ClinVar Miner

List of variants in gene ATP7A reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
NM_000052.7(ATP7A):c.1435C>T (p.Gln479Ter) rs1569549695
NM_000052.7(ATP7A):c.1737A>G (p.Val579=) rs189353691
NM_000052.7(ATP7A):c.177A>G (p.Pro59=) rs142463642
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter) rs72554640
NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu) rs2227291
NM_000052.7(ATP7A):c.2782-29C>A rs113968994
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687
NM_000052.7(ATP7A):c.3295-6del rs1557237411
NM_000052.7(ATP7A):c.3902A>G (p.Asp1301Gly) rs1557238588

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.