List of variants reported as benign for Autosomal dominant nonsyndromic hearing loss 2A by Genome-Nilou Lab

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: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004700.4(KCNQ4):c.708+14G>C	rs2361660	0.66283
NM_004700.4(KCNQ4):c.777T>C (p.Ala259=)	rs4660468	0.65693
NM_004700.4(KCNQ4):c.1365T>G (p.His455Gln)	rs34287852	0.16898
NM_004700.4(KCNQ4):c.315-18C>T	rs13374844	0.15526
NM_004700.4(KCNQ4):c.315-16C>T	rs13374845	0.15351
NM_004700.4(KCNQ4):c.873G>A (p.Pro291=)	rs12117176	0.07614
NM_004700.4(KCNQ4):c.879A>G (p.Thr293=)	rs12143503	0.07598
NM_004700.4(KCNQ4):c.1665G>A (p.Pro555=)	rs55964611	0.03837
NM_004700.4(KCNQ4):c.841T>C (p.Leu281=)	rs55737429	0.03713
NM_004700.4(KCNQ4):c.1657C>T (p.Leu553=)	rs55925184	0.03211
NM_004700.4(KCNQ4):c.1292+12G>A	rs200426006	0.00200
NM_004700.4(KCNQ4):c.1818C>G (p.Asp606Glu)	rs139835231	0.00103
NM_004700.4(KCNQ4):c.1986C>G (p.Pro662=)	rs191631836	0.00103
NM_004700.4(KCNQ4):c.972G>A (p.Leu324=)	rs137896524	0.00085
NM_004700.4(KCNQ4):c.946-12C>G	rs146802754	0.00041
NM_004700.4(KCNQ4):c.1325T>C (p.Met442Thr)	rs142453905	0.00016

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.