ClinVar Miner

List of variants reported as uncertain significance for LCA5-related retinopathy by Natera, Inc.

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_001122769.3(LCA5):c.2006G>T (p.Arg669Met) rs371733166 0.00045
NM_001122769.3(LCA5):c.38A>G (p.Glu13Gly) rs186642323 0.00025
NM_001122769.3(LCA5):c.1366G>A (p.Gly456Arg) rs149091694 0.00020
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.511C>T (p.Leu171Phe) rs745520623 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.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.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.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.956-5del rs1383933327 0.00001
NM_001122769.3(LCA5):c.1085G>T (p.Gly362Val) rs899869772
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.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.790G>T (p.Ala264Ser) rs1582618974

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