List of variants reported as likely pathogenic for autosomal recessive nonsyndromic hearing loss 4 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_000441.2(SLC26A4):c.349C>T (p.Leu117Phe)	rs145254330	0.00017
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile)	rs397516421	0.00006
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val)	rs111033242	0.00005
NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly)	rs757820624	0.00003
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr)	rs542620119	0.00003
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr)	rs111033454	0.00001
NM_002241.5(KCNJ10):c.76C>T (p.Arg26Ter)	rs138943405	0.00001
NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val)	rs146281367
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del)	rs111033306
NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg)	rs768471577
NM_000441.2(SLC26A4):c.1707+2T>C	rs1554360707
NM_000441.2(SLC26A4):c.1708-1G>T	rs759414956
NM_002241.5(KCNJ10):c.889C>T (p.Arg297Cys)	rs137853071

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.