ClinVar Miner

List of variants in gene ATP7B reported as uncertain significance by CeGaT Praxis fuer Humangenetik Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 49
Download table as spreadsheet
HGVS dbSNP
NC_000013.11:g.52011771C>T rs1593894001
NM_000053.4(ATP7B):c.*16G>A rs193922100
NM_000053.4(ATP7B):c.1066G>A (p.Gly356Ser) rs1593788340
NM_000053.4(ATP7B):c.1122C>G (p.Val374=) rs201254466
NM_000053.4(ATP7B):c.1123C>T (p.His375Tyr) rs774226215
NM_000053.4(ATP7B):c.1185C>T (p.Ala395=) rs764551529
NM_000053.4(ATP7B):c.1278C>T (p.Val426=) rs143556945
NM_000053.4(ATP7B):c.1315C>T (p.His439Tyr) rs1593775498
NM_000053.4(ATP7B):c.1555G>A (p.Val519Met) rs192957846
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376
NM_000053.4(ATP7B):c.1621G>A (p.Glu541Lys) rs187046823
NM_000053.4(ATP7B):c.1922T>C (p.Leu641Ser) rs186924074
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val) rs146303208
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259
NM_000053.4(ATP7B):c.2009A>G (p.Tyr670Cys)
NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=) rs751202110
NM_000053.4(ATP7B):c.226A>G (p.Ile76Val) rs200642204
NM_000053.4(ATP7B):c.2394C>G (p.Leu798=) rs758690020
NM_000053.4(ATP7B):c.2448-4G>T rs1593697433
NM_000053.4(ATP7B):c.2489T>G (p.Ile830Ser) rs1593697228
NM_000053.4(ATP7B):c.2544C>T (p.Gly848=) rs200996053
NM_000053.4(ATP7B):c.2667C>T (p.His889=) rs373539367
NM_000053.4(ATP7B):c.2715G>C (p.Glu905Asp) rs923227127
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782
NM_000053.4(ATP7B):c.314C>T (p.Ser105Leu) rs753236073
NM_000053.4(ATP7B):c.3243+4C>T
NM_000053.4(ATP7B):c.3243+5G>A rs373193482
NM_000053.4(ATP7B):c.3368C>T (p.Pro1123Leu) rs146623472
NM_000053.4(ATP7B):c.3403G>A (p.Ala1135Thr) rs187200982
NM_000053.4(ATP7B):c.3502G>A (p.Ala1168Thr) rs777879359
NM_000053.4(ATP7B):c.3550A>G (p.Ile1184Val) rs1057519121
NM_000053.4(ATP7B):c.3557-3C>T rs1593652724
NM_000053.4(ATP7B):c.3557-6C>T rs140708492
NM_000053.4(ATP7B):c.3557-8C>T rs765668065
NM_000053.4(ATP7B):c.3583G>A (p.Ala1195Thr) rs202218969
NM_000053.4(ATP7B):c.3608C>T (p.Ala1203Val) rs1593652348
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118
NM_000053.4(ATP7B):c.3624G>T (p.Thr1208=) rs377267217
NM_000053.4(ATP7B):c.3671G>T (p.Arg1224Leu) rs532177115
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn) rs199821556
NM_000053.4(ATP7B):c.3999G>A (p.Leu1333=) rs186435141
NM_000053.4(ATP7B):c.406A>T (p.Arg136Trp) rs557577836
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704
NM_000053.4(ATP7B):c.4232G>A (p.Arg1411Gln) rs769672624
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317
NM_000053.4(ATP7B):c.664A>G (p.Ile222Val) rs200866801
NM_000053.4(ATP7B):c.814G>A (p.Val272Ile) rs771501259
NM_000053.4(ATP7B):c.941C>T (p.Ala314Val) rs768949522
NM_000053.4(ATP7B):c.98T>C (p.Met33Thr) rs184868522

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.