ClinVar Miner

List of variants reported as uncertain significance for Leber congenital amaurosis 15 by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 36
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003322.6(TULP1):c.499+12G>C rs185636479 0.00347
NM_003322.6(TULP1):c.544A>G (p.Arg182Gly) rs142641513 0.00121
NM_003322.6(TULP1):c.797G>T (p.Gly266Val) rs150480343 0.00111
NM_003322.6(TULP1):c.1486G>A (p.Ala496Thr) rs141980901 0.00107
NM_003322.6(TULP1):c.823-4A>G rs200264819 0.00046
NM_003322.6(TULP1):c.249G>A (p.Ala83=) rs377105125 0.00029
NM_003322.6(TULP1):c.901C>G (p.Gln301Glu) rs201070350 0.00028
NM_003322.6(TULP1):c.603G>A (p.Gly201=) rs117920214 0.00021
NM_003322.6(TULP1):c.771G>A (p.Thr257=) rs189081258 0.00016
NM_003322.6(TULP1):c.1152C>T (p.Asn384=) rs371436525 0.00013
NM_003322.6(TULP1):c.541G>C (p.Val181Leu) rs576738703 0.00013
NM_003322.6(TULP1):c.1169G>A (p.Arg390His) rs139402633 0.00009
NM_003322.6(TULP1):c.184C>T (p.Pro62Ser) rs781650198 0.00009
NM_003322.6(TULP1):c.*305G>A rs149035389 0.00008
NM_003322.6(TULP1):c.296A>G (p.Lys99Arg) rs145518705 0.00006
NM_003322.6(TULP1):c.1495+3G>A rs758668547 0.00004
NM_003322.6(TULP1):c.875G>A (p.Arg292Gln) rs140460892 0.00004
NM_003322.6(TULP1):c.1112+8T>C rs1286919081 0.00002
NM_003322.6(TULP1):c.1563G>A (p.Pro521=) rs1031077618 0.00002
NM_003322.6(TULP1):c.559C>T (p.Pro187Ser) rs748334290 0.00002
NM_003322.6(TULP1):c.682G>A (p.Glu228Lys) rs1469121973 0.00002
NM_003322.6(TULP1):c.719G>A (p.Gly240Asp) rs773120841 0.00002
NM_003322.6(TULP1):c.823-8G>A rs372183095 0.00002
NM_003322.6(TULP1):c.85C>T (p.Arg29Trp) rs148838796 0.00002
NM_003322.6(TULP1):c.1569C>T (p.Cys523=) rs768536269 0.00001
NM_003322.6(TULP1):c.192T>C (p.Ala64=) rs886061337 0.00001
NM_003322.6(TULP1):c.254A>G (p.Gln85Arg) rs754040672 0.00001
NM_003322.6(TULP1):c.904G>A (p.Gly302Ser) rs765321084 0.00001
NM_003322.6(TULP1):c.*272C>G rs1231614922
NM_003322.6(TULP1):c.*278C>T rs886061335
NM_003322.6(TULP1):c.*31C>T rs886061336
NM_003322.6(TULP1):c.224C>T (p.Ser75Phe) rs1244588827
NM_003322.6(TULP1):c.26G>A (p.Arg9Gln) rs886061338
NM_003322.6(TULP1):c.477G>C (p.Arg159Ser) rs749882966
NM_003322.6(TULP1):c.647C>T (p.Ala216Val) rs754221623
NM_003322.6(TULP1):c.846G>A (p.Pro282=) rs149980694

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.