ClinVar Miner

List of variants in gene FLCN reported as pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 101
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HGVS dbSNP gnomAD frequency
NM_144997.7(FLCN):c.1433-2A>G rs398124528 0.00001
NM_144997.7(FLCN):c.1522_1524del (p.Lys508del) rs398124529 0.00001
NM_144997.7(FLCN):c.1579C>T (p.Arg527Ter) rs879255683 0.00001
NM_144997.7(FLCN):c.1579_1580insA (p.Arg527fs) rs753009073 0.00001
NM_144997.7(FLCN):c.764A>C (p.His255Pro) rs879255665 0.00001
NM_144997.7(FLCN):c.779+1G>T rs758175953 0.00001
NM_144997.7(FLCN):c.1015C>T (p.Gln339Ter) rs2144894376
NM_144997.7(FLCN):c.1021del (p.Arg341fs) rs1060502368
NM_144997.7(FLCN):c.1060C>T (p.Gln354Ter) rs398124523
NM_144997.7(FLCN):c.1062+2T>C rs886039370
NM_144997.7(FLCN):c.1062+2T>G rs886039370
NM_144997.7(FLCN):c.1097G>A (p.Trp366Ter) rs2144870598
NM_144997.7(FLCN):c.1098G>A (p.Trp366Ter) rs879255672
NM_144997.7(FLCN):c.1117C>T (p.Gln373Ter) rs398124524
NM_144997.7(FLCN):c.113del (p.Ser38fs) rs878855212
NM_144997.7(FLCN):c.1176+1G>C rs1555607929
NM_144997.7(FLCN):c.1177-2A>G rs1057520528
NM_144997.7(FLCN):c.1177-5_1177-3del rs767671406
NM_144997.7(FLCN):c.1179del (p.Met394fs) rs398124525
NM_144997.7(FLCN):c.1203dup (p.Ile402fs) rs398124526
NM_144997.7(FLCN):c.1219del (p.Ser407fs) rs878855213
NM_144997.7(FLCN):c.1227C>A (p.Tyr409Ter) rs561236067
NM_144997.7(FLCN):c.1227C>G (p.Tyr409Ter) rs561236067
NM_144997.7(FLCN):c.1252del (p.Leu418fs) rs864622651
NM_144997.7(FLCN):c.1285_1286insG (p.His429fs) rs1555607651
NM_144997.7(FLCN):c.1285del (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1285dup (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1286_1287dup (p.Val430fs) rs1555607640
NM_144997.7(FLCN):c.1286dup (p.His429fs) rs879255675
NM_144997.7(FLCN):c.1300+2T>G rs1064793766
NM_144997.7(FLCN):c.1300G>T (p.Glu434Ter) rs1266098984
NM_144997.7(FLCN):c.1301_1302del rs1567808098
NM_144997.7(FLCN):c.1305del (p.Phe435fs) rs398124527
NM_144997.7(FLCN):c.1318_1334dup (p.Leu449fs) rs879255677
NM_144997.7(FLCN):c.1329_1332dup (p.Ala445fs) rs1085307771
NM_144997.7(FLCN):c.1337_1343dup (p.Leu449fs) rs2144839279
NM_144997.7(FLCN):c.1367_1398del (p.Asp456fs)
NM_144997.7(FLCN):c.1379_1380del (p.Leu460fs) rs1064793128
NM_144997.7(FLCN):c.1389C>G (p.Tyr463Ter) rs137852929
NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter) rs879255678
NM_144997.7(FLCN):c.1432+1G>A rs755959303
NM_144997.7(FLCN):c.1504C>T (p.Gln502Ter) rs886042033
NM_144997.7(FLCN):c.1525GAG[1] (p.Glu510del) rs879255681
NM_144997.7(FLCN):c.1532G>A (p.Trp511Ter) rs879255682
NM_144997.7(FLCN):c.1533G>A (p.Trp511Ter) rs398124530
NM_144997.7(FLCN):c.1540A>T (p.Lys514Ter) rs886041478
NM_144997.7(FLCN):c.158del (p.Gln53fs) rs1131690825
NM_144997.7(FLCN):c.1597C>T (p.Gln533Ter) rs398124532
NM_144997.7(FLCN):c.1601del (p.Lys534fs) rs886039371
NM_144997.7(FLCN):c.1607_1622del (p.Leu536fs) rs1597574088
NM_144997.7(FLCN):c.1637del (p.Asn546fs)
NM_144997.7(FLCN):c.171dup (p.Met58fs) rs886041203
NM_144997.7(FLCN):c.189del (p.Ala64fs) rs876660611
NM_144997.7(FLCN):c.199dup (p.Ala67fs)
NM_144997.7(FLCN):c.233del (p.Lys78fs) rs1555611377
NM_144997.7(FLCN):c.235_238del (p.Ser79fs) rs750146811
NM_144997.7(FLCN):c.241_242del (p.Met81fs) rs1057518147
NM_144997.7(FLCN):c.250-1G>A rs786202081
NM_144997.7(FLCN):c.250-2A>G rs398124533
NM_144997.7(FLCN):c.252del (p.Cys85fs)
NM_144997.7(FLCN):c.259_280del (p.Ser87fs)
NM_144997.7(FLCN):c.296del (p.Asp99fs) rs398124534
NM_144997.7(FLCN):c.319_320delinsCAC (p.Val107fs) rs398124535
NM_144997.7(FLCN):c.33C>A (p.Cys11Ter) rs754616167
NM_144997.7(FLCN):c.346C>T (p.Gln116Ter) rs398124536
NM_144997.7(FLCN):c.347dup (p.Leu117fs) rs776896550
NM_144997.7(FLCN):c.453del (p.Phe152fs) rs879255660
NM_144997.7(FLCN):c.466TTC[1] (p.Phe157del) rs786203218
NM_144997.7(FLCN):c.499C>T (p.Gln167Ter) rs587782069
NM_144997.7(FLCN):c.49del (p.Arg17fs) rs758385503
NM_144997.7(FLCN):c.49dup (p.Arg17fs) rs758385503
NM_144997.7(FLCN):c.521_527del (p.Thr174fs) rs1085307478
NM_144997.7(FLCN):c.557G>A (p.Trp186Ter) rs876658409
NM_144997.7(FLCN):c.563del (p.Phe188fs) rs1597606551
NM_144997.7(FLCN):c.57_58del (p.Phe20fs) rs2145049426
NM_144997.7(FLCN):c.583G>T (p.Gly195Ter) rs1567819544
NM_144997.7(FLCN):c.584del (p.Gly195fs) rs878855217
NM_144997.7(FLCN):c.59del (p.Phe20fs) rs876658390
NM_144997.7(FLCN):c.601C>T (p.Gln201Ter)
NM_144997.7(FLCN):c.610G>T (p.Ala204Ser) rs1456509027
NM_144997.7(FLCN):c.610_611delinsTA (p.Ala204Ter) rs398124538
NM_144997.7(FLCN):c.619-1G>A rs1131690840
NM_144997.7(FLCN):c.624dup (p.Glu209Ter) rs2144952338
NM_144997.7(FLCN):c.632_633delinsC (p.Glu211fs) rs879255661
NM_144997.7(FLCN):c.649C>T (p.Gln217Ter) rs1555609899
NM_144997.7(FLCN):c.708del (p.Asn236fs) rs886039369
NM_144997.7(FLCN):c.763C>T (p.His255Tyr) rs879255664
NM_144997.7(FLCN):c.780-1G>T rs878855218
NM_144997.7(FLCN):c.780-2A>G rs1555609514
NM_144997.7(FLCN):c.828_829dup (p.Ala277fs) rs398124539
NM_144997.7(FLCN):c.83dup (p.Leu29fs) rs398124540
NM_144997.7(FLCN):c.853C>T (p.Gln285Ter) rs879255667
NM_144997.7(FLCN):c.875T>G (p.Leu292Ter) rs879255668
NM_144997.7(FLCN):c.889_890del (p.Glu297fs) rs1597592246
NM_144997.7(FLCN):c.890_893del (p.Glu297fs) rs398124541
NM_144997.7(FLCN):c.89del (p.Pro30fs)
NM_144997.7(FLCN):c.927_954dup (p.Gly319fs) rs398124542
NM_144997.7(FLCN):c.927dup (p.Ala310fs) rs879255669
NM_144997.7(FLCN):c.932_933del (p.Pro311fs) rs1555608614
NM_144997.7(FLCN):c.933del (p.Val312fs) rs886041041
NM_144997.7(FLCN):c.943G>T (p.Glu315Ter) rs587781952

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