List of variants studied for autosomal recessive nonsyndromic hearing loss 9 by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_194248.3(OTOF):c.2485C>T (p.Gln829Ter)	rs80356593	0.00004
NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln)	rs80356605	0.00004
NM_194248.3(OTOF):c.1544T>C (p.Ile515Thr)	rs80356586	0.00001
NM_194248.3(OTOF):c.1621G>A (p.Gly541Ser)	rs397515435	0.00001
NM_194248.3(OTOF):c.5375G>A (p.Arg1792His)	rs111033349	0.00001
NM_194248.3(OTOF):c.1651del (p.Glu551fs)	rs80356587
NM_194248.3(OTOF):c.2239G>T (p.Glu747Ter)	rs397515591
NM_194248.3(OTOF):c.2866+1G>A	rs2148047884
NM_194248.3(OTOF):c.3032T>C (p.Leu1011Pro)	rs80356596
NM_194248.3(OTOF):c.4491T>A (p.Tyr1497Ter)	rs80356600
NM_194248.3(OTOF):c.4960+1G>C	rs80356602
NM_194248.3(OTOF):c.5473C>G (p.Pro1825Ala)	rs28937591
NM_194248.3(OTOF):c.766-2A>G	rs80356584
NM_194323.3(OTOF):c.3659C>G (p.Pro1220Arg)	rs121908598

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.