ClinVar Miner

List of variants in gene ATP7A reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
NM_000052.7(ATP7A):c.120+5G>A rs1569549379
NM_000052.7(ATP7A):c.1306G>A (p.Glu436Lys) rs782717793
NM_000052.7(ATP7A):c.1588G>A (p.Val530Ile) rs398123134
NM_000052.7(ATP7A):c.1721C>G (p.Thr574Arg) rs782076879
NM_000052.7(ATP7A):c.1734C>T (p.Cys578=) rs72554638
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln) rs143214563
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=) rs146692150
NM_000052.7(ATP7A):c.2570C>T (p.Pro857Leu) rs886044908
NM_000052.7(ATP7A):c.3071T>A (p.Ile1024Lys) rs797044648
NM_000052.7(ATP7A):c.3970G>A (p.Val1324Ile) rs782692001
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp) rs146651049

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.