ClinVar Miner

List of variants in gene CDH23 reported as uncertain significance by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys) rs200649500 0.00136
NM_022124.6(CDH23):c.2128A>G (p.Ile710Val) rs367750869 0.00040
NM_022124.6(CDH23):c.3178C>T (p.Arg1060Trp) rs201536811 0.00035
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys) rs41281336 0.00035
NM_022124.6(CDH23):c.137C>T (p.Thr46Met) rs727504613 0.00010
NM_022124.6(CDH23):c.8533C>T (p.Arg2845Cys) rs727505254 0.00006
NM_022124.6(CDH23):c.6091G>A (p.Ala2031Thr) rs368381520 0.00004
NM_022124.6(CDH23):c.982G>A (p.Ala328Thr) rs374545987 0.00004
NM_022124.6(CDH23):c.325G>A (p.Asp109Asn) rs199793172 0.00003
NM_022124.6(CDH23):c.10022G>A (p.Arg3341His) rs765298747 0.00002
NM_022124.6(CDH23):c.8083G>A (p.Asp2695Asn) rs369501114 0.00002
NM_022124.6(CDH23):c.3092G>C (p.Ser1031Thr) rs397517320 0.00001
NM_022124.6(CDH23):c.6707A>G (p.Asn2236Ser) rs545514111 0.00001
NM_022124.6(CDH23):c.6866A>G (p.Asn2289Ser) rs876657756
NM_022124.6(CDH23):c.9247T>A (p.Phe3083Ile) rs1564807861

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.