ClinVar Miner

List of variants reported as uncertain significance for cone-rod dystrophy 2 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 107
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HGVS dbSNP gnomAD frequency
NM_000554.6(CRX):c.*436G>T rs759530877 0.01473
NM_000554.6(CRX):c.*756T>A rs886054553 0.00270
NM_000554.6(CRX):c.*839C>T rs541379131 0.00239
NM_000322.5(PRPH2):c.-60C>T rs144011444 0.00211
NM_000554.6(CRX):c.*683G>A rs867379668 0.00149
NM_000554.6(CRX):c.*727C>T rs1360823353 0.00103
NM_000322.5(PRPH2):c.*351G>A rs551934443 0.00075
NM_000554.6(CRX):c.*2113A>G rs555800382 0.00065
NM_000322.5(PRPH2):c.*1408G>C rs573667549 0.00050
NM_000554.6(CRX):c.*392G>A rs886054550 0.00043
NM_000322.5(PRPH2):c.*592A>T rs573416213 0.00042
NM_000554.6(CRX):c.*2821G>A rs571610746 0.00041
NM_000554.6(CRX):c.-46C>T rs755040084 0.00022
NM_000322.5(PRPH2):c.*661G>A rs753202254 0.00020
NM_000322.5(PRPH2):c.*1299C>T rs535380944 0.00019
NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp) rs563581127 0.00019
NM_000554.6(CRX):c.*205G>A rs995250251 0.00018
NM_005148.4(UNC119):c.*287T>G rs746762474 0.00018
NM_000322.5(PRPH2):c.-166G>A rs886061407 0.00017
NM_000322.5(PRPH2):c.252C>T (p.Asp84=) rs139936445 0.00017
NM_000554.6(CRX):c.*1759G>T rs886054558 0.00017
NM_005148.4(UNC119):c.169A>T (p.Lys57Ter) rs267607166 0.00017
NM_000554.6(CRX):c.*2404C>T rs544403161 0.00016
NM_000554.6(CRX):c.*907C>T rs559582292 0.00015
NM_000554.6(CRX):c.*746T>C rs886054552 0.00014
NM_000554.6(CRX):c.*2402G>T rs901623400 0.00012
NM_000554.6(CRX):c.765C>T (p.Gly255=) rs145913500 0.00012
NM_005148.4(UNC119):c.-34G>T rs550443043 0.00011
NM_000554.6(CRX):c.*809C>G rs574128797 0.00010
NM_005148.4(UNC119):c.626G>A (p.Arg209His) rs375147970 0.00010
NM_000322.5(PRPH2):c.*350C>T rs769850707 0.00009
NM_000322.5(PRPH2):c.*743G>A rs941727712 0.00009
NM_000322.5(PRPH2):c.*626A>G rs1383185417 0.00008
NM_000554.6(CRX):c.*2343G>A rs928747077 0.00008
NM_005148.4(UNC119):c.*265G>A rs886052764 0.00008
NM_005148.4(UNC119):c.*378G>A rs1005163473 0.00008
NM_005148.4(UNC119):c.-44A>G rs886052767 0.00006
NM_005148.4(UNC119):c.321G>A (p.Lys107=) rs543041170 0.00006
NM_000322.5(PRPH2):c.888C>T (p.Pro296=) rs183714869 0.00005
NM_000554.6(CRX):c.*2357G>A rs1053302157 0.00005
NM_000554.6(CRX):c.*498G>A rs1004933827 0.00005
NM_000554.6(CRX):c.606C>T (p.Cys202=) rs764877352 0.00005
NM_000322.5(PRPH2):c.*417A>T rs531859483 0.00004
NM_000322.5(PRPH2):c.*917G>A rs185036139 0.00004
NM_000554.6(CRX):c.*2589T>C rs530478127 0.00004
NM_000322.5(PRPH2):c.*692C>T rs949736334 0.00003
NM_000322.5(PRPH2):c.-59G>A rs886061405 0.00003
NM_000554.6(CRX):c.*132G>A rs886054548 0.00003
NM_000554.6(CRX):c.*2573C>T rs886054559 0.00003
NM_000554.6(CRX):c.*2889G>A rs886054561 0.00003
NM_000322.5(PRPH2):c.801C>T (p.Val267=) rs189358082 0.00002
NM_000554.6(CRX):c.*2485C>T rs564202140 0.00002
NM_000554.6(CRX):c.*2611G>A rs1329072003 0.00002
NM_005148.4(UNC119):c.39G>A (p.Ala13=) rs749427491 0.00002
NM_005148.4(UNC119):c.526G>A (p.Asp176Asn) rs772710984 0.00002
NM_000322.5(PRPH2):c.*1000C>G rs1367940496 0.00001
NM_000322.5(PRPH2):c.*1007C>A rs886061400 0.00001
NM_000322.5(PRPH2):c.167A>G (p.Glu56Gly) rs1351857575 0.00001
NM_000322.5(PRPH2):c.346G>T (p.Ala116Ser) rs140227298 0.00001
NM_000322.5(PRPH2):c.374C>T (p.Ser125Leu) rs772861671 0.00001
NM_000322.5(PRPH2):c.852C>A (p.Arg284=) rs745807357 0.00001
NM_000554.6(CRX):c.*252C>T rs886054549 0.00001
NM_000554.6(CRX):c.*2544G>A rs1281739542 0.00001
NM_000554.6(CRX):c.*2785C>T rs886054560 0.00001
NM_000554.6(CRX):c.*79C>T rs769100863 0.00001
NM_000554.6(CRX):c.*908G>A rs886054554 0.00001
NM_000554.6(CRX):c.78G>A (p.Met26Ile) rs886054544 0.00001
NM_005148.4(UNC119):c.419T>G (p.Leu140Arg) rs199705690 0.00001
NM_005148.4(UNC119):c.47C>T (p.Ser16Phe) rs756038571 0.00001
NM_000322.5(PRPH2):c.*152G>C rs113384495
NM_000322.5(PRPH2):c.*1533A>G rs1799950043
NM_000322.5(PRPH2):c.*154C>T rs886061403
NM_000322.5(PRPH2):c.*1580C>G rs886061399
NM_000322.5(PRPH2):c.*213A>C rs886061402
NM_000322.5(PRPH2):c.-116C>G rs886061406
NM_000322.5(PRPH2):c.1024G>T (p.Ala342Ser) rs1799983757
NM_000322.5(PRPH2):c.484G>A (p.Glu162Lys) rs769939935
NM_000322.5(PRPH2):c.92G>T (p.Gly31Val) rs886061404
NM_000554.6(CRX):c.*110C>A rs1968176550
NM_000554.6(CRX):c.*1149G>A rs886054555
NM_000554.6(CRX):c.*1223A>G rs1968192567
NM_000554.6(CRX):c.*1309T>C rs886054556
NM_000554.6(CRX):c.*1330C>T rs1049141176
NM_000554.6(CRX):c.*2225A>G rs1968205705
NM_000554.6(CRX):c.*234G>A rs754333326
NM_000554.6(CRX):c.*2580G>A rs1968211334
NM_000554.6(CRX):c.*272T>C rs1286758532
NM_000554.6(CRX):c.*2850G>A rs769789306
NM_000554.6(CRX):c.*2935G>T rs1968215891
NM_000554.6(CRX):c.*2952G>A rs886054562
NM_000554.6(CRX):c.*2979T>C rs1968216535
NM_000554.6(CRX):c.*3077C>G rs965939233
NM_000554.6(CRX):c.*3099C>T rs1968218106
NM_000554.6(CRX):c.-55C>T rs886054543
NM_000554.6(CRX):c.105C>A (p.Ala35=) rs886054545
NM_000554.6(CRX):c.400G>A (p.Asp134Asn) rs1968164288
NM_000554.6(CRX):c.565G>C (p.Ala189Pro) rs142111462
NM_000554.6(CRX):c.616T>C (p.Ser206Pro) rs1193377720
NM_000554.6(CRX):c.651C>T (p.Gly217=) rs1968170615
NM_000554.6(CRX):c.717C>A (p.Gly239=) rs886054546
NM_000554.6(CRX):c.857T>C (p.Leu286Pro) rs886054547
NM_005148.4(UNC119):c.*115G>A rs1040198223
NM_005148.4(UNC119):c.*181G>A rs898936208
NM_005148.4(UNC119):c.*78C>T rs558661546
NM_005148.4(UNC119):c.-38C>T rs886052766
NM_005148.4(UNC119):c.262T>C (p.Phe88Leu) rs886052765
NM_005148.4(UNC119):c.689A>G (p.Asn230Ser) rs2070217294

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