ClinVar Miner

List of variants in gene FYCO1 reported as pathogenic for cataract 18

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP
FYCO1, IVS9DS, G-T, +1
NM_024513.4(FYCO1):c.1045C>T (p.Gln349Ter) rs387906963
NM_024513.4(FYCO1):c.1411C>T (p.Arg471Ter)
NM_024513.4(FYCO1):c.1546C>T (p.Gln516Ter) rs387906966
NM_024513.4(FYCO1):c.2206C>T (p.Gln736Ter) rs387906964
NM_024513.4(FYCO1):c.2505del (p.Ala836fs) rs1575369255
NM_024513.4(FYCO1):c.3327_3328del (p.Cys1110fs) rs747093432
NM_024513.4(FYCO1):c.3858_3862dup (p.Leu1288fs) rs1240503246
NM_024513.4(FYCO1):c.4127T>C (p.Leu1376Pro) rs387906965
NM_024513.4(FYCO1):c.4271G>A (p.Arg1424Gln) rs140159323

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.