ClinVar Miner

List of variants reported as benign for Pseudohypoaldosteronism type 2D

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_017415.3(KLHL3):c.471A>G (p.Ala157=) rs2905608 0.78307
NM_017415.3(KLHL3):c.526+21T>A rs2301710 0.77798
NM_017415.3(KLHL3):c.*3068A>G rs3813314 0.65518
NM_017415.3(KLHL3):c.*4210A>G rs6863414 0.65359
NM_017415.3(KLHL3):c.*2926T>C rs3813315 0.43732
NM_017415.3(KLHL3):c.*1310C>T rs2057680 0.43675
NM_017415.3(KLHL3):c.904-21C>T rs2074348 0.35553
NM_017415.3(KLHL3):c.*2080A>C rs3813318 0.18814
NM_017415.3(KLHL3):c.1383G>A (p.Glu461=) rs2301708 0.17239
NM_017415.3(KLHL3):c.*1104G>A rs7444370 0.10673
NM_017415.3(KLHL3):c.*3205A>T rs35251512 0.09053
NM_017415.3(KLHL3):c.*2404C>A rs3813316 0.05943
NM_017415.3(KLHL3):c.1611G>T (p.Gly537=) rs17171525 0.03678
NM_017415.3(KLHL3):c.*1451A>G rs149596381 0.00913
NM_017415.3(KLHL3):c.*3698G>A rs60066928 0.00785
NM_017415.3(KLHL3):c.*1896T>G rs75344015 0.00578
NM_017415.3(KLHL3):c.*1106G>T rs141393967 0.00223
NM_017415.3(KLHL3):c.*2267T>A rs140696146 0.00215
NM_017415.3(KLHL3):c.*3128C>G rs147801381 0.00197
NM_017415.3(KLHL3):c.*4065C>T rs142781557 0.00196
NM_017415.3(KLHL3):c.*4421C>T rs185010344 0.00190
NM_017415.3(KLHL3):c.627A>G (p.Ser209=) rs143713380 0.00176
NM_017415.3(KLHL3):c.-256T>A rs182320171 0.00140
NM_017415.3(KLHL3):c.838C>T (p.Leu280=) rs138650966 0.00095
NM_017415.3(KLHL3):c.-375C>T rs142791401 0.00084
NM_017415.3(KLHL3):c.*108G>A rs147305829 0.00076
NM_017415.3(KLHL3):c.1327C>T (p.Leu443=) rs139150347 0.00049
NM_017415.3(KLHL3):c.*790G>A rs572765305 0.00044
NM_017415.3(KLHL3):c.-275G>C rs189053795 0.00035
NM_017415.3(KLHL3):c.756G>A (p.Thr252=) rs143617205 0.00032
NM_017415.3(KLHL3):c.*4006C>T rs150624383 0.00029
NM_017415.3(KLHL3):c.*141C>T rs189064290 0.00019
NM_017415.3(KLHL3):c.*2248C>T rs3813317 0.00019
NM_017415.3(KLHL3):c.904-5C>T rs375172469 0.00019
NM_017415.3(KLHL3):c.1401C>A (p.Thr467=) rs35420153 0.00016
NM_017415.3(KLHL3):c.*2485T>G rs573842978 0.00014
NM_017415.3(KLHL3):c.*2687C>T rs186283051 0.00010
NM_017415.3(KLHL3):c.153C>T (p.Asp51=) rs573882707 0.00004
NM_017415.3(KLHL3):c.*39G>A rs762735618 0.00003
NM_017415.3(KLHL3):c.1021+5G>A rs183499982 0.00002
NM_017415.3(KLHL3):c.526+14G>A rs762458304 0.00002
NM_017415.3(KLHL3):c.*1583C>T rs554048189 0.00001
NM_017415.3(KLHL3):c.*2805A>G rs141261117 0.00001
NM_017415.3(KLHL3):c.1518C>T (p.Ser506=) rs529937913 0.00001
NM_017415.3(KLHL3):c.*3244G>T rs145507791

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.