List of variants in gene KLHL3 reported as pathogenic for Pseudohypoaldosteronism type 2A

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 26

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_017415.3(KLHL3):c.1151G>A (p.Arg384Gln)	rs199469629	0.00002
NM_017415.3(KLHL3):c.1280T>C (p.Met427Thr)	rs199469642	0.00001
NM_017415.3(KLHL3):c.1292G>A (p.Arg431Gln)	rs199469643	0.00001
NM_017415.3(KLHL3):c.1670A>G (p.Tyr557Cys)	rs199469645	0.00001
NM_017415.3(KLHL3):c.1723C>T (p.Arg575Trp)	rs199469646	0.00001
NM_017415.3(KLHL3):c.718C>T (p.Arg240Ter)	rs199469638	0.00001
NM_017415.3(KLHL3):c.1007G>T (p.Arg336Ile)	rs199469640
NM_017415.3(KLHL3):c.1019C>T (p.Ala340Val)	rs199469628
NM_017415.3(KLHL3):c.1160T>C (p.Leu387Pro)	rs199469630
NM_017415.3(KLHL3):c.1229C>T (p.Ser410Leu)	rs199469641
NM_017415.3(KLHL3):c.1295G>A (p.Ser432Asn)	rs199469631
NM_017415.3(KLHL3):c.1298G>A (p.Ser433Asn)	rs199469632
NM_017415.3(KLHL3):c.1410G>A (p.Trp470Ter)	rs199469644
NM_017415.3(KLHL3):c.1480G>A (p.Ala494Thr)	rs199469633
NM_017415.3(KLHL3):c.1501C>A (p.Pro501Thr)	rs199469634
NM_017415.3(KLHL3):c.1582C>T (p.Arg528Cys)	rs199469635
NM_017415.3(KLHL3):c.1583G>A (p.Arg528His)	rs199469636
NM_017415.3(KLHL3):c.230C>A (p.Ala77Glu)	rs199469623
NM_017415.3(KLHL3):c.232A>G (p.Met78Val)	rs199469624
NM_017415.3(KLHL3):c.254A>C (p.Glu85Ala)	rs199469625
NM_017415.3(KLHL3):c.430C>T (p.Gln144Ter)	rs199469637
NM_017415.3(KLHL3):c.491G>T (p.Cys164Phe)	rs199469626
NM_017415.3(KLHL3):c.721del (p.Leu241fs)	rs199469647
NM_017415.3(KLHL3):c.753+1G>A	rs199469648
NM_017415.3(KLHL3):c.926A>G (p.Gln309Arg)	rs199469627
NM_017415.3(KLHL3):c.965T>G (p.Phe322Cys)	rs199469639

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.