ClinVar Miner

List of variants reported as pathogenic for astigmatism

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
GRCh37/hg19 22q11.21(chr22:18894835-20311763)
GRCh37/hg19 7p22.1(chr7:5096876-5569338)x1
NM_000834.5(GRIN2B):c.2002G>A (p.Asp668Asn) rs876661151
NM_005916.5(MCM7):c.133C>T (p.Gln45Ter)
NM_005916.5(MCM7):c.776G>C (p.Gly259Ala) rs758105856
NM_013275.6(ANKRD11):c.5317G>T (p.Glu1773Ter) rs1114167291
NM_144643.4(SCLT1):c.1043del (p.Ser348fs)

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.