NM_000053.4(ATP7B):c.3821C>T (p.Ala1274Val) rs1555283882
NM_000053.4(ATP7B):c.3836A>G (p.Asp1279Gly) rs778914828
NM_000053.4(ATP7B):c.3852_3875del (p.Gly1285_Ile1292del) rs1555283826
NM_000053.4(ATP7B):c.3863C>G (p.Thr1288Arg) rs373748155
NM_000053.4(ATP7B):c.3971A>C (p.Asn1324Thr) rs760285767
NM_000053.4(ATP7B):c.4063G>A (p.Gly1355Ser) rs1555282751
NM_000053.4(ATP7B):c.4106C>T (p.Ser1369Leu) rs1555282678
NM_000053.4(ATP7B):c.4118T>C (p.Leu1373Pro) rs780811477
NM_000053.4(ATP7B):c.4124G>C (p.Cys1375Ser) rs1365425480
NM_000053.4(ATP7B):c.4325del (p.Ser1442fs) rs774744497
NM_000053.4(ATP7B):c.432_434del (p.Val145del) rs1555296674
NM_000053.4(ATP7B):c.4336dup (p.Asp1446fs) rs1555282097
NM_000053.4(ATP7B):c.433G>T (p.Val145Phe) rs183365083
NM_000053.4(ATP7B):c.4387C>T (p.Gln1463Ter) rs1392030070
NM_000053.4(ATP7B):c.764_775del (p.His255_Thr258del) rs1417723997
NM_001243182.1(ATP7B):c.-117delinsATCGGC rs1555304632

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