ClinVar Miner

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

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP
NM_000272.3(NPHP1):c.625-3dup rs200118387
NM_001077182.2(FSCN2):c.72delG (p.Thr25Glnfs) rs376633374
NM_002098.5(GUCA1B):c.103G>A (p.Gly35Ser) rs587783025
NM_002335.3(LRP5):c.1697G>A (p.Arg566His) rs587783024
NM_002899.3(RBP1):c.387_400delTGGGAAGGAGTTTG (p.Lys131Glyfs) rs587783020
NM_014989.5(RIMS1):c.3139delA (p.Thr1047Hisfs) rs587783021
NM_015102.4(NPHP4):c.2198G>A (p.Gly733Asp) rs587783027
NM_015102.4(NPHP4):c.2360T>A (p.Val787Glu) rs587783026
NM_020366.3(RPGRIP1):c.1892A>T (p.His631Leu) rs535922252
NM_020366.3(RPGRIP1):c.2356C>T (p.Gln786Ter) rs587783019
NM_020366.3(RPGRIP1):c.3565_3571delCGAAGGC (p.Arg1189Glyfs) rs587783012
NM_020366.3(RPGRIP1):c.832C>T (p.Arg278Ter) rs587783018
NM_025114.3(CEP290):c.1711+1G>A rs587783009
NM_025114.3(CEP290):c.2248_2249delTT (p.Leu750Thrfs) rs587783010
NM_025114.3(CEP290):c.3904C>T (p.Gln1302Ter) rs587783016
NM_025114.3(CEP290):c.6869dupA (p.Asn2290Lysfs) rs587783017
NM_153240.4(NPHP3):c.1735A>C (p.Thr579Pro) rs587783022
NM_201253.2(CRB1):c.1576C>T (p.Arg526Ter) rs114342808
NM_201253.2(CRB1):c.998G>A (p.Gly333Asp) rs587783015
NM_206933.2(USH2A):c.14243C>T (p.Ser4748Phe) rs527236126
NM_206933.2(USH2A):c.2414G>C (p.Gly805Ala) rs587783023
NM_206933.2(USH2A):c.4758+3A>G rs117798425

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.