ClinVar Miner

List of variants reported as likely benign for Leber congenital amaurosis 7 by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000554.6(CRX):c.472G>A (p.Ala158Thr) rs61748445 0.02598
NM_000554.6(CRX):c.*2299C>T rs73038757 0.01254
NM_000554.6(CRX):c.*1220G>A rs58323327 0.01193
NM_000554.6(CRX):c.*3117A>G rs116336713 0.01169
NM_000554.6(CRX):c.*2017C>T rs73038753 0.01017
NM_000554.6(CRX):c.365G>A (p.Gly122Asp) rs61748441 0.00614
NM_000554.6(CRX):c.*2375G>A rs188212480 0.00612
NM_000554.6(CRX):c.*1961G>A rs117186518 0.00497
NM_000554.6(CRX):c.*972C>G rs12462416 0.00473
NM_000554.6(CRX):c.*860C>T rs185098538 0.00359
NM_000554.6(CRX):c.*2396C>T rs374128749 0.00312
NM_000554.6(CRX):c.*1063C>T rs143939023 0.00231
NM_000554.6(CRX):c.196G>A (p.Val66Ile) rs61748438 0.00231
NM_000554.6(CRX):c.253-15G>A rs145805694 0.00187
NM_000554.6(CRX):c.*1148G>C rs139073763 0.00126
NM_000554.6(CRX):c.*19C>T rs79186398 0.00083
NM_000554.6(CRX):c.*527C>T rs371749408 0.00030
NM_000554.6(CRX):c.*2602C>T rs562310108 0.00012
NM_000554.6(CRX):c.*1671G>A rs550538685 0.00010
NM_000554.6(CRX):c.-39G>C rs531267959 0.00006
NM_000554.6(CRX):c.551C>T (p.Pro184Leu) rs147558800 0.00006
NM_000554.6(CRX):c.*2758C>A rs117717088

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.