ClinVar Miner

List of variants in gene ATP7B reported as pathogenic by Genetic Services Laboratory, University of Chicago

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP
NM_000053.3(ATP7B):c.1877G>C (p.Gly626Ala) rs587783299
NM_000053.3(ATP7B):c.1934T>G (p.Met645Arg) rs121907998
NM_000053.3(ATP7B):c.1969A>C (p.Ser657Arg) rs372436901
NM_000053.3(ATP7B):c.2122-8T>G rs193922102
NM_000053.3(ATP7B):c.2123T>C (p.Leu708Pro) rs121908000
NM_000053.3(ATP7B):c.2128G>A (p.Gly710Ser) rs137853285
NM_000053.3(ATP7B):c.2165dupT (p.Arg723Glufs) rs768729972
NM_000053.3(ATP7B):c.2305A>G (p.Met769Val) rs193922103
NM_000053.3(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027
NM_000053.3(ATP7B):c.2865+1G>A rs587783306
NM_000053.3(ATP7B):c.2930C>T (p.Thr977Met) rs72552255
NM_000053.3(ATP7B):c.3011A>C (p.Gln1004Pro) rs587783307
NM_000053.3(ATP7B):c.3207C>A (p.His1069Gln) rs76151636
NM_000053.3(ATP7B):c.3796G>A (p.Gly1266Arg) rs121907992
NM_000053.3(ATP7B):c.3809A>G rs121907990
NM_000053.3(ATP7B):c.3955C>T (p.Arg1319Ter) rs193922109
NM_000053.3(ATP7B):c.4021G>A (p.Gly1341Ser) rs587783317
NM_000053.3(ATP7B):c.4092_4093delGT (p.Ser1365Cysfs) rs771603301

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.