ClinVar Miner

List of variants in gene combination CDH23, PSAP reported by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002778.4(PSAP):c.1350+5G>A rs11000016 0.16762
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) rs2290021 0.08719
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140 0.04021
NM_022124.6(CDH23):c.9978C>T (p.Asn3326=) rs73277900 0.02056
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala) rs140463385 0.00447
NM_022124.6(CDH23):c.9510+13C>T rs183692794 0.00379
NM_022124.6(CDH23):c.9903C>T (p.Pro3301=) rs55717455 0.00341
NM_022124.6(CDH23):c.9501G>A (p.Thr3167=) rs144906721 0.00292
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=) rs377118941 0.00185
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=) rs376804660 0.00053
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr) rs144688588 0.00026
NM_022124.6(CDH23):c.9983G>A (p.Arg3328His) rs148475933 0.00009
NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp) rs562590210 0.00001
NM_022124.6(CDH23):c.9510+19_9510+25del rs149704197

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.