ClinVar Miner

List of variants in gene CLCN5, LOC126863258 studied for Dent disease type 1

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.2305G>A (p.Val769Ile) rs201962580 0.00007
NM_001127898.4(CLCN5):c.1816G>A (p.Val606Met) rs782060809 0.00004
NM_001127898.4(CLCN5):c.2342G>C (p.Cys781Ser) rs946613180 0.00002
NM_001127898.4(CLCN5):c.1872G>A (p.Arg624=) rs781948493 0.00001
NM_001127898.4(CLCN5):c.1745G>A (p.Gly582Asp)
NM_001127898.4(CLCN5):c.1747G>A (p.Gly583Arg) rs273585647
NM_001127898.4(CLCN5):c.1756C>T (p.Arg586Trp) rs797044812
NM_001127898.4(CLCN5):c.1768T>C (p.Ser590Pro) rs151340623
NM_001127898.4(CLCN5):c.1768dup (p.Ser590fs) rs1934037265
NM_001127898.4(CLCN5):c.1771_1772del (p.Leu591fs) rs1934037561
NM_001127898.4(CLCN5):c.1789G>T (p.Glu597Ter)
NM_001127898.4(CLCN5):c.1810T>A (p.Tyr604Asn) rs1934039336
NM_001127898.4(CLCN5):c.1847A>G (p.Lys616Arg) rs273585649
NM_001127898.4(CLCN5):c.1849T>G (p.Trp617Gly) rs273585650
NM_001127898.4(CLCN5):c.1851G>T (p.Trp617Cys) rs1934041295
NM_001127898.4(CLCN5):c.1869dup (p.Arg624fs)
NM_001127898.4(CLCN5):c.1938del (p.Phe646fs) rs2147605760
NM_001127898.4(CLCN5):c.1975C>T (p.Arg659Trp)
NM_001127898.4(CLCN5):c.2060dup (p.Tyr687Ter) rs2147606263
NM_001127898.4(CLCN5):c.2061C>A (p.Tyr687Ter)
NM_001127898.4(CLCN5):c.2108G>A (p.Gly703Asp)
NM_001127898.4(CLCN5):c.2119C>T (p.Arg707Ter) rs797044813
NM_001127898.4(CLCN5):c.2129T>G (p.Leu710Arg)
NM_001127898.4(CLCN5):c.2140A>G (p.Ile714Val)
NM_001127898.4(CLCN5):c.2152C>T (p.Arg718Ter) rs151340621
NM_001127898.4(CLCN5):c.2236del (p.Thr746fs) rs1934069016
NM_001127898.4(CLCN5):c.2293C>T (p.Pro765Ser) rs782267039
NM_001127898.4(CLCN5):c.2360+1G>A

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.