ClinVar Miner

List of variants studied for Leber congenital amaurosis by DBGen Ocular Genomics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001378454.1(ALMS1):c.10816C>T (p.Arg3606Trp) rs1250097723 0.00001
NM_001023570.4(IQCB1):c.1194G>A (p.Trp398Ter) rs1948821736
NM_001023570.4(IQCB1):c.214C>T (p.Arg72Ter) rs201405662
NM_001378454.1(ALMS1):c.3345dup (p.Leu1116fs) rs2103778571
NM_001378454.1(ALMS1):c.4244del (p.Gly1415fs) rs2103781993
NM_001378454.1(ALMS1):c.7367_7370del (p.Ile2456fs) rs2103793713
NM_001378454.1(ALMS1):c.7879_7880insACAG (p.Val2627fs) rs2103889898
NM_001378454.1(ALMS1):c.8725C>T (p.Gln2909Ter) rs1188328539
NM_014714.4(IFT140):c.2501G>C (p.Arg834Pro) rs771116194
NM_014714.4(IFT140):c.2834T>C (p.Leu945Pro) rs2141175065
NM_015272.5(RPGRIP1L):c.872A>G (p.Gln291Arg)
NM_021728.4(OTX2):c.698del (p.Asn233fs) rs2139528052

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.