ClinVar Miner

List of variants studied for Leber congenital amaurosis 5 by Natera, Inc.

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 66
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001122769.3(LCA5):c.71T>C (p.Leu24Ser) rs2655655 0.84544
NM_001122769.3(LCA5):c.1967G>A (p.Gly656Asp) rs1875845 0.36167
NM_001122769.3(LCA5):c.77A>C (p.Asp26Ala) rs34068461 0.14840
NM_001122769.3(LCA5):c.2006G>T (p.Arg669Met) rs371733166 0.00045
NM_001122769.3(LCA5):c.1642C>T (p.Pro548Ser) rs185347145 0.00042
NM_001122769.3(LCA5):c.38A>G (p.Glu13Gly) rs186642323 0.00025
NM_001122769.3(LCA5):c.768G>A (p.Gln256=) rs142495741 0.00024
NM_001122769.3(LCA5):c.1366G>A (p.Gly456Arg) rs149091694 0.00020
NM_001122769.3(LCA5):c.1260G>A (p.Lys420=) rs141642284 0.00012
NM_001122769.3(LCA5):c.281G>A (p.Arg94Gln) rs34531407 0.00011
NM_001122769.3(LCA5):c.1424A>G (p.Asp475Gly) rs145058393 0.00009
NM_001122769.3(LCA5):c.2047G>C (p.Ala683Pro) rs190470567 0.00009
NM_001122769.3(LCA5):c.1201G>A (p.Val401Ile) rs141821682 0.00006
NM_001122769.3(LCA5):c.1489T>C (p.Ser497Pro) rs773531972 0.00006
NM_001122769.3(LCA5):c.1055T>C (p.Met352Thr) rs1161878963 0.00005
NM_001122769.3(LCA5):c.839G>A (p.Arg280Gln) rs542672738 0.00005
NM_001122769.3(LCA5):c.1138G>A (p.Gly380Arg) rs201814494 0.00004
NM_001122769.3(LCA5):c.1800A>G (p.Lys600=) rs147032284 0.00004
NM_001122769.3(LCA5):c.1825T>C (p.Phe609Leu) rs778698913 0.00003
NM_001122769.3(LCA5):c.401A>C (p.Lys134Thr) rs200395970 0.00003
NM_001122769.3(LCA5):c.511C>T (p.Leu171Phe) rs745520623 0.00003
NM_001122769.3(LCA5):c.687G>C (p.Glu229Asp) rs201349266 0.00003
NM_001122769.3(LCA5):c.1157T>G (p.Met386Arg) rs372872674 0.00002
NM_001122769.3(LCA5):c.1415A>G (p.Asn472Ser) rs751852107 0.00002
NM_001122769.3(LCA5):c.1581C>G (p.Ile527Met) rs760574956 0.00002
NM_001122769.3(LCA5):c.1787C>T (p.Thr596Ile) rs1001422592 0.00002
NM_001122769.3(LCA5):c.497A>G (p.Asn166Ser) rs1006764386 0.00002
NM_001122769.3(LCA5):c.520C>T (p.Arg174Cys) rs374629518 0.00002
NM_001122769.3(LCA5):c.664G>C (p.Ala222Pro) rs779230735 0.00002
NM_001122769.3(LCA5):c.98C>T (p.Ser33Phe) rs745815628 0.00002
NM_001122769.3(LCA5):c.1016T>C (p.Phe339Ser) rs771402955 0.00001
NM_001122769.3(LCA5):c.103C>T (p.Arg35Ter) rs748370008 0.00001
NM_001122769.3(LCA5):c.1518C>T (p.Pro506=) rs769091728 0.00001
NM_001122769.3(LCA5):c.1533C>A (p.Phe511Leu) rs570251479 0.00001
NM_001122769.3(LCA5):c.1600G>A (p.Gly534Arg) rs376484071 0.00001
NM_001122769.3(LCA5):c.1654G>A (p.Ala552Thr) rs547237643 0.00001
NM_001122769.3(LCA5):c.1669G>A (p.Val557Met) rs751306706 0.00001
NM_001122769.3(LCA5):c.1727T>C (p.Phe576Ser) rs1674669719 0.00001
NM_001122769.3(LCA5):c.1756A>T (p.Lys586Ter) rs772573829 0.00001
NM_001122769.3(LCA5):c.181C>T (p.His61Tyr) rs768698579 0.00001
NM_001122769.3(LCA5):c.1952A>G (p.His651Arg) rs369558299 0.00001
NM_001122769.3(LCA5):c.2057C>G (p.Ser686Cys) rs778650730 0.00001
NM_001122769.3(LCA5):c.2083G>A (p.Ala695Thr) rs186454340 0.00001
NM_001122769.3(LCA5):c.2087T>C (p.Leu696Pro) rs758968702 0.00001
NM_001122769.3(LCA5):c.307C>T (p.Arg103Trp) rs757969727 0.00001
NM_001122769.3(LCA5):c.685G>C (p.Glu229Gln) rs770888765 0.00001
NM_001122769.3(LCA5):c.763C>T (p.Arg255Ter) rs151017794 0.00001
NM_001122769.3(LCA5):c.859-2A>G rs757681601 0.00001
NM_001122769.3(LCA5):c.956-5del rs1383933327 0.00001
NM_001122769.3(LCA5):c.1085G>T (p.Gly362Val) rs899869772
NM_001122769.3(LCA5):c.1242A>G (p.Arg414=) rs1769717155
NM_001122769.3(LCA5):c.1243G>T (p.Glu415Ter) rs1268307330
NM_001122769.3(LCA5):c.1397T>G (p.Met466Arg) rs1562093393
NM_001122769.3(LCA5):c.1523C>T (p.Thr508Ile) rs1189990227
NM_001122769.3(LCA5):c.1769A>G (p.Asp590Gly) rs771460783
NM_001122769.3(LCA5):c.1785T>A (p.Ile595=) rs544388502
NM_001122769.3(LCA5):c.186C>G (p.His62Gln) rs1219803534
NM_001122769.3(LCA5):c.1990A>G (p.Ser664Gly) rs552712900
NM_001122769.3(LCA5):c.2006G>A (p.Arg669Lys) rs371733166
NM_001122769.3(LCA5):c.289A>G (p.Thr97Ala) rs1387796294
NM_001122769.3(LCA5):c.551C>T (p.Ala184Val) rs758637325
NM_001122769.3(LCA5):c.642C>T (p.His214=) rs541395332
NM_001122769.3(LCA5):c.735C>T (p.Asn245=) rs781334192
NM_001122769.3(LCA5):c.759C>T (p.Phe253=) rs528612334
NM_001122769.3(LCA5):c.790G>T (p.Ala264Ser) rs1582618974
NM_001122769.3(LCA5):c.838C>T (p.Arg280Ter) rs866395428

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.