List of variants reported as uncertain significance for Choroidal dystrophy, central areolar, 1; Cone-rod dystrophy 6; Leber congenital amaurosis 1; Night blindness, congenital stationary, type1i

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_000180.4(GUCY2D):c.74C>T (p.Ser25Phe)	rs557108466	0.00228
NM_000180.4(GUCY2D):c.1093C>T (p.Arg365Trp)	rs138836357	0.00069
NM_000180.4(GUCY2D):c.1081G>A (p.Val361Met)	rs186508466	0.00057
NM_000180.4(GUCY2D):c.2179G>A (p.Gly727Ser)	rs146820642	0.00053
NM_000180.4(GUCY2D):c.1984G>A (p.Val662Met)	rs143585840	0.00021
NM_000180.4(GUCY2D):c.2318T>C (p.Met773Thr)	rs143650826	0.00019
NM_000180.4(GUCY2D):c.121C>T (p.Leu41Phe)	rs61749664	0.00010
NM_000180.4(GUCY2D):c.2059C>T (p.His687Tyr)	rs751340355	0.00005
NM_000180.4(GUCY2D):c.1672G>A (p.Asp558Asn)	rs188568530	0.00002
NM_000180.4(GUCY2D):c.2146G>A (p.Asp716Asn)	rs755464893	0.00001
NM_000180.4(GUCY2D):c.1214_1216delinsCAA (p.Leu405_Asp406delinsProAsn)
NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del)	rs552184470
NM_000180.4(GUCY2D):c.1556C>T (p.Thr519Ile)	rs549834851
NM_000180.4(GUCY2D):c.1789G>A (p.Gly597Arg)
NM_000180.4(GUCY2D):c.2111A>G (p.Glu704Gly)
NM_000180.4(GUCY2D):c.49T>C (p.Cys17Arg)	rs1008930073

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.