ClinVar Miner

List of variants in gene CRX reported as pathogenic for Leber congenital amaurosis 7

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000554.6(CRX):c.268C>T (p.Arg90Trp) rs104894673 0.00002
GRCh37/hg19 19q13.33(chr19:48328087-48339179)
NM_000554.6(CRX):c.191del (p.Pro64fs) rs1968117526
NM_000554.6(CRX):c.450del (p.Gly151fs) rs1968165665
NM_000554.6(CRX):c.458del (p.Pro153fs) rs1968165787
NM_000554.6(CRX):c.489G>A (p.Trp163Ter) rs1968166379
NM_000554.6(CRX):c.503_504del (p.Glu168fs) rs61748446
NM_000554.6(CRX):c.512del (p.Leu171fs) rs1968166909
NM_000554.6(CRX):c.520del (p.Ala174fs) rs281865515
NM_000554.6(CRX):c.522_523dup (p.Gln175fs) rs2123743198
NM_000554.6(CRX):c.523C>T (p.Gln175Ter) rs1968167093
NM_000554.6(CRX):c.549del (p.Pro184fs) rs1968167603
NM_000554.6(CRX):c.564del (p.Ala189fs) rs2123743284
NM_000554.6(CRX):c.570del (p.Tyr191fs) rs1968168564
NM_000554.6(CRX):c.585C>A (p.Tyr195Ter) rs373497612
NM_000554.6(CRX):c.650del (p.Gly217fs) rs281865517
NM_000554.6(CRX):c.695del (p.Pro232fs) rs786205630
NM_000554.6(CRX):c.816del (p.Thr273fs) rs1968173864

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.