List of variants reported as likely benign for Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types by Fulgent Genetics, Fulgent Genetics

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

Total variants: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_022124.6(CDH23):c.429+18T>C	rs141451003	0.02288
NM_022124.6(CDH23):c.4846-19G>C	rs80261750	0.00835
NM_022124.6(CDH23):c.1449+76C>A	rs41281304	0.00518
NM_022153.2(VSIR):c.839C>T (p.Ser280Leu)	rs143240262	0.00376
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr)	rs181255269	0.00078
NM_022124.6(CDH23):c.832+8A>G	rs56129333	0.00048
NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile)	rs181611778	0.00007
NM_022124.6(CDH23):c.5130C>T (p.Ile1710=)	rs111033487
NM_022124.6(CDH23):c.7113C>T (p.Thr2371=)	rs747544364
NM_022124.6(CDH23):c.8120_8121delinsTT (p.Pro2707Leu)	rs876657422
NM_022124.6(CDH23):c.8121G>T (p.Pro2707=)	rs377535432
NM_022124.6(CDH23):c.8229C>T (p.Arg2743=)	rs372996083
NM_022124.6(CDH23):c.9885C>T (p.Thr3295=)	rs1382062973

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.