ClinVar Miner

List of variants reported as uncertain significance for cone-rod dystrophy 2

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 283
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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_001256789.3(CACNA1F):c.2204A>C (p.Asn735Thr) rs141159097 0.00176
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_000554.6(CRX):c.778G>A (p.Ala260Thr) rs370592248 0.00021
NM_000322.5(PRPH2):c.*661G>A rs753202254 0.00020
NM_000554.6(CRX):c.203C>T (p.Ala68Val) rs145649717 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_000554.6(CRX):c.790G>A (p.Val264Met) rs138146799 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_000554.6(CRX):c.565G>A (p.Ala189Thr) rs142111462 0.00007
NM_000554.6(CRX):c.590C>T (p.Pro197Leu) rs761290111 0.00006
NM_005148.4(UNC119):c.-44A>G rs886052767 0.00006
NM_005148.4(UNC119):c.321G>A (p.Lys107=) rs543041170 0.00006
NM_145698.5(ACBD5):c.407T>C (p.Val136Ala) rs573943806 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.344G>A (p.Arg115Gln) rs750727986 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_000350.3(ABCA4):c.5560G>T (p.Val1854Leu) rs374687000 0.00004
NM_000554.6(CRX):c.*2589T>C rs530478127 0.00004
NM_000554.6(CRX):c.332A>G (p.Gln111Arg) rs760741667 0.00004
NM_000554.6(CRX):c.335C>T (p.Ala112Val) rs61748439 0.00004
NM_000554.6(CRX):c.491G>A (p.Ser164Asn) rs1039194669 0.00004
NM_000554.6(CRX):c.619G>A (p.Ala207Thr) rs376982187 0.00004
NM_000554.6(CRX):c.818C>T (p.Thr273Met) rs281865203 0.00004
NM_000554.6(CRX):c.83A>G (p.Gln28Arg) rs781577708 0.00004
NM_000322.5(PRPH2):c.*692C>T rs949736334 0.00003
NM_000322.5(PRPH2):c.-59G>A rs886061405 0.00003
NM_000322.5(PRPH2):c.380A>G (p.Glu127Gly) rs543703718 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_000554.6(CRX):c.460A>G (p.Thr154Ala) rs763651232 0.00003
NM_000554.6(CRX):c.464C>T (p.Thr155Met) rs753466818 0.00003
NM_000554.6(CRX):c.649G>A (p.Gly217Ser) rs146869548 0.00003
NM_000322.5(PRPH2):c.801C>T (p.Val267=) rs189358082 0.00002
NM_000322.5(PRPH2):c.937C>T (p.Pro313Ser) rs746742888 0.00002
NM_000554.6(CRX):c.*2485C>T rs564202140 0.00002
NM_000554.6(CRX):c.*2611G>A rs1329072003 0.00002
NM_000554.6(CRX):c.485T>C (p.Ile162Thr) rs745628043 0.00002
NM_000554.6(CRX):c.487T>C (p.Trp163Arg) rs779912365 0.00002
NM_000554.6(CRX):c.513G>C (p.Leu171Phe) rs773154643 0.00002
NM_000554.6(CRX):c.521C>T (p.Ala174Val) rs771028537 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_206933.4(USH2A):c.10613G>A (p.Arg3538Gln) rs774844491 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.11A>G (p.Tyr4Cys) rs1211313175 0.00001
NM_000554.6(CRX):c.140C>T (p.Thr47Ile) rs1203670123 0.00001
NM_000554.6(CRX):c.142C>T (p.Arg48Trp) rs761797993 0.00001
NM_000554.6(CRX):c.205C>T (p.Arg69Cys) rs771551785 0.00001
NM_000554.6(CRX):c.20C>T (p.Pro7Leu) rs558522333 0.00001
NM_000554.6(CRX):c.225G>T (p.Lys75Asn) rs1568624864 0.00001
NM_000554.6(CRX):c.253-7C>G rs754128724 0.00001
NM_000554.6(CRX):c.269G>A (p.Arg90Gln) rs1209634994 0.00001
NM_000554.6(CRX):c.343C>T (p.Arg115Trp) rs1056691132 0.00001
NM_000554.6(CRX):c.412A>G (p.Ile138Val) rs373934471 0.00001
NM_000554.6(CRX):c.433C>T (p.Pro145Ser) rs149300196 0.00001
NM_000554.6(CRX):c.439C>T (p.Pro147Ser) rs1173779531 0.00001
NM_000554.6(CRX):c.43G>A (p.Ala15Thr) rs559181643 0.00001
NM_000554.6(CRX):c.43G>C (p.Ala15Pro) rs559181643 0.00001
NM_000554.6(CRX):c.526C>G (p.Arg176Gly) rs543243551 0.00001
NM_000554.6(CRX):c.560C>T (p.Thr187Ile) rs758125850 0.00001
NM_000554.6(CRX):c.632C>T (p.Pro211Leu) rs559042370 0.00001
NM_000554.6(CRX):c.673A>C (p.Met225Leu) rs765976845 0.00001
NM_000554.6(CRX):c.688G>C (p.Gly230Arg) rs1461832129 0.00001
NM_000554.6(CRX):c.740C>T (p.Ala247Val) rs1196719242 0.00001
NM_000554.6(CRX):c.78G>A (p.Met26Ile) rs886054544 0.00001
NM_000554.6(CRX):c.806_809dup (p.Lys270fs) rs1968173706 0.00001
NM_000554.6(CRX):c.8C>T (p.Ala3Val) rs762715327 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_206933.4(USH2A):c.8842C>T (p.Pro2948Ser) rs142315587 0.00001
GRCh38/hg38 19q13.32-13.33(chr19:47257435-47886413)x1
GRCh38/hg38 19q13.33(chr19:47794370-47886413)x1
GRCh38/hg38 19q13.33(chr19:47834312-47840923)x1
NC_000019.10:g.(?_47801775)_(47886257_?)del
NC_000019.10:g.(?_47818438)_(47886257_?)del
NC_000019.10:g.(?_47834444)_(47836394_?)del
NC_000019.10:g.(?_47839300)_(47839987_?)del
NC_000019.10:g.(?_47839320)_(47839967_?)del
NC_000019.9:g.(?_48337701)_(48337820_?)del
NC_000019.9:g.(?_48337701)_(48339671_?)dup
NC_000019.9:g.(?_48342557)_(48343224_?)dup
NM_000180.4(GUCY2D):c.2705T>C (p.Val902Ala) rs1975935914
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.521G>C (p.Trp174Ser) rs1761906296
NM_000322.5(PRPH2):c.92G>T (p.Gly31Val) rs886061404
NM_000322.5(PRPH2):c.995T>A (p.Val332Glu) rs1582759492
NM_000329.3(RPE65):c.433G>C (p.Ala145Pro) rs767528365
NM_000350.3(ABCA4):c.4340A>T (p.Glu1447Val) rs2101034896
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.100+3G>C rs1568624171
NM_000554.6(CRX):c.100+5G>A
NM_000554.6(CRX):c.105C>A (p.Ala35=) rs886054545
NM_000554.6(CRX):c.106C>T (p.Pro36Ser)
NM_000554.6(CRX):c.108del (p.Arg37fs) rs2123739840
NM_000554.6(CRX):c.119G>C (p.Arg40Pro)
NM_000554.6(CRX):c.125_128dup (p.Thr44fs) rs2123739871
NM_000554.6(CRX):c.127C>A (p.Arg43Ser) rs1437021651
NM_000554.6(CRX):c.128G>T (p.Arg43Leu) rs771736389
NM_000554.6(CRX):c.133A>G (p.Thr45Ala)
NM_000554.6(CRX):c.143G>A (p.Arg48Gln)
NM_000554.6(CRX):c.176_177del (p.Ala59fs) rs2123739943
NM_000554.6(CRX):c.182C>T (p.Thr61Ile) rs1599985527
NM_000554.6(CRX):c.196G>T (p.Val66Phe) rs61748438
NM_000554.6(CRX):c.205C>G (p.Arg69Gly)
NM_000554.6(CRX):c.211G>A (p.Glu71Lys)
NM_000554.6(CRX):c.226A>T (p.Ile76Phe) rs2123740000
NM_000554.6(CRX):c.253-1G>T
NM_000554.6(CRX):c.258G>C (p.Trp86Cys) rs1968160766
NM_000554.6(CRX):c.25C>T (p.Pro9Ser) rs2123738269
NM_000554.6(CRX):c.262A>G (p.Lys88Glu) rs1968160874
NM_000554.6(CRX):c.263A>G (p.Lys88Arg) rs1001151383
NM_000554.6(CRX):c.274G>A (p.Ala92Thr) rs786205521
NM_000554.6(CRX):c.274G>C (p.Ala92Pro) rs786205521
NM_000554.6(CRX):c.281G>A (p.Cys94Tyr)
NM_000554.6(CRX):c.319C>G (p.Pro107Ala)
NM_000554.6(CRX):c.323del (p.Pro108fs) rs1968162287
NM_000554.6(CRX):c.324del (p.Gly110fs) rs2123742895
NM_000554.6(CRX):c.349G>A (p.Ala117Thr) rs1599991109
NM_000554.6(CRX):c.362C>T (p.Ala121Val)
NM_000554.6(CRX):c.365del (p.Gly122fs) rs1968163226
NM_000554.6(CRX):c.377G>A (p.Arg126Lys) rs1299569341
NM_000554.6(CRX):c.37G>C (p.Val13Leu)
NM_000554.6(CRX):c.380C>T (p.Pro127Leu)
NM_000554.6(CRX):c.381del (p.Ser128fs) rs1599991268
NM_000554.6(CRX):c.400G>A (p.Asp134Asn) rs1968164288
NM_000554.6(CRX):c.404C>G (p.Pro135Arg) rs2123743010
NM_000554.6(CRX):c.407_416dup (p.Asp140fs) rs1968164438
NM_000554.6(CRX):c.415T>G (p.Ser139Ala) rs373281561
NM_000554.6(CRX):c.426C>A (p.Tyr142Ter) rs1968164899
NM_000554.6(CRX):c.42C>A (p.Asn14Lys) rs774344094
NM_000554.6(CRX):c.435del (p.Leu146fs) rs1968165217
NM_000554.6(CRX):c.442G>C (p.Gly148Arg) rs760080266
NM_000554.6(CRX):c.484A>C (p.Ile162Leu)
NM_000554.6(CRX):c.488G>A (p.Trp163Ter)
NM_000554.6(CRX):c.494del (p.Pro165fs) rs2123743155
NM_000554.6(CRX):c.497C>A (p.Ala166Asp)
NM_000554.6(CRX):c.501del (p.Glu168fs) rs2123743175
NM_000554.6(CRX):c.509del (p.Pro170fs) rs2123743184
NM_000554.6(CRX):c.526C>T (p.Arg176Trp) rs543243551
NM_000554.6(CRX):c.527G>A (p.Arg176Gln)
NM_000554.6(CRX):c.529del (p.Ala177fs) rs61748449
NM_000554.6(CRX):c.532G>C (p.Gly178Arg)
NM_000554.6(CRX):c.533G>C (p.Gly178Ala) rs926713896
NM_000554.6(CRX):c.541_542del (p.Ala181fs)
NM_000554.6(CRX):c.557del (p.Leu186fs)
NM_000554.6(CRX):c.565G>C (p.Ala189Pro) rs142111462
NM_000554.6(CRX):c.566C>T (p.Ala189Val)
NM_000554.6(CRX):c.575C>A (p.Ala192Asp)
NM_000554.6(CRX):c.578T>A (p.Met193Lys) rs771206912
NM_000554.6(CRX):c.581C>A (p.Thr194Asn) rs774657041
NM_000554.6(CRX):c.586G>T (p.Ala196Ser)
NM_000554.6(CRX):c.587C>T (p.Ala196Val) rs1372852556
NM_000554.6(CRX):c.591_594dup (p.Ser199fs)
NM_000554.6(CRX):c.592del (p.Ala198fs) rs1968169272
NM_000554.6(CRX):c.593C>T (p.Ala198Val) rs776232503
NM_000554.6(CRX):c.594_606del (p.Ser199fs) rs1968169319
NM_000554.6(CRX):c.597del (p.Ala200fs) rs2123743359
NM_000554.6(CRX):c.598G>A (p.Ala200Thr)
NM_000554.6(CRX):c.605del (p.Cys202fs) rs878853383
NM_000554.6(CRX):c.60C>G (p.Gly20=) rs769017861
NM_000554.6(CRX):c.616T>C (p.Ser206Pro) rs1193377720
NM_000554.6(CRX):c.626G>A (p.Gly209Glu) rs1968170166
NM_000554.6(CRX):c.628T>G (p.Ser210Ala)
NM_000554.6(CRX):c.651C>T (p.Gly217=) rs1968170615
NM_000554.6(CRX):c.658C>A (p.Pro220Thr)
NM_000554.6(CRX):c.660del (p.Tyr221fs) rs864309707
NM_000554.6(CRX):c.660dup (p.Tyr221fs) rs864309707
NM_000554.6(CRX):c.673A>G (p.Met225Val)
NM_000554.6(CRX):c.675G>C (p.Met225Ile)
NM_000554.6(CRX):c.684G>C (p.Gln228His) rs756105390
NM_000554.6(CRX):c.684_685delinsAA (p.Leu229Ile) rs1968171338
NM_000554.6(CRX):c.695C>T (p.Pro232Leu)
NM_000554.6(CRX):c.702T>C (p.Leu234=) rs992252014
NM_000554.6(CRX):c.709C>A (p.Leu237Ile)
NM_000554.6(CRX):c.713C>A (p.Ser238Tyr) rs1968172066
NM_000554.6(CRX):c.717C>A (p.Gly239=) rs886054546
NM_000554.6(CRX):c.719C>T (p.Pro240Leu)
NM_000554.6(CRX):c.728dup (p.Pro244fs) rs1968172289
NM_000554.6(CRX):c.740C>A (p.Ala247Asp)
NM_000554.6(CRX):c.750del (p.Thr251fs) rs2123743577
NM_000554.6(CRX):c.753del (p.Ser252fs) rs61749660
NM_000554.6(CRX):c.755C>T (p.Ser252Phe)
NM_000554.6(CRX):c.773A>G (p.Tyr258Cys)
NM_000554.6(CRX):c.783C>G (p.Tyr261Ter) rs2123743638
NM_000554.6(CRX):c.784A>G (p.Ser262Gly)
NM_000554.6(CRX):c.790G>T (p.Val264Leu) rs138146799
NM_000554.6(CRX):c.793G>T (p.Asp265Tyr) rs751790087
NM_000554.6(CRX):c.794A>T (p.Asp265Val) rs2123743660
NM_000554.6(CRX):c.798del (p.Leu267fs) rs2123743667
NM_000554.6(CRX):c.799T>G (p.Leu267Val)
NM_000554.6(CRX):c.806T>A (p.Phe269Tyr) rs2123743672
NM_000554.6(CRX):c.834C>A (p.Phe278Leu)
NM_000554.6(CRX):c.841A>G (p.Asn281Asp) rs2123743725
NM_000554.6(CRX):c.844C>T (p.Pro282Ser)
NM_000554.6(CRX):c.857T>C (p.Leu286Pro) rs886054547
NM_000554.6(CRX):c.85G>A (p.Ala29Thr)
NM_000554.6(CRX):c.863A>G (p.Tyr288Cys)
NM_000554.6(CRX):c.871C>T (p.Gln291Ter) rs2123743754
NM_000554.6(CRX):c.873G>T (p.Gln291His) rs1968174829
NM_000554.6(CRX):c.893T>A (p.Ile298Asn) rs2123743769
NM_000554.6(CRX):c.89T>A (p.Val30Glu)
NM_001278293.3(ARL6):c.482C>T (p.Ala161Val) rs1188627299
NM_001371596.2(MFSD8):c.1445G>C (p.Arg482Pro)
NM_004928.3(CFAP410):c.140T>C (p.Leu47Pro)
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
NM_130837.3(OPA1):c.1361T>C (p.Leu454Ser)
NM_145698.5(ACBD5):c.1446del (p.Thr483fs) rs1564578483
NM_201253.3(CRB1):c.1838_1840dup (p.Leu613_Gly614insVal) rs2125471114
NM_201253.3(CRB1):c.2980A>G (p.Lys994Glu) rs2125499116

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