List of variants in gene SLC26A4 reported as pathogenic for Autosomal recessive nonsyndromic hearing loss 4; Pendred syndrome

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: 33

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)	rs111033212	0.00077
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val)	rs111033303	0.00039
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro)	rs80338848	0.00035
NM_000441.2(SLC26A4):c.1001+1G>A	rs80338849	0.00029
NM_000441.2(SLC26A4):c.-3-2A>G	rs397516411	0.00027
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro)	rs28939086	0.00021
NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe)	rs111033199	0.00019
NM_000441.2(SLC26A4):c.919-2A>G	rs111033313	0.00018
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly)	rs111033244	0.00016
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln)	rs111033205	0.00011
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)	rs111033305	0.00006
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met)	rs111033220	0.00004
NM_000441.2(SLC26A4):c.1149+3A>G	rs111033314	0.00002
NM_000441.2(SLC26A4):c.1343C>T (p.Ser448Leu)	rs747076316	0.00002
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val)	rs786204474	0.00001
NM_000441.2(SLC26A4):c.1238A>G (p.Gln413Arg)	rs142498437	0.00001
NM_000441.2(SLC26A4):c.1614+1G>A	rs111033312	0.00001
NM_000441.2(SLC26A4):c.1707+5G>A	rs192366176	0.00001
NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu)	rs200455203	0.00001
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile)	rs111033348	0.00001
NM_000441.2(SLC26A4):c.109G>T (p.Glu37Ter)	rs371544695
NM_000441.2(SLC26A4):c.1178TCT[1] (p.Phe394del)	rs777008062
NM_000441.2(SLC26A4):c.1198del (p.Cys400fs)	rs397516413
NM_000441.2(SLC26A4):c.1264-1G>C	rs111033311
NM_000441.2(SLC26A4):c.1540C>A (p.Gln514Lys)	rs121908366
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln)	rs111033318
NM_000441.2(SLC26A4):c.221G>A (p.Trp74Ter)
NM_000441.2(SLC26A4):c.334C>T (p.Pro112Ser)	rs1409565648
NM_000441.2(SLC26A4):c.416-1G>A	rs1057516988
NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg)	rs111033380
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)	rs111033256
NM_000441.2(SLC26A4):c.754T>C (p.Ser252Pro)	rs1315422549
NM_000441.2(SLC26A4):c.997dup (p.Arg333fs)	rs431905486

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.