List of variants studied for perceptual disorders by Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center

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

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_016366.3(CABP2):c.637+1G>T	rs149712664	0.00102
NM_001146079.2(CLDN14):c.488C>T (p.Ala163Val)	rs143797113	0.00046
NM_001378609.3(OTOGL):c.95C>T (p.Ser32Leu)	rs760011677	0.00016
NM_016239.4(MYO15A):c.8090T>C (p.Val2697Ala)	rs200451098	0.00013
NM_004999.4(MYO6):c.3029G>A (p.Arg1010Gln)	rs374966499	0.00004
NM_001378609.3(OTOGL):c.1351G>C (p.Ala451Pro)
NM_004004.6(GJB2):c.35del (p.Gly12fs)	rs80338939
NM_004086.3(COCH):c.1625G>T (p.Cys542Phe)	rs121908932
NM_004523.4(KIF11):c.1039_1040del (p.Leu347fs)	rs730882061
NM_004523.4(KIF11):c.209T>C (p.Met70Thr)
NM_006269.2(RP1):c.160del (p.Val54fs)
NM_016239.4(MYO15A):c.4207-8C>G

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.