List of variants studied for Leber congenital amaurosis 1 by Molecular Diagnostics Laboratory, Seoul National University Hospital

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_206933.4(USH2A):c.4758+3A>G	rs117798425	0.00056
NM_012418.4(FSCN2):c.72del (p.Thr25fs)	rs376633374	0.00024
NM_206933.4(USH2A):c.2414G>C (p.Gly805Ala)	rs587783023	0.00009
NM_015102.5(NPHP4):c.2198G>A (p.Gly733Asp)	rs587783027	0.00006
NM_002098.6(GUCA1B):c.103G>A (p.Gly35Ser)	rs587783025	0.00002
NM_002899.5(RBP1):c.387_400del (p.Lys131fs)	rs587783020	0.00002
NM_002335.4(LRP5):c.1697G>A (p.Arg566His)	rs587783024	0.00001
NM_000272.3(NPHP1):c.625-3dup	rs200118387
NM_014989.7(RIMS1):c.3139del (p.Thr1047fs)	rs587783021
NM_015102.5(NPHP4):c.2360T>A (p.Val787Glu)	rs587783026
NM_153240.5(NPHP3):c.1735A>C (p.Thr579Pro)	rs587783022
NM_206933.4(USH2A):c.14243C>T (p.Ser4748Phe)	rs527236126

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.