ClinVar Miner

List of variants in gene CDH23 reported as pathogenic by Division of Hearing and Balance Research,National Hospital Organization Tokyo Medical Center

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP
NM_001171932.1(CDH23):c.1036C>T (p.Pro346Ser) rs1060499791
NM_022124.5(CDH23):c.1934A>G (p.Asp645Gly) rs1390562340
NM_022124.5(CDH23):c.2866G>A (p.Glu956Lys) rs756147087
NM_022124.5(CDH23):c.4877A>C (p.Asp1626Ala) rs1554871816
NM_022124.5(CDH23):c.5147A>C (p.Gln1716Pro) rs758382198
NM_022124.5(CDH23):c.6085C>T (p.Arg2029Trp) rs750880909
NM_022124.5(CDH23):c.6667del (p.Leu2223Trpfs) rs1554874879
NM_022124.5(CDH23):c.6712+1G>A rs1554874900
NM_022124.5(CDH23):c.719C>T (p.Pro240Leu) rs121908354
NM_022124.5(CDH23):c.7312G>A (p.Glu2438Lys) rs1264310782
NM_022124.5(CDH23):c.9129del (p.Asn3044Thrfs) rs1554877797

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.