ClinVar Miner

List of variants in gene RDH12 reported as pathogenic for Leber congenital amaurosis

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
NM_152443.3(RDH12):c.146C>T (p.Thr49Met) rs28940314
NM_152443.3(RDH12):c.152T>A (p.Ile51Asn) rs104894473
NM_152443.3(RDH12):c.164C>T (p.Thr55Met)
NM_152443.3(RDH12):c.184C>T (p.Arg62Ter) rs104894471
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile) rs28940315
NM_152443.3(RDH12):c.377C>T (p.Ala126Val) rs202126574
NM_152443.3(RDH12):c.379G>T (p.Gly127Ter) rs104894474
NM_152443.3(RDH12):c.451C>A (p.His151Asn) rs104894475
NM_152443.3(RDH12):c.451C>G (p.His151Asp) rs104894475
NM_152443.3(RDH12):c.464C>T (p.Thr155Ile) rs121434337
NM_152443.3(RDH12):c.523T>C (p.Ser175Pro) rs104894472
NM_152443.3(RDH12):c.565C>T (p.Gln189Ter) rs104894470
NM_152443.3(RDH12):c.609C>A (p.Ser203Arg)
NM_152443.3(RDH12):c.658+1G>A rs387906272
RDH12, 1-BP DEL, 776G

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.