ClinVar Miner

List of variants in gene CDH23 reported as likely pathogenic for Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 59
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.6442G>A (p.Asp2148Asn) rs111033271 0.00010
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys) rs756147087 0.00009
NM_022124.6(CDH23):c.5009T>A (p.Val1670Asp) rs397517333 0.00007
NM_022124.6(CDH23):c.6050-15G>A rs373838930 0.00006
NM_022124.6(CDH23):c.5747G>A (p.Arg1916His) rs746971522 0.00004
NM_022124.6(CDH23):c.6085C>T (p.Arg2029Trp) rs750880909 0.00002
NM_022124.6(CDH23):c.8378G>A (p.Arg2793Gln) rs547034667 0.00002
NM_022124.6(CDH23):c.2398-1G>T rs751788879 0.00001
NM_022124.6(CDH23):c.2591G>T (p.Gly864Val) rs1317670560 0.00001
NM_022124.6(CDH23):c.4662C>A (p.Asp1554Glu) rs771353319 0.00001
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser) rs183431253 0.00001
NM_022124.6(CDH23):c.6696del (p.Ala2232_Val2233insTer) rs1278603247 0.00001
NM_022124.6(CDH23):c.7274_7275del (p.Thr2425fs) rs1841497902 0.00001
NM_022124.6(CDH23):c.8920G>T (p.Glu2974Ter) rs1344509500 0.00001
NC_000010.11:g.71682535dup rs753886326
NM_022124.6(CDH23):c.1143_1176del rs764949139
NM_022124.6(CDH23):c.1152C>A (p.Ser384Arg)
NM_022124.6(CDH23):c.1395C>A (p.Tyr465Ter)
NM_022124.6(CDH23):c.145+1G>T rs1850169561
NM_022124.6(CDH23):c.2323del (p.His775fs)
NM_022124.6(CDH23):c.2419del (p.Leu807fs)
NM_022124.6(CDH23):c.2476del (p.Leu826fs)
NM_022124.6(CDH23):c.2587+1G>T
NM_022124.6(CDH23):c.2730C>G (p.Tyr910Ter)
NM_022124.6(CDH23):c.289-1G>C
NM_022124.6(CDH23):c.2954-2A>G
NM_022124.6(CDH23):c.337-2A>G
NM_022124.6(CDH23):c.4594_4597del (p.Gly1532fs)
NM_022124.6(CDH23):c.4762C>T (p.Arg1588Trp) rs137937502
NM_022124.6(CDH23):c.5101G>A (p.Glu1701Lys)
NM_022124.6(CDH23):c.5256dup (p.Glu1753Ter)
NM_022124.6(CDH23):c.5272C>T (p.Gln1758Ter) rs397517337
NM_022124.6(CDH23):c.5300_5303dup (p.His1769fs) rs2132929769
NM_022124.6(CDH23):c.5434G>T (p.Glu1812Ter)
NM_022124.6(CDH23):c.5749G>A (p.Glu1917Lys) rs1060499789
NM_022124.6(CDH23):c.6083A>C (p.Asp2028Ala) rs762226905
NM_022124.6(CDH23):c.6254-12_6258del
NM_022124.6(CDH23):c.6254-2A>C
NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn) rs121908349
NM_022124.6(CDH23):c.6712+1G>A rs1554874900
NM_022124.6(CDH23):c.6831del (p.Lys2278fs) rs1200012430
NM_022124.6(CDH23):c.6973A>T (p.Lys2325Ter)
NM_022124.6(CDH23):c.7033C>T (p.Gln2345Ter)
NM_022124.6(CDH23):c.7225del
NM_022124.6(CDH23):c.7557T>G (p.Tyr2519Ter)
NM_022124.6(CDH23):c.8191C>T (p.Gln2731Ter)
NM_022124.6(CDH23):c.8287_8290del (p.Ile2763fs)
NM_022124.6(CDH23):c.8308+1G>A rs757675676
NM_022124.6(CDH23):c.833-1G>A
NM_022124.6(CDH23):c.8352del (p.Leu2785fs)
NM_022124.6(CDH23):c.918C>G (p.Tyr306Ter)
NM_022124.6(CDH23):c.9198+2T>A rs1841921374
NM_022124.6(CDH23):c.9199-4G>A rs369900526
NM_022124.6(CDH23):c.9207dup (p.Ile3070fs)
NM_022124.6(CDH23):c.9254del (p.Leu3085fs) rs773926246
NM_022124.6(CDH23):c.9280_9286del rs2133002929
NM_022124.6(CDH23):c.9381-2A>G
NM_022124.6(CDH23):c.9511-2A>C
NM_022124.6(CDH23):c.9634-1G>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.