List of variants in gene combination CDH23, PSAP reported as uncertain significance for Hearing loss, autosomal recessive

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_022124.6(CDH23):c.*361C>A	rs115033851	0.00420
NM_022124.6(CDH23):c.*515C>A	rs16929375	0.00385
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=)	rs377118941	0.00185
NM_022124.6(CDH23):c.*68G>C	rs527311705	0.00182
NM_022124.6(CDH23):c.*434G>A	rs529522213	0.00133
NM_022124.6(CDH23):c.*430A>T	rs562268606	0.00131
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=)	rs376804660	0.00053
NM_022124.6(CDH23):c.*141G>A	rs535544696	0.00031
NM_022124.6(CDH23):c.*104G>C	rs377312107	0.00029
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr)	rs144688588	0.00026
NM_022124.6(CDH23):c.9799C>T (p.Arg3267Cys)	rs201727938	0.00016
NM_022124.6(CDH23):c.9291G>T (p.Lys3097Asn)	rs368441850	0.00006
NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp)	rs562590210	0.00001
NM_022124.6(CDH23):c.*588del	rs148667421
NM_022124.6(CDH23):c.9739-12G>A	rs200638595

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.