List of variants in gene CLCNKB, LOC106501713 studied for Bartter disease type 4B

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 23

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000085.5(CLCNKB):c.*37A>C	rs10803415	0.90411
NM_000085.5(CLCNKB):c.492G>C (p.Gly164=)	rs2014562	0.88578
NM_000085.5(CLCNKB):c.1685T>C (p.Met562Thr)	rs5253	0.88476
NM_000085.5(CLCNKB):c.860C>T (p.Ala287Val)	rs7367494	0.83379
NM_000085.5(CLCNKB):c.876T>C (p.Cys292=)	rs7368151	0.83375
NM_000085.5(CLCNKB):c.866+35A>T	rs59924562	0.83366
NM_000085.5(CLCNKB):c.867-32G>A	rs7365182	0.83197
NM_000085.5(CLCNKB):c.642A>C (p.Ala214=)	rs1889790	0.82868
NM_000085.5(CLCNKB):c.641C>G (p.Ala214Gly)	rs1889789	0.81589
NM_000085.5(CLCNKB):c.1930-40A>G	rs7517792	0.76722
NM_000085.5(CLCNKB):c.498+83C>G	rs2863440	0.70105
NM_000085.5(CLCNKB):c.577-5C>T	rs1889788	0.69881
NM_000085.5(CLCNKB):c.1732A>G (p.Lys578Glu)	rs2275166	0.69655
NM_000085.5(CLCNKB):c.324A>G (p.Ser108=)	rs5257	0.68719
NM_000085.5(CLCNKB):c.1741C>T (p.Leu581=)	rs2275167	0.64121
NM_000085.5(CLCNKB):c.101-50G>C	rs6604910	0.54303
NM_000085.5(CLCNKB):c.1930-37T>A	rs7512547	0.30011
NM_000085.5(CLCNKB):c.2017-16C>T	rs61769892
NM_000085.5(CLCNKB):c.2017-28G>C	rs12746138
NM_000085.5(CLCNKB):c.230-59G>A	rs2014841
NM_000085.5(CLCNKB):c.359-70A>G	rs945403
NM_000085.5(CLCNKB):c.866+47del	rs34589727
NM_000085.5(CLCNKB):c.968+47T>C	rs7368166

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.