ClinVar Miner

List of variants in gene CUL3 studied for Pseudohypoaldosteronism type 2A

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003590.5(CUL3):c.1207-12T>G rs199469651
NM_003590.5(CUL3):c.1207-1G>A rs199469654
NM_003590.5(CUL3):c.1207-26A>G rs199469650
NM_003590.5(CUL3):c.1207-28T>G rs199469649
NM_003590.5(CUL3):c.1207-3C>T rs199469653
NM_003590.5(CUL3):c.1207-5T>A rs199469652
NM_003590.5(CUL3):c.1236G>A (p.Leu412=) rs199469655
NM_003590.5(CUL3):c.1238A>G (p.Asp413Gly) rs199469656
NM_003590.5(CUL3):c.1376A>G (p.Lys459Arg) rs199469658
NM_003590.5(CUL3):c.1376_1377+4del rs199469657
NM_003590.5(CUL3):c.1377+1G>C rs199469660
NM_003590.5(CUL3):c.1377+1dup rs199469659
NM_003590.5(CUL3):c.1377+3A>G rs199469661
NM_003590.5(CUL3):c.1377G>A (p.Lys459=) rs886038765

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.