ClinVar Miner

List of variants reported as likely benign for cone-rod dystrophy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 164
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HGVS dbSNP gnomAD frequency
NM_020366.4(RPGRIP1):c.3340-15C>T rs28664100 0.05325
NM_014336.5(AIPL1):c.*1658T>C rs78526307 0.05230
NM_022367.4(SEMA4A):c.2138G>A (p.Arg713Gln) rs41265017 0.03176
NM_000554.6(CRX):c.472G>A (p.Ala158Thr) rs61748445 0.02598
NM_020366.4(RPGRIP1):c.3719G>A (p.Gly1240Glu) rs34725281 0.02464
NM_172364.5(CACNA2D4):c.*1078del rs3214264 0.02123
NM_014336.5(AIPL1):c.111C>T (p.Phe37=) rs11650007 0.02008
NM_014336.5(AIPL1):c.341C>T (p.Thr114Ile) rs8069375 0.01781
NM_177965.4(CFAP418):c.450G>A (p.Ser150=) rs35141355 0.01707
NM_177965.4(CFAP418):c.156-11C>T rs74652296 0.01693
NM_177965.4(CFAP418):c.*2330C>T rs150859301 0.01689
NM_177965.4(CFAP418):c.*791G>T rs140209136 0.01687
NM_022367.4(SEMA4A):c.2187G>A (p.Pro729=) rs41265019 0.01581
NM_177965.4(CFAP418):c.*2166T>G rs149998549 0.01510
NM_014336.5(AIPL1):c.286G>A (p.Val96Ile) rs62619924 0.01285
NM_001384910.1(GUCA1A):c.567C>T (p.Asp189=) rs34925828 0.01271
NM_001384910.1(GUCA1A):c.*76C>A rs76792280 0.01120
NM_022367.4(SEMA4A):c.2044C>T (p.Pro682Ser) rs76381440 0.01066
NM_000326.5(RLBP1):c.346+3_346+8del rs56307321 0.00878
NM_003816.3(ADAM9):c.1071C>T (p.His357=) rs61753674 0.00852
NM_033100.4(CDHR1):c.*3061G>A rs115392528 0.00740
NM_005148.4(UNC119):c.65G>T (p.Gly22Val) rs199714731 0.00691
NM_033100.4(CDHR1):c.-1C>T rs114273269 0.00682
NM_033100.4(CDHR1):c.-64G>A rs531194884 0.00681
NM_001384910.1(GUCA1A):c.*345G>A rs115636833 0.00658
NM_000554.6(CRX):c.365G>A (p.Gly122Asp) rs61748441 0.00614
NM_014336.5(AIPL1):c.277-14G>A rs117749485 0.00585
NM_033100.4(CDHR1):c.*1694T>C rs140640986 0.00528
NM_001384910.1(GUCA1A):c.*331A>G rs45553838 0.00510
NM_022367.4(SEMA4A):c.1434+12C>A rs114835695 0.00483
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484 0.00475
NM_177965.4(CFAP418):c.*536A>C rs150311212 0.00470
NM_003816.3(ADAM9):c.*954A>T rs368056753 0.00453
NM_001384910.1(GUCA1A):c.*415C>T rs182201426 0.00439
NM_020366.4(RPGRIP1):c.930+3A>G rs150107283 0.00419
NM_022367.4(SEMA4A):c.2027C>T (p.Ala676Val) rs75447909 0.00399
NM_001384910.1(GUCA1A):c.9C>T (p.Asn3=) rs116114043 0.00387
NM_000326.5(RLBP1):c.*356G>A rs190236976 0.00366
NM_003816.3(ADAM9):c.226G>A (p.Glu76Lys) rs61753672 0.00344
NM_020366.4(RPGRIP1):c.1767G>T (p.Gln589His) rs34067949 0.00344
NM_000326.5(RLBP1):c.*217A>C rs150636501 0.00319
NM_172364.5(CACNA2D4):c.3310-8G>A rs186998620 0.00315
NM_033100.4(CDHR1):c.2430C>A (p.Thr810=) rs149954991 0.00287
NM_000326.5(RLBP1):c.29T>A (p.Met10Lys) rs77384282 0.00272
NM_003816.3(ADAM9):c.*486A>G rs147547357 0.00267
NM_001384910.1(GUCA1A):c.*627T>A rs56285673 0.00261
NM_172364.5(CACNA2D4):c.2239A>G (p.Met747Val) rs34007338 0.00255
NM_172364.5(CACNA2D4):c.*1597G>C rs115232565 0.00237
NM_172364.5(CACNA2D4):c.2009-3C>T rs185220718 0.00233
NM_172364.5(CACNA2D4):c.2891C>T (p.Ala964Val) rs201325274 0.00231
NM_172364.5(CACNA2D4):c.2921+7G>C rs202022529 0.00229
NM_014336.5(AIPL1):c.516T>C (p.His172=) rs62637017 0.00220
NM_172364.5(CACNA2D4):c.-174C>T rs374494829 0.00214
NM_172364.5(CACNA2D4):c.*123A>G rs188926382 0.00200
NM_031220.4(PITPNM3):c.*3132T>A rs570730657 0.00197
NM_033100.4(CDHR1):c.*3715C>T rs192466673 0.00189
NM_000554.6(CRX):c.253-15G>A rs145805694 0.00187
NM_003816.3(ADAM9):c.914+8T>A rs377447230 0.00173
NM_172364.5(CACNA2D4):c.2095C>T (p.Leu699Phe) rs151121191 0.00130
NM_000554.6(CRX):c.*1148G>C rs139073763 0.00126
NM_014336.5(AIPL1):c.*33A>C rs140472462 0.00126
NM_000326.4(RLBP1):c.-354C>T rs117193134 0.00123
NM_172364.5(CACNA2D4):c.*1403C>G rs148710446 0.00099
NM_000322.5(PRPH2):c.708C>T (p.Tyr236=) rs61755813 0.00062
NM_000554.6(CRX):c.28C>G (p.His10Asp) rs139340178 0.00060
NM_172364.5(CACNA2D4):c.2649C>T (p.Cys883=) rs184770223 0.00060
NM_014989.7(RIMS1):c.2294A>G (p.Gln765Arg) rs199629596 0.00050
NM_033100.4(CDHR1):c.*2226C>T rs74584525 0.00046
NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu) rs61748434 0.00044
NM_000322.5(PRPH2):c.*20C>T rs180775924 0.00042
NM_003816.3(ADAM9):c.1394G>A (p.Arg465Gln) rs78001852 0.00042
NM_014989.7(RIMS1):c.4159C>T (p.Arg1387Trp) rs201017334 0.00039
NM_006017.3(PROM1):c.2112C>T (p.Arg704=) rs375358457 0.00036
NM_000554.6(CRX):c.597C>T (p.Ser199=) rs61748455 0.00033
NM_014989.7(RIMS1):c.3703G>A (p.Gly1235Arg) rs200637817 0.00033
NM_031220.4(PITPNM3):c.1688C>T (p.Thr563Met) rs139119218 0.00030
NM_014989.7(RIMS1):c.2523A>G (p.Glu841=) rs186078277 0.00029
NM_006017.3(PROM1):c.963G>T (p.Leu321Phe) rs202041422 0.00026
NM_014989.7(RIMS1):c.4191G>A (p.Lys1397=) rs372513852 0.00025
NM_014989.7(RIMS1):c.3430C>T (p.Arg1144Ter) rs202076893 0.00024
NM_006017.3(PROM1):c.2271C>T (p.Ile757=) rs375986111 0.00022
NM_031220.4(PITPNM3):c.1124C>T (p.Pro375Leu) rs138671220 0.00022
NM_006017.3(PROM1):c.181A>G (p.Ile61Val) rs201701647 0.00021
NM_031220.4(PITPNM3):c.576G>A (p.Ser192=) rs145362623 0.00021
NM_000554.6(CRX):c.549G>A (p.Gly183=) rs61748451 0.00020
NM_006017.3(PROM1):c.843C>T (p.His281=) rs374394451 0.00019
NM_031220.4(PITPNM3):c.507C>A (p.Phe169Leu) rs367702668 0.00019
NM_014989.7(RIMS1):c.3399-4A>G rs368216570 0.00017
NM_003816.3(ADAM9):c.887G>A (p.Arg296Gln) rs140082569 0.00016
NM_006017.3(PROM1):c.1279T>C (p.Leu427=) rs200710798 0.00016
NM_014989.7(RIMS1):c.4197C>T (p.Thr1399=) rs201885523 0.00016
NM_014989.7(RIMS1):c.798A>G (p.Glu266=) rs755868505 0.00016
NM_172364.5(CACNA2D4):c.2516C>T (p.Ala839Val) rs146752598 0.00016
NM_003816.3(ADAM9):c.1236T>C (p.Tyr412=) rs78451751 0.00015
NM_014989.7(RIMS1):c.4945T>A (p.Ser1649Thr) rs201355053 0.00014
NM_172364.5(CACNA2D4):c.1563G>A (p.Thr521=) rs11062013 0.00014
NM_000326.4(RLBP1):c.-285C>G rs574201786 0.00013
NM_000554.6(CRX):c.*6G>A rs375770558 0.00013
NM_006017.3(PROM1):c.731G>A (p.Arg244Gln) rs369815021 0.00011
NM_031220.4(PITPNM3):c.914C>T (p.Ala305Val) rs145148072 0.00011
NM_000322.5(PRPH2):c.*1079G>A rs572613522 0.00010
NM_014989.7(RIMS1):c.169G>C (p.Val57Leu) rs200005095 0.00010
NM_014989.7(RIMS1):c.2894C>T (p.Pro965Leu) rs752875047 0.00010
NM_000554.6(CRX):c.*2040G>A rs139340702 0.00009
NM_031220.4(PITPNM3):c.351+15G>A rs549825421 0.00009
NM_014989.7(RIMS1):c.3921G>T (p.Gly1307=) rs769179703 0.00008
NM_006017.3(PROM1):c.717C>T (p.Gly239=) rs763697898 0.00007
NM_014989.7(RIMS1):c.3758C>T (p.Pro1253Leu) rs367601102 0.00007
NM_000322.5(PRPH2):c.1008C>T (p.Gly336=) rs752365478 0.00006
NM_000554.6(CRX):c.*16T>C rs371964860 0.00006
NM_014989.7(RIMS1):c.423G>A (p.Ala141=) rs377211296 0.00006
NM_001319074.4(RAX2):c.131G>A (p.Arg44Gln) rs370757303 0.00005
NM_006017.3(PROM1):c.1152G>C (p.Arg384Ser) rs201748228 0.00005
NM_006017.3(PROM1):c.2582+9A>C rs200033458 0.00005
NM_014989.7(RIMS1):c.826G>A (p.Gly276Arg) rs757160554 0.00005
NM_031220.4(PITPNM3):c.1018C>T (p.Arg340Trp) rs776506570 0.00005
NM_031220.4(PITPNM3):c.243G>A (p.Pro81=) rs773821376 0.00005
NM_000322.5(PRPH2):c.312C>T (p.Ile104=) rs200009675 0.00004
NM_005148.4(UNC119):c.*7G>A rs370209476 0.00004
NM_006017.3(PROM1):c.1195C>T (p.Arg399Cys) rs770268627 0.00004
NM_006017.3(PROM1):c.1199T>C (p.Leu400Pro) rs140682455 0.00004
NM_006017.3(PROM1):c.1407G>A (p.Pro469=) rs763710252 0.00004
NM_006017.3(PROM1):c.2364C>T (p.Ile788=) rs551849678 0.00004
NM_031220.4(PITPNM3):c.747G>A (p.Lys249=) rs371282530 0.00004
NM_031220.4(PITPNM3):c.853G>A (p.Asp285Asn) rs751707041 0.00004
NM_031220.4(PITPNM3):c.915G>A (p.Ala305=) rs373564103 0.00004
NM_001319074.4(RAX2):c.385G>A (p.Val129Met) rs758285438 0.00003
NM_006017.3(PROM1):c.1301+10T>A rs192338518 0.00003
NM_006017.3(PROM1):c.1301+11C>A rs189953160 0.00003
NM_006017.3(PROM1):c.276+15G>T rs766012920 0.00003
NM_014989.7(RIMS1):c.1384C>A (p.Pro462Thr) rs541997223 0.00003
NM_014989.7(RIMS1):c.1758G>A (p.Thr586=) rs374761298 0.00003
NM_014989.7(RIMS1):c.39C>G (p.Pro13=) rs538562890 0.00003
NM_014989.7(RIMS1):c.4599C>T (p.Thr1533=) rs200818374 0.00003
NM_031220.4(PITPNM3):c.1019G>A (p.Arg340Gln) rs144563288 0.00003
NM_000322.5(PRPH2):c.454A>G (p.Met152Val) rs146703538 0.00002
NM_000322.5(PRPH2):c.955T>C (p.Phe319Leu) rs139329966 0.00002
NM_006017.3(PROM1):c.1377C>T (p.Gly459=) rs779072238 0.00002
NM_006017.3(PROM1):c.1468A>T (p.Ser490Cys) rs536622788 0.00002
NM_006017.3(PROM1):c.2578A>G (p.Thr860Ala) rs747844753 0.00002
NM_031220.4(PITPNM3):c.1538G>A (p.Arg513His) rs548588951 0.00002
NM_001319074.4(RAX2):c.19G>A (p.Glu7Lys) rs556179949 0.00001
NM_001319074.4(RAX2):c.49G>C (p.Gly17Arg) rs766488722 0.00001
NM_006017.3(PROM1):c.1710C>T (p.Tyr570=) rs201644238 0.00001
NM_020366.4(RPGRIP1):c.3239-14C>T rs542859849 0.00001
NM_031220.4(PITPNM3):c.1942C>T (p.Pro648Ser) rs141159316 0.00001
NM_000326.5(RLBP1):c.105C>T (p.Gly35=) rs373881009
NM_001319074.4(RAX2):c.76A>C (p.Lys26Gln) rs370364475
NM_001384910.1(GUCA1A):c.*227C>A rs566678219
NM_005148.4(UNC119):c.*385T>C rs541479092
NM_005148.4(UNC119):c.509A>G (p.Gln170Arg) rs561712812
NM_005148.4(UNC119):c.586T>C (p.Phe196Leu) rs145972313
NM_006017.3(PROM1):c.158G>A (p.Gly53Asp) rs755064227
NM_014336.5(AIPL1):c.*1289G>A rs11869118
NM_014336.5(AIPL1):c.*1568G>A rs11869066
NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu) rs150427474
NM_014989.7(RIMS1):c.928C>T (p.Arg310Cys) rs758719701
NM_031220.4(PITPNM3):c.368G>A (p.Arg123His) rs762779113
NM_033100.4(CDHR1):c.*1915C>G rs41291362
NM_172364.5(CACNA2D4):c.*1334A>G rs574025393
NM_172364.5(CACNA2D4):c.1239G>A (p.Pro413=) rs201783863
NM_172364.5(CACNA2D4):c.1239G>T (p.Pro413=) rs201783863
NM_172364.5(CACNA2D4):c.419C>T (p.Ala140Val) rs202054008
NM_177965.4(CFAP418):c.*2212C>T rs79305170

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