ClinVar Miner

List of variants reported as likely pathogenic for CEP290-related ciliopathy by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (17):
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ClinVar version:
Total variants: 161
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.4813-2A>G rs369523378 0.00046
NM_025114.4(CEP290):c.4437+1G>A rs760915898 0.00009
NM_153704.6(TMEM67):c.651+5G>A rs970248353 0.00006
NM_025114.4(CEP290):c.7073_7077dup (p.His2360Ter) rs1294402003 0.00004
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180 0.00004
NM_153704.6(TMEM67):c.2848G>A (p.Val950Met) rs771551765 0.00004
NM_025114.4(CEP290):c.5745dup (p.Lys1916Ter) rs751361090 0.00003
NM_153704.6(TMEM67):c.1645C>T (p.Arg549Cys) rs747025617 0.00003
NM_025114.4(CEP290):c.7282_7283dup (p.Tyr2429fs) rs767231715 0.00002
NM_153704.6(TMEM67):c.748G>A (p.Gly250Arg) rs587779736 0.00002
NM_025114.4(CEP290):c.1711+1G>A rs587783009 0.00001
NM_025114.4(CEP290):c.181-2A>G rs886042359 0.00001
NM_025114.4(CEP290):c.297+1G>T rs878853360 0.00001
NM_025114.4(CEP290):c.2T>A (p.Met1Lys) rs368984997 0.00001
NM_025114.4(CEP290):c.3104-5T>G rs1302558061 0.00001
NM_025114.4(CEP290):c.3G>A (p.Met1Ile) rs773525033 0.00001
NM_025114.4(CEP290):c.451C>T (p.Arg151Ter) rs757641323 0.00001
NM_025114.4(CEP290):c.5012+2T>C rs1369768287 0.00001
NM_025114.4(CEP290):c.5587-1G>C rs968692633 0.00001
NM_025114.4(CEP290):c.5941G>T (p.Glu1981Ter) rs767426153 0.00001
NM_025114.4(CEP290):c.6358-1G>A rs766670248 0.00001
NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter) rs1374014119 0.00001
NM_153704.6(TMEM67):c.1318C>T (p.Arg440Trp) rs774746409 0.00001
NM_153704.6(TMEM67):c.1769T>C (p.Phe590Ser) rs267607115 0.00001
NM_153704.6(TMEM67):c.769A>G (p.Met257Val) rs863225227 0.00001
NM_153704.6(TMEM67):c.863C>A (p.Ser288Ter) rs769957689 0.00001
NM_025114.4(CEP290):c.102+2T>G rs763226787
NM_025114.4(CEP290):c.1042del (p.Ser348fs)
NM_025114.4(CEP290):c.1060C>T (p.Gln354Ter) rs2138021345
NM_025114.4(CEP290):c.1254_1255del (p.Lys419fs) rs897997464
NM_025114.4(CEP290):c.1258dup (p.Thr420fs) rs868650061
NM_025114.4(CEP290):c.1274_1275del (p.Arg425fs)
NM_025114.4(CEP290):c.1359+1G>A rs935130451
NM_025114.4(CEP290):c.1360-1G>C
NM_025114.4(CEP290):c.1451del (p.Lys484fs) rs386834149
NM_025114.4(CEP290):c.1521_1522+2dup
NM_025114.4(CEP290):c.1624-1G>C
NM_025114.4(CEP290):c.1711G>T (p.Gly571Ter)
NM_025114.4(CEP290):c.1750del (p.Ser584fs) rs780954447
NM_025114.4(CEP290):c.175dup (p.Met59fs)
NM_025114.4(CEP290):c.1775del (p.Arg592fs)
NM_025114.4(CEP290):c.1790T>A (p.Leu597Ter)
NM_025114.4(CEP290):c.180+1G>A rs758593134
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter) rs1555220625
NM_025114.4(CEP290):c.2052+1G>A
NM_025114.4(CEP290):c.2139_2148del (p.Glu713fs)
NM_025114.4(CEP290):c.2194C>T (p.Gln732Ter)
NM_025114.4(CEP290):c.223A>G (p.Lys75Glu) rs779010679
NM_025114.4(CEP290):c.2267C>A (p.Ser756Ter)
NM_025114.4(CEP290):c.2268_2284del (p.Asn757_Val758insTer)
NM_025114.4(CEP290):c.2483+1G>A rs2137661795
NM_025114.4(CEP290):c.2594_2595del (p.Leu865fs) rs1221464366
NM_025114.4(CEP290):c.2632del (p.Ile878fs) rs1404507934
NM_025114.4(CEP290):c.2719G>T (p.Glu907Ter)
NM_025114.4(CEP290):c.2737_2741del (p.Lys912_Glu913insTer)
NM_025114.4(CEP290):c.274_280del (p.Met92fs) rs2138258171
NM_025114.4(CEP290):c.2854del (p.Val952fs)
NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter) rs1057518822
NM_025114.4(CEP290):c.2992-1G>T
NM_025114.4(CEP290):c.3085G>T (p.Glu1029Ter) rs2137423759
NM_025114.4(CEP290):c.3085del (p.Glu1029fs)
NM_025114.4(CEP290):c.3200T>A (p.Leu1067Ter)
NM_025114.4(CEP290):c.3240T>A (p.Tyr1080Ter) rs886042467
NM_025114.4(CEP290):c.3240T>G (p.Tyr1080Ter) rs886042467
NM_025114.4(CEP290):c.3285del (p.Phe1095fs) rs1017496924
NM_025114.4(CEP290):c.3290dup (p.Leu1097fs)
NM_025114.4(CEP290):c.3377_3378dup (p.Ser1127Ter)
NM_025114.4(CEP290):c.341del (p.Arg114fs)
NM_025114.4(CEP290):c.3488_3494dup (p.Val1166fs) rs2036977719
NM_025114.4(CEP290):c.3577C>T (p.Gln1193Ter)
NM_025114.4(CEP290):c.3589A>T (p.Lys1197Ter)
NM_025114.4(CEP290):c.369del (p.Gln123fs) rs773622064
NM_025114.4(CEP290):c.3736G>T (p.Glu1246Ter)
NM_025114.4(CEP290):c.3739C>T (p.Gln1247Ter)
NM_025114.4(CEP290):c.3911_3915del (p.Met1304fs)
NM_025114.4(CEP290):c.4092del (p.Glu1364fs)
NM_025114.4(CEP290):c.4195-2del
NM_025114.4(CEP290):c.441+1G>A
NM_025114.4(CEP290):c.442-1G>A
NM_025114.4(CEP290):c.4621del (p.Thr1541fs) rs587779733
NM_025114.4(CEP290):c.4677T>G (p.Tyr1559Ter) rs2137182509
NM_025114.4(CEP290):c.4695del (p.Ala1566fs)
NM_025114.4(CEP290):c.4714_4715del (p.Glu1572fs)
NM_025114.4(CEP290):c.4737del (p.Asp1580fs) rs1304430926
NM_025114.4(CEP290):c.4834_4835del (p.Thr1612fs) rs1207944612
NM_025114.4(CEP290):c.4855dup (p.His1619fs)
NM_025114.4(CEP290):c.4943C>G (p.Ser1648Ter)
NM_025114.4(CEP290):c.4957A>T (p.Arg1653Ter)
NM_025114.4(CEP290):c.4983del (p.Lys1661_Val1662insTer) rs879447211
NM_025114.4(CEP290):c.5073del (p.Lys1691fs)
NM_025114.4(CEP290):c.5125C>T (p.Gln1709Ter)
NM_025114.4(CEP290):c.516+1G>A
NM_025114.4(CEP290):c.5235_5238del (p.Ser1745fs) rs775969711
NM_025114.4(CEP290):c.5364+1G>A
NM_025114.4(CEP290):c.5441_5444del (p.Asn1813_Ser1814insTer)
NM_025114.4(CEP290):c.5482_5483del (p.Lys1828fs)
NM_025114.4(CEP290):c.5586+1G>T rs2035880971
NM_025114.4(CEP290):c.5659C>T (p.Gln1887Ter)
NM_025114.4(CEP290):c.5709+2T>G
NM_025114.4(CEP290):c.5710-2A>G
NM_025114.4(CEP290):c.5735G>A (p.Trp1912Ter)
NM_025114.4(CEP290):c.5754G>A (p.Trp1918Ter)
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter) rs561598805
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro) rs778030031
NM_025114.4(CEP290):c.5788_5792del (p.Lys1930fs) rs2035400071
NM_025114.4(CEP290):c.583_584del (p.Leu195fs) rs1277316340
NM_025114.4(CEP290):c.584del (p.Leu195fs) rs1277316340
NM_025114.4(CEP290):c.5881C>T (p.Gln1961Ter)
NM_025114.4(CEP290):c.5909_5910dup (p.Val1971fs)
NM_025114.4(CEP290):c.6084_6085del (p.Lys2028fs) rs2136911405
NM_025114.4(CEP290):c.6270+1G>A
NM_025114.4(CEP290):c.6271-1G>A rs2034579709
NM_025114.4(CEP290):c.6357+1G>A rs1196938557
NM_025114.4(CEP290):c.6358-2A>C
NM_025114.4(CEP290):c.6397dup (p.Thr2133fs)
NM_025114.4(CEP290):c.6400_6403dup (p.Gly2135fs)
NM_025114.4(CEP290):c.6417del (p.Lys2139_Val2140insTer)
NM_025114.4(CEP290):c.6448_6455del (p.Gln2150fs) rs1364945778
NM_025114.4(CEP290):c.6514A>T (p.Lys2172Ter)
NM_025114.4(CEP290):c.6516del (p.Lys2172fs) rs1057519165
NM_025114.4(CEP290):c.6818_6818+1dup rs1060499781
NM_025114.4(CEP290):c.6960+1G>A
NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer) rs781310385
NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter) rs1478582091
NM_025114.4(CEP290):c.7220_7223del (p.Lys2407fs) rs763762899
NM_025114.4(CEP290):c.7233dup (p.Glu2412fs) rs2033254449
NM_025114.4(CEP290):c.7256del (p.Ser2419fs)
NM_025114.4(CEP290):c.725del (p.Asn242fs)
NM_025114.4(CEP290):c.7263del (p.Phe2421fs)
NM_025114.4(CEP290):c.7263dup (p.Glu2422Ter) rs1219184437
NM_025114.4(CEP290):c.7283_7286dup (p.Tyr2429Ter) rs773642187
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter) rs45502896
NM_025114.4(CEP290):c.829_833del (p.Glu277fs)
NM_025114.4(CEP290):c.852del (p.Val285fs)
NM_025114.4(CEP290):c.992del (p.Leu331fs)
NM_153704.6(TMEM67):c.1038G>T (p.Trp346Cys) rs754370463
NM_153704.6(TMEM67):c.103C>T (p.Gln35Ter)
NM_153704.6(TMEM67):c.1123C>T (p.Gln375Ter)
NM_153704.6(TMEM67):c.1318C>G (p.Arg440Gly)
NM_153704.6(TMEM67):c.1338_1350del (p.Ala447fs) rs2130690833
NM_153704.6(TMEM67):c.1412+1G>T
NM_153704.6(TMEM67):c.1413-2A>G rs786205608
NM_153704.6(TMEM67):c.1538A>G (p.Tyr513Cys) rs137853107
NM_153704.6(TMEM67):c.1675-1G>A
NM_153704.6(TMEM67):c.1860+1G>A
NM_153704.6(TMEM67):c.1991del (p.Pro664fs)
NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe) rs863225238
NM_153704.6(TMEM67):c.2357G>A (p.Gly786Glu) rs386834193
NM_153704.6(TMEM67):c.2429_2433del (p.Lys810fs)
NM_153704.6(TMEM67):c.2521C>T (p.Gln841Ter)
NM_153704.6(TMEM67):c.2764+2T>G
NM_153704.6(TMEM67):c.312+1G>A
NM_153704.6(TMEM67):c.313-2A>G
NM_153704.6(TMEM67):c.329A>G (p.Asp110Gly)
NM_153704.6(TMEM67):c.370G>A (p.Glu124Lys) rs375824494
NM_153704.6(TMEM67):c.479_480del (p.Phe160fs) rs868404889
NM_153704.6(TMEM67):c.50T>A (p.Leu17Ter) rs1563672487
NM_153704.6(TMEM67):c.538del (p.Thr180fs)
NM_153704.6(TMEM67):c.637C>T (p.Arg213Cys)
NM_153704.6(TMEM67):c.869+1G>C
NM_153704.6(TMEM67):c.978+1G>A rs1563458773

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