ClinVar Miner

List of variants in gene C10orf105, CDH23 studied for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.3301A>G (p.Ile1101Val) rs199510686 0.00027
NM_022124.6(CDH23):c.3331G>A (p.Val1111Ile) rs397517321 0.00006
NM_022124.6(CDH23):c.3695A>G (p.Gln1232Arg) rs776158881 0.00002
NM_022124.6(CDH23):c.3883G>A (p.Gly1295Ser) rs1283599592 0.00001
NM_022124.6(CDH23):c.3983T>C (p.Leu1328Pro) rs370383552 0.00001
NM_001164375.3(C10orf105):c.170C>T (p.Thr57Met)
NM_022124.6(CDH23):c.3241C>T (p.Arg1081Ter) rs866435331
NM_022124.6(CDH23):c.3419G>A (p.Arg1140His)
NM_022124.6(CDH23):c.3597G>T (p.Glu1199Asp)
NM_022124.6(CDH23):c.3633G>T (p.Gln1211His)
NM_022124.6(CDH23):c.3796A>G (p.Ile1266Val)
NM_022124.6(CDH23):c.3916G>C (p.Glu1306Gln) rs1007435841
NM_022124.6(CDH23):c.3950C>T (p.Ser1317Leu)
NM_022124.6(CDH23):c.3979G>T (p.Ala1327Ser)
NM_022124.6(CDH23):c.4018A>G (p.Ile1340Val)
NM_022124.6(CDH23):c.4109T>C (p.Val1370Ala)

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.