ClinVar Miner

List of variants in gene ATP7B reported as uncertain significance by Counsyl

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 90
Download table as spreadsheet
HGVS dbSNP
NM_000053.3(ATP7B):c.-118_-116delATGinsAATCGGCG rs1555304632
NM_000053.3(ATP7B):c.-124_-123ins5 rs766338038
NM_000053.3(ATP7B):c.-126_-125ins5 rs1322135702
NM_000053.3(ATP7B):c.-388C>T rs913869716
NM_000053.3(ATP7B):c.-676_-659dup rs1555304816
NM_000053.3(ATP7B):c.1616C>T (p.Pro539Leu) rs572122562
NM_000053.3(ATP7B):c.1621G>A (p.Glu541Lys) rs187046823
NM_000053.3(ATP7B):c.1915C>T (p.His639Tyr) rs200728096
NM_000053.3(ATP7B):c.1922T>C (p.Leu641Ser) rs186924074
NM_000053.3(ATP7B):c.1946+6T>C rs751287778
NM_000053.3(ATP7B):c.1995G>A (p.Met665Ile) rs72552259
NM_000053.3(ATP7B):c.19_20delCA (p.Gln7Aspfs) rs749363958
NM_000053.3(ATP7B):c.2002A>G (p.Met668Val) rs587783301
NM_000053.3(ATP7B):c.2060_2062delACA (p.Asn687del) rs770107276
NM_000053.3(ATP7B):c.2069C>T (p.Pro690Leu) rs1555291809
NM_000053.3(ATP7B):c.2078C>G (p.Ser693Cys) rs1212479289
NM_000053.3(ATP7B):c.2097_2099delCTT (p.Phe700del) rs1555291787
NM_000053.3(ATP7B):c.2129G>C (p.Gly710Ala) rs1555291285
NM_000053.3(ATP7B):c.2131G>T (p.Gly711Trp) rs1394999756
NM_000053.3(ATP7B):c.2143T>C (p.Tyr715His) rs1555291272
NM_000053.3(ATP7B):c.2152G>C (p.Ala718Pro) rs1555291265
NM_000053.3(ATP7B):c.2251G>T (p.Ala751Ser) rs1555291181
NM_000053.3(ATP7B):c.2267C>T (p.Ala756Val) rs769927137
NM_000053.3(ATP7B):c.2279C>T (p.Pro760Leu) rs766907687
NM_000053.3(ATP7B):c.2326C>G (p.Leu776Val) rs1217463955
NM_000053.3(ATP7B):c.2354A>G (p.Lys785Arg) rs1555291085
NM_000053.3(ATP7B):c.2355+4A>G rs776572343
NM_000053.3(ATP7B):c.2390C>T (p.Ser797Phe) rs1555290883
NM_000053.3(ATP7B):c.2480G>C (p.Arg827Pro) rs368589213
NM_000053.3(ATP7B):c.2480G>T (p.Arg827Leu) rs368589213
NM_000053.3(ATP7B):c.2575+5G>C rs551030054
NM_000053.3(ATP7B):c.2591T>G (p.Val864Gly) rs1555288669
NM_000053.3(ATP7B):c.2672G>A (p.Gly891Asp) rs483352684
NM_000053.3(ATP7B):c.268_270delAAG (p.Lys90del) rs751970838
NM_000053.3(ATP7B):c.2797A>C (p.Thr933Pro) rs1555288410
NM_000053.3(ATP7B):c.2827G>A (p.Gly943Ser) rs28942076
NM_000053.3(ATP7B):c.2827G>T (p.Gly943Cys) rs28942076
NM_000053.3(ATP7B):c.2848_2850delGTT (p.Val950del) rs1424494639
NM_000053.3(ATP7B):c.2921C>T (p.Thr974Met) rs201061621
NM_000053.3(ATP7B):c.2945C>T (p.Ala982Val) rs1487547257
NM_000053.3(ATP7B):c.2975C>A (p.Pro992His) rs201038679
NM_000053.3(ATP7B):c.2978C>T (p.Thr993Met) rs200290721
NM_000053.3(ATP7B):c.2980G>T (p.Ala994Ser) rs1555287372
NM_000053.3(ATP7B):c.2984T>C (p.Val995Ala) rs777791532
NM_000053.3(ATP7B):c.3051G>A (p.Met1017Ile) rs755851188
NM_000053.3(ATP7B):c.3071T>C (p.Val1024Ala) rs1416453532
NM_000053.3(ATP7B):c.3106G>A (p.Val1036Ile) rs761147984
NM_000053.3(ATP7B):c.3155C>T (p.Pro1052Leu) rs778543794
NM_000053.3(ATP7B):c.3203A>G (p.Glu1068Gly) rs1555286478
NM_000053.3(ATP7B):c.3208C>T (p.Pro1070Ser) rs1423701688
NM_000053.3(ATP7B):c.3266G>A (p.Gly1089Glu) rs1555285911
NM_000053.3(ATP7B):c.3272G>A (p.Cys1091Tyr) rs778825095
NM_000053.3(ATP7B):c.3431_3433delTCT (p.Phe1144del) rs1555285393
NM_000053.3(ATP7B):c.3451C>G (p.Arg1151Gly) rs755554442
NM_000053.3(ATP7B):c.3467G>A (p.Arg1156His) rs773917820
NM_000053.3(ATP7B):c.3502G>T (p.Ala1168Ser) rs777879359
NM_000053.3(ATP7B):c.3548C>G (p.Ala1183Gly) rs587783315
NM_000053.3(ATP7B):c.3556G>C (p.Gly1186Arg) rs786204547
NM_000053.3(ATP7B):c.3589G>A (p.Ala1197Thr) rs758025913
NM_000053.3(ATP7B):c.3638G>T (p.Gly1213Val) rs1555284582
NM_000053.3(ATP7B):c.3644A>G (p.Asp1215Gly) rs1555284575
NM_000053.3(ATP7B):c.3662_3664delGGG (p.Gly1221del) rs886042519
NM_000053.3(ATP7B):c.3716T>G (p.Val1239Gly) rs374628199
NM_000053.3(ATP7B):c.3733C>G (p.Pro1245Ala) rs587783316
NM_000053.3(ATP7B):c.3741C>G (p.His1247Gln) rs767464491
NM_000053.3(ATP7B):c.3767A>G (p.Gln1256Arg) rs1555283946
NM_000053.3(ATP7B):c.3821C>T (p.Ala1274Val) rs1555283882
NM_000053.3(ATP7B):c.3836A>G (p.Asp1279Gly) rs778914828
NM_000053.3(ATP7B):c.3842G>A (p.Gly1281Asp) rs755202606
NM_000053.3(ATP7B):c.3852_3875del24 (p.Gly1285_Ile1292del) rs1555283826
NM_000053.3(ATP7B):c.3863C>G (p.Thr1288Arg) rs373748155
NM_000053.3(ATP7B):c.3863C>T (p.Thr1288Met) rs373748155
NM_000053.3(ATP7B):c.3877G>A (p.Glu1293Lys) rs776300396
NM_000053.3(ATP7B):c.3886G>A (p.Asp1296Asn) rs199821556
NM_000053.3(ATP7B):c.3971A>C (p.Asn1324Thr) rs760285767
NM_000053.3(ATP7B):c.4063G>A (p.Gly1355Ser) rs1555282751
NM_000053.3(ATP7B):c.4064G>A (p.Gly1355Asp) rs1305262063
NM_000053.3(ATP7B):c.406A>T (p.Arg136Trp) rs557577836
NM_000053.3(ATP7B):c.4106C>T (p.Ser1369Leu) rs1555282678
NM_000053.3(ATP7B):c.4118T>C (p.Leu1373Pro) rs780811477
NM_000053.3(ATP7B):c.4124G>C (p.Cys1375Ser) rs1365425480
NM_000053.3(ATP7B):c.4213G>A (p.Gly1405Ser) rs189601972
NM_000053.3(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317
NM_000053.3(ATP7B):c.4325delG (p.Ser1442Thrfs) rs774744497
NM_000053.3(ATP7B):c.432_434delGGT (p.Val145del) rs1555296674
NM_000053.3(ATP7B):c.4336dup (p.Asp1446Glyfs) rs1555282097
NM_000053.3(ATP7B):c.433G>T (p.Val145Phe) rs183365083
NM_000053.3(ATP7B):c.4387C>T (p.Gln1463Ter) rs1392030070
NM_000053.3(ATP7B):c.588C>A (p.Asp196Glu) rs756718353
NM_000053.3(ATP7B):c.764_775del12 (p.His255_Thr258del) rs1417723997

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.