List of variants in gene RDX reported as pathogenic for Autosomal recessive nonsyndromic hearing loss 24

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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002906.4(RDX):c.698+1G>A	rs1191259480	0.00001
NM_002906.4(RDX):c.1076_1079del (p.Ile359fs)
NM_002906.4(RDX):c.1108C>T (p.Arg370Ter)	rs1463925107
NM_002906.4(RDX):c.129G>A (p.Trp43Ter)	rs1412883921
NM_002906.4(RDX):c.1308del (p.Lys438fs)	rs727504709
NM_002906.4(RDX):c.1346del (p.Ala449fs)	rs2134302220
NM_002906.4(RDX):c.1405dup (p.Ala469fs)	rs1372141763
NM_002906.4(RDX):c.1732G>A (p.Asp578Asn)	rs121918379
NM_002906.4(RDX):c.463C>T (p.Gln155Ter)	rs121918380
NM_002906.4(RDX):c.551+2T>C	rs1591158999

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.