List of variants in gene OTOA reported as pathogenic for Autosomal recessive nonsyndromic hearing loss 22

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: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter)	rs200988634	0.00927
NM_144672.4(OTOA):c.1352G>A (p.Gly451Asp)	rs200656442	0.00001
NM_144672.4(OTOA):c.1879C>T (p.Pro627Ser)	rs587777133	0.00001
NC_000016.8:g.(21419562_?)_(?_21746863)del
NC_000016.9:g.(?_21675288)_(21772051_?)del
NM_144672.4(OTOA):c.1025A>T (p.Asp342Val)	rs1060499804
NM_144672.4(OTOA):c.1320+2T>C	rs1567381218
NM_144672.4(OTOA):c.1537del (p.Ala513fs)	rs2507033909
NM_144672.4(OTOA):c.1560_1563del (p.Phe521fs)	rs2141700836
NM_144672.4(OTOA):c.1765del (p.Gln589fs)	rs775776282
NM_144672.4(OTOA):c.3292C>T (p.Gln1098Ter)	rs2507129824
NM_144672.4(OTOA):c.806C>A (p.Ser269Ter)	rs201002358
NM_144672.4(OTOA):c.828del (p.Ser277fs)	rs751447996
NM_144672.4(OTOA):c.938del (p.Ser313fs)

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.