ClinVar Miner

List of variants in gene MAF studied for Cataract 21, multiple types; Ayme-gripp syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP
NC_000016.10:g.(?_79594440)_(79599922_?)del
NM_005360.5(MAF):c.1028C>T (p.Ala343Val) rs201126542
NM_005360.5(MAF):c.1110G>C (p.Glu370Asp)
NM_005360.5(MAF):c.1179G>A (p.Gln393=)
NM_005360.5(MAF):c.293C>A (p.Pro98Gln) rs878873480
NM_005360.5(MAF):c.295_312delinsTGCA (p.Gln99fs) rs1555530022
NM_005360.5(MAF):c.435_440del (p.143GA[2])
NM_005360.5(MAF):c.453C>A (p.Gly151=) rs529173060
NM_005360.5(MAF):c.528C>G (p.Gly176=)
NM_005360.5(MAF):c.611G>T (p.Gly204Val) rs867401075
NM_005360.5(MAF):c.649G>A (p.Gly217Ser)
NM_005360.5(MAF):c.678CGG[10] (p.Gly237_Gly238dup) rs887468453
NM_005360.5(MAF):c.678CGG[7] (p.Gly238del)
NM_005360.5(MAF):c.696C>A (p.Gly232=) rs868331592
NM_005360.5(MAF):c.696_710del (p.Gly234_Gly238del) rs1229626204
NM_005360.5(MAF):c.702A>C (p.Gly234=) rs779108045
NM_005360.5(MAF):c.715G>A (p.Ala239Thr) rs561314990
NM_005360.5(MAF):c.768C>G (p.His256Gln) rs1555529827
NM_005360.5(MAF):c.881G>A (p.Arg294Gln) rs1597847611
NM_005360.5(MAF):c.905C>A (p.Ala302Asp)
NM_005360.5(MAF):c.905C>T (p.Ala302Val) rs1481963503
NM_005360.5(MAF):c.914G>A (p.Cys305Tyr)
NM_005360.5(MAF):c.916C>G (p.Arg306Gly)
NM_005360.5(MAF):c.942C>T (p.His314=) rs765806184

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.