List of variants reported as likely pathogenic for perceptual disorders by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

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: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001146079.2(CLDN14):c.488C>T (p.Ala163Val)	rs143797113	0.00046
NM_022787.4(NMNAT1):c.293T>G (p.Val98Gly)	rs771336246	0.00011
NM_194248.3(OTOF):c.149G>A (p.Trp50Ter)	rs202086317	0.00004
NM_000307.5(POU3F4):c.119dup (p.Ser40fs)
NM_000441.2(SLC26A4):c.1226G>C (p.Arg409Pro)	rs111033305
NM_001142800.2(EYS):c.5644+1G>A
NM_001195263.2(PDZD7):c.2089del (p.Ala697fs)	rs1055318738
NM_001256789.3(CACNA1F):c.2086-1G>C
NM_004999.4(MYO6):c.2416+2T>C
NM_006445.4(PRPF8):c.4367C>T (p.Thr1456Ile)
NM_025114.4(CEP290):c.4028del (p.Lys1343fs)	rs1213286417
NM_145200.5(CABP4):c.625C>T (p.Arg209Ter)	rs779788706

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.