List of variants in gene C10orf105, CDH23 studied for Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types

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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala)	rs41281314	0.04612
NM_022124.6(CDH23):c.3986G>A (p.Gly1329Asp)	rs201877610	0.00026
NM_022124.6(CDH23):c.4000C>T (p.Arg1334Trp)	rs373276722	0.00016
NM_022124.6(CDH23):c.3262G>A (p.Val1088Met)	rs200632520	0.00009
NM_022124.6(CDH23):c.3397G>A (p.Glu1133Lys)	rs111033509	0.00008
NM_022124.6(CDH23):c.3739C>T (p.Arg1247Cys)	rs202204597	0.00003
NM_022124.6(CDH23):c.3296G>A (p.Arg1099Gln)	rs1295355040	0.00002
NM_022124.6(CDH23):c.3593T>C (p.Val1198Ala)	rs759990271	0.00001
NM_022124.6(CDH23):c.3330C>G (p.Ser1110Arg)	rs371962929
NM_022124.6(CDH23):c.4105-4_4105-2delinsTCT	rs1589384283

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.