ClinVar Miner

List of variants studied for cone-rod dystrophy by Genome-Nilou Lab

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 186
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HGVS dbSNP gnomAD frequency
NM_015072.5(TTLL5):c.1709-7T>C rs2359870 0.99609
NM_000350.3(ABCA4):c.141A>G (p.Pro47=) rs4847281 0.98746
NM_014989.7(RIMS1):c.1083A>G (p.Leu361=) rs2463730 0.97497
NM_172364.5(CACNA2D4):c.228-215T>C rs758157 0.93628
NM_172364.5(CACNA2D4):c.843-83C>G rs2906892 0.91687
NM_172364.5(CACNA2D4):c.979A>G (p.Ile327Val) rs10735005 0.91686
NM_172364.5(CACNA2D4):c.1351+72A>G rs2429184 0.91685
NM_172364.5(CACNA2D4):c.310-106A>G rs1558142 0.90569
NM_172364.5(CACNA2D4):c.2471-27_2471-26insG rs58188909 0.89524
NM_031220.4(PITPNM3):c.2430T>C (p.Asp810=) rs11654099 0.88577
NM_172364.5(CACNA2D4):c.2247-35A>G rs7137876 0.84213
NM_003816.3(ADAM9):c.1303-47C>A rs9643905 0.79676
NM_000350.3(ABCA4):c.6069T>C (p.Ile2023=) rs1762114 0.78856
NM_172364.5(CACNA2D4):c.2342+92G>T rs7138458 0.78150
NM_172240.3(POC1B):c.1113+7C>T rs4842658 0.75411
NM_172364.5(CACNA2D4):c.1068+89T>C rs10774003 0.72251
NM_014989.7(RIMS1):c.666A>G (p.Leu222=) rs2249021 0.68629
NM_000350.3(ABCA4):c.5585-70C>T rs537831 0.65778
NM_000350.3(ABCA4):c.4773+48C>T rs472908 0.62724
NM_033100.4(CDHR1):c.2439T>C (p.Thr813=) rs3814213 0.58250
NM_000350.3(ABCA4):c.4128+156C>T rs4147841 0.56024
NM_033100.4(CDHR1):c.477A>G (p.Ala159=) rs4933975 0.52743
NM_022367.4(SEMA4A):c.1716C>T (p.Pro572=) rs12401573 0.52167
NM_172364.5(CACNA2D4):c.2659-37G>A rs2286377 0.51307
NM_031220.4(PITPNM3):c.705C>T (p.Thr235=) rs938288 0.50749
NM_001171971.3(CDHR1):c.2145G>A (p.Leu715=) rs4244947 0.49096
NM_020366.4(RPGRIP1):c.574A>G (p.Lys192Glu) rs6571751 0.48811
NM_000350.3(ABCA4):c.302+26A>G rs2297634 0.48752
NM_015072.5(TTLL5):c.446C>T (p.Ala149Val) rs2303345 0.48575
NM_000350.3(ABCA4):c.1240-14C>T rs4147830 0.47169
NM_001349884.2(DRAM2):c.693+14A>G rs325916 0.44754
NM_172364.5(CACNA2D4):c.*55A>C rs2058111 0.44223
NM_033100.4(CDHR1):c.1662A>G (p.Glu554=) rs10749482 0.42520
NM_172364.5(CACNA2D4):c.1940+49A>G rs10848582 0.40511
NM_006017.3(PROM1):c.303+6G>A rs2078622 0.39397
NM_031220.4(PITPNM3):c.1625-9G>A rs11654175 0.36838
NM_006017.3(PROM1):c.2374-6T>C rs6449209 0.34571
NM_020366.4(RPGRIP1):c.1152-65G>A rs3748357 0.34499
NM_031220.4(PITPNM3):c.238G>A (p.Ala80Thr) rs3809835 0.30670
NM_014989.7(RIMS1):c.1209G>A (p.Ala403=) rs114505309 0.27986
NM_020366.4(RPGRIP1):c.3097G>C (p.Glu1033Gln) rs3748361 0.25511
NM_001349884.2(DRAM2):c.601-9A>G rs325917 0.24497
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=) rs1801574 0.23813
NM_006017.3(PROM1):c.2582+43C>T rs11725522 0.22440
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=) rs4147857 0.20473
NM_000350.3(ABCA4):c.5715-25A>C rs4147856 0.20432
NM_006017.3(PROM1):c.2281-6C>G rs3815344 0.20394
NM_000350.3(ABCA4):c.5836-11G>A rs1800739 0.20309
NM_000328.3(RPGR):c.2241+11T>C rs4084271 0.20121
NM_000180.4(GUCY2D):c.2345T>A (p.Leu782His) rs8069344 0.20071
NM_000350.3(ABCA4):c.5836-43C>A rs2275031 0.19847
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=) rs2275029 0.19626
NM_000180.4(GUCY2D):c.2576+37G>T rs12103471 0.12387
NM_001034853.2(RPGR):c.1164G>A (p.Ala388=) rs1801686 0.11812
NM_006017.3(PROM1):c.1003-35A>C rs2286458 0.09908
NM_022367.4(SEMA4A):c.*37T>C rs41265023 0.05725
NM_001256789.3(CACNA1F):c.2673+3G>A rs41312124 0.04106
NM_000328.3(RPGR):c.2149+46C>T rs41312110 0.03703
NM_022367.4(SEMA4A):c.2138G>A (p.Arg713Gln) rs41265017 0.03176
NM_172364.5(CACNA2D4):c.2793-15G>A rs147575839 0.02191
NM_172364.5(CACNA2D4):c.2746G>A (p.Asp916Asn) rs62621429 0.02126
NM_022367.4(SEMA4A):c.2044C>T (p.Pro682Ser) rs76381440 0.01066
NM_022367.4(SEMA4A):c.1434+12C>A rs114835695 0.00483
NM_022367.4(SEMA4A):c.2027C>T (p.Ala676Val) rs75447909 0.00399
NM_020366.4(RPGRIP1):c.2878G>C (p.Ala960Pro) rs35810926 0.00369
NM_001256789.3(CACNA1F):c.2334+123G>C rs185254714 0.00356
NM_020366.4(RPGRIP1):c.218+13C>G rs200225522 0.00279
NM_020366.4(RPGRIP1):c.2284C>T (p.Leu762=) rs145896974 0.00240
NM_020366.4(RPGRIP1):c.2376G>A (p.Ser792=) rs185667326 0.00183
NM_001256789.3(CACNA1F):c.3439-18C>T rs199764042 0.00179
NM_022367.4(SEMA4A):c.1529G>A (p.Arg510Gln) rs2075164 0.00170
NM_020366.4(RPGRIP1):c.1753C>T (p.Pro585Ser) rs147586703 0.00155
NM_020366.4(RPGRIP1):c.95T>A (p.Met32Lys) rs200510462 0.00140
NM_020366.4(RPGRIP1):c.542C>G (p.Ala181Gly) rs186266220 0.00127
NM_022367.4(SEMA4A):c.1670G>A (p.Arg557Gln) rs137997761 0.00088
NM_020366.4(RPGRIP1):c.808A>G (p.Ile270Val) rs372615343 0.00084
NM_020366.4(RPGRIP1):c.2644C>T (p.Pro882Ser) rs200657688 0.00077
NM_020366.4(RPGRIP1):c.2555G>A (p.Arg852Gln) rs181758389 0.00076
NM_020366.4(RPGRIP1):c.74C>T (p.Pro25Leu) rs199590641 0.00073
NM_022367.4(SEMA4A):c.1451G>C (p.Gly484Ala) rs148744804 0.00062
NM_020366.4(RPGRIP1):c.3171C>T (p.His1057=) rs201838837 0.00053
NM_020366.4(RPGRIP1):c.2550G>A (p.Gln850=) rs200268506 0.00051
NM_020366.4(RPGRIP1):c.3358A>G (p.Ile1120Val) rs137853911 0.00051
NM_020366.4(RPGRIP1):c.1078-9C>A rs371312060 0.00042
NM_022367.4(SEMA4A):c.2167C>T (p.Arg723Cys) rs199933282 0.00032
NM_020366.4(RPGRIP1):c.2665G>A (p.Ala889Thr) rs184926375 0.00031
NM_020366.4(RPGRIP1):c.376G>C (p.Gly126Arg) rs375226924 0.00030
NM_020366.4(RPGRIP1):c.1920C>T (p.Ala640=) rs368434311 0.00029
NM_020366.4(RPGRIP1):c.2435G>A (p.Arg812Gln) rs190490019 0.00024
NM_020366.4(RPGRIP1):c.2075A>G (p.His692Arg) rs200401966 0.00023
NM_020366.4(RPGRIP1):c.3505G>C (p.Glu1169Gln) rs201191634 0.00021
NM_022367.4(SEMA4A):c.426C>T (p.Cys142=) rs371685429 0.00019
NM_020366.4(RPGRIP1):c.161G>A (p.Arg54His) rs376250340 0.00016
NM_020366.4(RPGRIP1):c.1236G>A (p.Gln412=) rs140904308 0.00014
NM_020366.4(RPGRIP1):c.968T>C (p.Leu323Pro) rs199982906 0.00014
NM_020366.4(RPGRIP1):c.1904C>G (p.Ala635Gly) rs200325360 0.00012
NM_020366.4(RPGRIP1):c.2063C>T (p.Ser688Leu) rs543867152 0.00011
NM_020366.4(RPGRIP1):c.491-3T>C rs749376395 0.00011
NM_020366.4(RPGRIP1):c.658A>G (p.Met220Val) rs371762530 0.00011
NM_020366.4(RPGRIP1):c.2334T>C (p.Asp778=) rs188318743 0.00010
NM_020366.4(RPGRIP1):c.2510C>G (p.Ala837Gly) rs373515194 0.00008
NM_022367.4(SEMA4A):c.1991C>T (p.Pro664Leu) rs200251591 0.00007
NM_022367.4(SEMA4A):c.494C>T (p.Ser165Leu) rs201943133 0.00007
NM_000329.3(RPE65):c.1238G>A (p.Arg413His) rs200950327 0.00006
NM_020366.4(RPGRIP1):c.3064C>T (p.Leu1022Phe) rs367899074 0.00006
NM_020366.4(RPGRIP1):c.3221C>G (p.Pro1074Arg) rs372226099 0.00006
NM_020366.4(RPGRIP1):c.50T>C (p.Ile17Thr) rs201384449 0.00006
NM_022367.4(SEMA4A):c.1265C>T (p.Thr422Ile) rs145228550 0.00006
NM_022367.4(SEMA4A):c.2251G>A (p.Ala751Thr) rs747089050 0.00006
NM_022367.4(SEMA4A):c.1028T>C (p.Leu343Pro) rs368854370 0.00005
NM_022367.4(SEMA4A):c.86C>T (p.Thr29Met) rs1045906206 0.00005
NM_020366.4(RPGRIP1):c.116G>A (p.Ser39Asn) rs376435824 0.00004
NM_020366.4(RPGRIP1):c.154C>T (p.Arg52Ter) rs192003551 0.00004
NM_020366.4(RPGRIP1):c.2302C>T (p.Arg768Ter) rs75459701 0.00004
NM_020366.4(RPGRIP1):c.2663G>A (p.Arg888Gln) rs559905596 0.00004
NM_020366.4(RPGRIP1):c.3377C>T (p.Ala1126Val) rs760334377 0.00004
NM_020366.4(RPGRIP1):c.3749-2A>G rs376517859 0.00004
NM_022367.4(SEMA4A):c.1123C>T (p.Arg375Trp) rs201094714 0.00004
NM_022367.4(SEMA4A):c.1214C>T (p.Thr405Met) rs776231562 0.00004
NM_022367.4(SEMA4A):c.1481G>A (p.Arg494Gln) rs559896573 0.00004
NM_022367.4(SEMA4A):c.247G>C (p.Ala83Pro) rs746991043 0.00004
NM_022367.4(SEMA4A):c.473A>G (p.Asp158Gly) rs200090107 0.00004
NM_022367.4(SEMA4A):c.944C>T (p.Pro315Leu) rs147148406 0.00004
NM_020366.4(RPGRIP1):c.77C>T (p.Ala26Val) rs187598648 0.00003
NM_020366.4(RPGRIP1):c.787G>T (p.Ala263Ser) rs780673799 0.00003
NM_020366.4(RPGRIP1):c.1059G>C (p.Leu353Phe) rs756365691 0.00002
NM_020366.4(RPGRIP1):c.1401A>G (p.Gln467=) rs184853466 0.00002
NM_020366.4(RPGRIP1):c.1892A>G (p.His631Arg) rs535922252 0.00002
NM_020366.4(RPGRIP1):c.2291C>T (p.Ala764Val) rs758652031 0.00002
NM_020366.4(RPGRIP1):c.2662C>T (p.Arg888Ter) rs1030149008 0.00002
NM_020366.4(RPGRIP1):c.938G>A (p.Gly313Glu) rs755322533 0.00002
NM_022367.4(SEMA4A):c.1987G>A (p.Val663Ile) rs202048433 0.00002
NM_020366.4(RPGRIP1):c.1921G>A (p.Ala641Thr) rs753575515 0.00001
NM_020366.4(RPGRIP1):c.1976A>G (p.Tyr659Cys) rs1278572461 0.00001
NM_020366.4(RPGRIP1):c.2440C>T (p.Arg814Ter) rs759940113 0.00001
NM_020366.4(RPGRIP1):c.2441G>T (p.Arg814Leu) rs372647080 0.00001
NM_020366.4(RPGRIP1):c.2554C>T (p.Arg852Ter) rs1429786931 0.00001
NM_020366.4(RPGRIP1):c.2775G>A (p.Trp925Ter) rs398124354 0.00001
NM_020366.4(RPGRIP1):c.3239-14C>T rs542859849 0.00001
NM_020366.4(RPGRIP1):c.3565C>T (p.Arg1189Ter) rs752175052 0.00001
NM_020366.4(RPGRIP1):c.3814G>A (p.Val1272Ile) rs778860397 0.00001
NM_020366.4(RPGRIP1):c.386A>T (p.His129Leu) rs547876047 0.00001
NM_020366.4(RPGRIP1):c.800+1G>A rs376500610 0.00001
NM_022367.4(SEMA4A):c.1094C>T (p.Thr365Ile) rs768826705 0.00001
NM_022367.4(SEMA4A):c.1174A>C (p.Met392Leu) rs1475557484 0.00001
NM_022367.4(SEMA4A):c.1287C>G (p.His429Gln) rs368904425 0.00001
NM_022367.4(SEMA4A):c.1685C>T (p.Pro562Leu) rs780625142 0.00001
NM_022367.4(SEMA4A):c.2131C>T (p.Arg711Trp) rs762468169 0.00001
NM_022367.4(SEMA4A):c.394G>A (p.Val132Ile) rs374333337 0.00001
NM_022367.4(SEMA4A):c.427G>A (p.Gly143Ser) rs773687726 0.00001
NM_000329.3(RPE65):c.462G>C (p.Lys154Asn) rs2100827532
NM_000350.3(ABCA4):c.1240-65del rs3215952
NM_000350.3(ABCA4):c.4352+54A>G rs547806
NM_000350.3(ABCA4):c.4774-17_4774-16del rs55860151
NM_000350.3(ABCA4):c.6006-16G>A rs4147863
NM_000554.6(CRX):c.570dup (p.Tyr191fs) rs1968168564
NM_001256789.3(CACNA1F):c.2928+5C>T rs2147908085
NM_001256789.3(CACNA1F):c.3037-30G>A rs2065733290
NM_003816.3(ADAM9):c.1130+15_1130+18dup rs10651669
NM_020061.6(OPN1LW):c.511G>A (p.Val171Met) rs5986963
NM_020061.6(OPN1LW):c.513G>T (p.Val171=) rs5986964
NM_020366.4(RPGRIP1):c.1107del (p.Glu370fs) rs61751266
NM_020366.4(RPGRIP1):c.1612-3C>A rs1594204748
NM_020366.4(RPGRIP1):c.2368-2A>G rs1064797182
NM_020366.4(RPGRIP1):c.2465_2468dup (p.Ala824fs) rs745741473
NM_020366.4(RPGRIP1):c.268G>A (p.Val90Ile) rs1057519200
NM_020366.4(RPGRIP1):c.2718dup (p.Asn907Ter) rs776289402
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter) rs780667159
NM_020366.4(RPGRIP1):c.3444C>G (p.Phe1148Leu) rs886050401
NM_020366.4(RPGRIP1):c.3448G>T (p.Asp1150Tyr) rs144704092
NM_020366.4(RPGRIP1):c.3570G>T (p.Arg1190Ser) rs756503753
NM_020366.4(RPGRIP1):c.3571C>T (p.Arg1191Trp) rs188660364
NM_020366.4(RPGRIP1):c.3618-1_3621del rs1594280740
NM_020366.4(RPGRIP1):c.673del (p.His225fs) rs752263228
NM_020366.4(RPGRIP1):c.906+2T>G rs1594180201
NM_022367.4(SEMA4A):c.1196A>T (p.Asp399Val) rs727504147
NM_022367.4(SEMA4A):c.1337C>T (p.Ala446Val) rs886045366
NM_022367.4(SEMA4A):c.1783C>T (p.Pro595Ser) rs1286943189
NM_022367.4(SEMA4A):c.2167C>A (p.Arg723Ser) rs199933282
NM_022367.4(SEMA4A):c.2175_2176dup (p.Glu726fs) rs780625314
NM_022367.4(SEMA4A):c.332G>A (p.Ser111Asn)
NM_022367.4(SEMA4A):c.94G>T (p.Gly32Trp)
NM_172240.3(POC1B):c.453-12_453-3del rs59139895
NM_172364.5(CACNA2D4):c.1879-63C>G rs2370057
NM_172364.5(CACNA2D4):c.2342+96C>A rs7137553
NM_172364.5(CACNA2D4):c.781+55_781+56insAAGAC rs59151112

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