List of variants in gene combination CDH23, PSAP reported by Breakthrough Genomics, Breakthrough Genomics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_022124.6(CDH23):c.*349A>G	rs1867978	0.77194
NM_002778.4(PSAP):c.1351-14A>G	rs4747203	0.34512
NM_002778.4(PSAP):c.*891G>A	rs7869	0.34207
NM_002778.4(PSAP):c.1350+5G>A	rs11000016	0.16762
NM_022124.6(CDH23):c.*204A>G	rs2290022	0.13799
NM_022124.6(CDH23):c.9319+11G>A	rs11000013	0.10868
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=)	rs2290021	0.08719
NM_022124.6(CDH23):c.*510G>A	rs1054635	0.07812
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

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.