ClinVar Miner

List of variants in gene CLCN5 reported as benign for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001127898.4(CLCN5):c.1558-14G>C rs7063765 0.16646
NM_001127898.4(CLCN5):c.603+242A>G rs17174058 0.12074
NM_001127898.4(CLCN5):c.108C>T (p.Thr36=) rs111464924 0.06529
NM_001127898.4(CLCN5):c.164-252C>G rs112064121 0.06167
NM_001127898.4(CLCN5):c.2361-154G>C rs56295848 0.05960
NM_001127898.4(CLCN5):c.1203G>C (p.Leu401=) rs34122840 0.04506
NM_001127898.4(CLCN5):c.*2860T>C rs140913229 0.04145
NM_001127898.4(CLCN5):c.2361-238C>T rs143911721 0.02195
NM_001127898.4(CLCN5):c.416-152A>G rs6651707 0.01704
NM_001127898.4(CLCN5):c.416-6A>T rs6651602 0.01679
NM_001127898.4(CLCN5):c.636G>A (p.Met212Ile) rs34800648 0.00771
NM_001127898.4(CLCN5):c.316-17T>G rs56117808 0.00404
NM_001127898.4(CLCN5):c.1257C>T (p.Thr419=) rs144901347 0.00327
NM_001127898.4(CLCN5):c.1473C>T (p.Gly491=) rs145670120 0.00136
NM_001127898.4(CLCN5):c.2361-18A>G rs372830719 0.00057
NM_001127898.4(CLCN5):c.1422G>A (p.Glu474=) rs199594074 0.00015
NM_001127898.4(CLCN5):c.450T>C (p.His150=) rs781944155 0.00012
NM_001127898.4(CLCN5):c.315+12G>A rs781796383 0.00009
NM_001127898.4(CLCN5):c.727-5T>C rs371608005 0.00009
NM_001127898.4(CLCN5):c.1244G>A (p.Arg415Gln) rs190451218 0.00005
NM_001127898.4(CLCN5):c.942G>A (p.Ser314=) rs782320623 0.00004
NM_001127898.4(CLCN5):c.1557+77A>G rs73492022
NM_001127898.4(CLCN5):c.1662C>T (p.Thr554=)
NM_001127898.4(CLCN5):c.1744+216CT[3] rs113420312
NM_001127898.4(CLCN5):c.316-201dup rs111459936
NM_001127898.4(CLCN5):c.640G>A (p.Val214Ile)
NM_001127898.4(CLCN5):c.819= (p.Ser273=) rs34464675
NM_001127898.4(CLCN5):c.819A>G (p.Ser273=) rs34464675

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.