ClinVar Miner

List of variants in gene FLCN reported as pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 214
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HGVS dbSNP gnomAD frequency
NM_144997.7(FLCN):c.1432+1G>C rs755959303 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.367C>T (p.Gln123Ter) rs2047242821 0.00001
NM_144997.7(FLCN):c.490del (p.Arg164fs) rs1414696397 0.00001
NM_144997.7(FLCN):c.779+1G>T rs758175953 0.00001
NC_000017.10:g.(?_17116047)_(17118400_?)del
NC_000017.10:g.(?_17116310)_(17117959_?)del
NC_000017.10:g.(?_17116969)_(17117180_?)del
NC_000017.10:g.(?_17116969)_(17119827_?)del
NC_000017.10:g.(?_17116969)_(17120506_?)del
NC_000017.10:g.(?_17116969)_(17140502_?)del
NC_000017.10:g.(?_17119684)_(17140502_?)del
NC_000017.10:g.(?_17122323)_(17136215_?)del
NC_000017.10:g.(?_17124841)_(17125985_?)del
NC_000017.10:g.(?_17125805)_(17125985_?)del
NC_000017.10:g.(?_17127226)_(17127467_?)del
NC_000017.10:g.(?_17127226)_(17140502_?)del
NC_000017.10:g.(?_17131193)_(17131475_?)del
NC_000017.10:g.(?_17131193)_(17140502_?)del
NC_000017.10:g.(?_17135706)_(17147081_?)del
NC_000017.11:g.(?_17213645)_(17213866_?)del
NC_000017.11:g.(?_17213645)_(17237188_?)del
NC_000017.11:g.(?_17214975)_(17215326_?)del
NC_000017.11:g.(?_17216370)_(17228161_?)del
NC_000017.11:g.(?_17221527)_(17224153_?)del
NC_000017.11:g.(?_17221531)_(17228143_?)del
NC_000017.11:g.(?_17236912)_(17237188_?)del
NM_144997.7(FLCN):c.1013G>A (p.Trp338Ter)
NM_144997.7(FLCN):c.1014del (p.Trp338fs) rs1131690830
NM_144997.7(FLCN):c.1015C>T (p.Gln339Ter) rs2144894376
NM_144997.7(FLCN):c.1021del (p.Arg341fs) rs1060502368
NM_144997.7(FLCN):c.1036_1043del (p.Phe346fs) rs879255670
NM_144997.7(FLCN):c.1054_1055del (p.Met352fs) rs2047006361
NM_144997.7(FLCN):c.1062+1G>A rs1131690832
NM_144997.7(FLCN):c.1062+2T>G rs886039370
NM_144997.7(FLCN):c.107_108dup (p.Asp37fs)
NM_144997.7(FLCN):c.1117C>T (p.Gln373Ter) rs398124524
NM_144997.7(FLCN):c.1124_1139del (p.Ile375fs) rs879255673
NM_144997.7(FLCN):c.1127G>A (p.Trp376Ter) rs2144869904
NM_144997.7(FLCN):c.1128G>A (p.Trp376Ter) rs2046950183
NM_144997.7(FLCN):c.113del (p.Ser38fs) rs878855212
NM_144997.7(FLCN):c.1141del (p.Val381fs) rs2144869487
NM_144997.7(FLCN):c.1153C>T (p.Gln385Ter) rs2144869206
NM_144997.7(FLCN):c.1176G>C (p.Arg392=) rs2046948026
NM_144997.7(FLCN):c.1177-169_1538del
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.1188del (p.Val397fs) rs1567809782
NM_144997.7(FLCN):c.1203dup (p.Ile402fs) rs398124526
NM_144997.7(FLCN):c.1213dup (p.Tyr405fs) rs1131690837
NM_144997.7(FLCN):c.1215C>G (p.Tyr405Ter) rs786202541
NM_144997.7(FLCN):c.1219del (p.Ser407fs) rs878855213
NM_144997.7(FLCN):c.121C>T (p.Gln41Ter) rs1254608489
NM_144997.7(FLCN):c.1222C>T (p.Gln408Ter) rs2144858986
NM_144997.7(FLCN):c.1227C>A (p.Tyr409Ter) rs561236067
NM_144997.7(FLCN):c.1232_1233dup (p.Ala412fs)
NM_144997.7(FLCN):c.1252del (p.Leu418fs) rs864622651
NM_144997.7(FLCN):c.1265del (p.Pro422fs) rs2144857383
NM_144997.7(FLCN):c.127G>T (p.Glu43Ter) rs1555611494
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.1294_1298del (p.Ser432fs)
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.1318del (p.Glu440fs) rs1555607273
NM_144997.7(FLCN):c.1321_1322del (p.Val441fs)
NM_144997.7(FLCN):c.1321del (p.Val441fs) rs2144840088
NM_144997.7(FLCN):c.1323delinsGA (p.His442fs) rs878854341
NM_144997.7(FLCN):c.1326del (p.His442fs) rs1597580340
NM_144997.7(FLCN):c.1333_1352del (p.Ala445fs) rs2144839089
NM_144997.7(FLCN):c.1347_1353dup (p.Val452fs) rs2046880504
NM_144997.7(FLCN):c.1357_1363del (p.Gly453fs) rs1131690841
NM_144997.7(FLCN):c.1358_1374del (p.Gly453fs) rs1555607179
NM_144997.7(FLCN):c.1359del (p.Cys454fs) rs1555607212
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>A (p.Tyr463Ter) rs137852929
NM_144997.7(FLCN):c.1389C>G (p.Tyr463Ter) rs137852929
NM_144997.7(FLCN):c.1392dup (p.Phe465fs)
NM_144997.7(FLCN):c.1395del (p.Phe465fs)
NM_144997.7(FLCN):c.1397del (p.Val466fs) rs2046877798
NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter) rs879255678
NM_144997.7(FLCN):c.1432+1G>A rs755959303
NM_144997.7(FLCN):c.1432+2T>C rs1567807517
NM_144997.7(FLCN):c.1436dup (p.Thr481fs)
NM_144997.7(FLCN):c.1440del (p.Thr481fs) rs1597579055
NM_144997.7(FLCN):c.1451_1458dup (p.Glu487fs) rs757197845
NM_144997.7(FLCN):c.1451del (p.Asn484fs) rs1567807238
NM_144997.7(FLCN):c.1477C>T (p.Gln493Ter) rs2144832772
NM_144997.7(FLCN):c.1487_1490dup (p.Asp498fs) rs879255679
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.1533_1536del (p.Glu510_Trp511insTer) rs886037608
NM_144997.7(FLCN):c.1538+1G>A rs2046866025
NM_144997.7(FLCN):c.1578_1599del (p.Ser526fs) rs1057518043
NM_144997.7(FLCN):c.1584del (p.Glu530fs) rs1131690827
NM_144997.7(FLCN):c.158del (p.Gln53fs) rs1131690825
NM_144997.7(FLCN):c.1597C>T (p.Gln533Ter) rs398124532
NM_144997.7(FLCN):c.1597_1598del (p.Gln533fs) rs876660810
NM_144997.7(FLCN):c.1599_1600del (p.Lys534fs)
NM_144997.7(FLCN):c.1599_1600dup (p.Lys534fs) rs1439151268
NM_144997.7(FLCN):c.1607_1622del (p.Leu536fs) rs1597574088
NM_144997.7(FLCN):c.1615dup (p.Leu539fs)
NM_144997.7(FLCN):c.1616dup (p.Ala541fs) rs2144810362
NM_144997.7(FLCN):c.1619dup (p.Ala541fs) rs2144810189
NM_144997.7(FLCN):c.1657T>C (p.Trp553Arg) rs1131690833
NM_144997.7(FLCN):c.1658G>A (p.Trp553Ter) rs879255684
NM_144997.7(FLCN):c.167del (p.Ser56fs) rs1597617757
NM_144997.7(FLCN):c.171dup (p.Met58fs) rs886041203
NM_144997.7(FLCN):c.189del (p.Ala64fs) rs876660611
NM_144997.7(FLCN):c.194_195del (p.Glu65fs)
NM_144997.7(FLCN):c.199del (p.Ala67fs) rs1555611438
NM_144997.7(FLCN):c.1A>G (p.Met1Val) rs2047316806
NM_144997.7(FLCN):c.202del (p.Ser68fs) rs1060502370
NM_144997.7(FLCN):c.228del (p.Lys78fs) rs2047302808
NM_144997.7(FLCN):c.233del (p.Lys78fs) rs1555611377
NM_144997.7(FLCN):c.235_238del (p.Ser79fs) rs750146811
NM_144997.7(FLCN):c.237_240dup (p.Met81fs) rs1597617148
NM_144997.7(FLCN):c.239del (p.Asp80fs) rs1060502371
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.273del (p.His92fs) rs2047248214
NM_144997.7(FLCN):c.296del (p.Asp99fs) rs398124534
NM_144997.7(FLCN):c.2T>C (p.Met1Thr)
NM_144997.7(FLCN):c.30del (p.Cys11fs) rs2145050572
NM_144997.7(FLCN):c.312del (p.Lys105fs) rs1597612985
NM_144997.7(FLCN):c.319_320del (p.Val107fs) rs2145012275
NM_144997.7(FLCN):c.319_320delinsCAC (p.Val107fs) rs398124535
NM_144997.7(FLCN):c.321dup (p.Ser108fs) rs2145012125
NM_144997.7(FLCN):c.33C>A (p.Cys11Ter) rs754616167
NM_144997.7(FLCN):c.33C>G (p.Cys11Trp) 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.35del (p.Glu12fs)
NM_144997.7(FLCN):c.365_372del (p.Arg122fs) rs1567822638
NM_144997.7(FLCN):c.381dup (p.Ser128fs) rs2145010299
NM_144997.7(FLCN):c.397-1G>T rs2144983515
NM_144997.7(FLCN):c.3G>C (p.Met1Ile) rs879255658
NM_144997.7(FLCN):c.420dup (p.Ile141fs) rs2047181267
NM_144997.7(FLCN):c.436G>T (p.Glu146Ter)
NM_144997.7(FLCN):c.453del (p.Phe152fs) rs879255660
NM_144997.7(FLCN):c.464_475del (p.Thr155_Ile158del) rs2047178513
NM_144997.7(FLCN):c.466TTC[1] (p.Phe157del) rs786203218
NM_144997.7(FLCN):c.476_479dup (p.Asp160fs) rs2144979340
NM_144997.7(FLCN):c.499C>T (p.Gln167Ter) rs587782069
NM_144997.7(FLCN):c.503_518delinsATCAG (p.Arg168fs) rs1064792959
NM_144997.7(FLCN):c.510C>A (p.Tyr170Ter) rs1567819834
NM_144997.7(FLCN):c.518del (p.Ile173fs)
NM_144997.7(FLCN):c.521_527del (p.Thr174fs) rs1085307478
NM_144997.7(FLCN):c.523_535del (p.Ile175fs) rs2047175695
NM_144997.7(FLCN):c.557G>A (p.Trp186Ter) rs876658409
NM_144997.7(FLCN):c.558G>A (p.Trp186Ter) rs1185698194
NM_144997.7(FLCN):c.563del (p.Phe188fs) rs1597606551
NM_144997.7(FLCN):c.576_586del (p.Lys192fs) rs2047172274
NM_144997.7(FLCN):c.578del (p.Val193fs)
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.610_611delinsTA (p.Ala204Ter) rs398124538
NM_144997.7(FLCN):c.619-1G>A rs1131690840
NM_144997.7(FLCN):c.634C>T (p.Gln212Ter) rs558699420
NM_144997.7(FLCN):c.649C>T (p.Gln217Ter) rs1555609899
NM_144997.7(FLCN):c.67_79del (p.Glu23fs) rs2145048688
NM_144997.7(FLCN):c.708del (p.Asn236fs) rs886039369
NM_144997.7(FLCN):c.735_738del (p.Ser246fs) rs879255662
NM_144997.7(FLCN):c.739_761delinsCAGCGAG (p.Asp247fs) rs2047123162
NM_144997.7(FLCN):c.755del (p.Ala252fs) rs2144948439
NM_144997.7(FLCN):c.774del (p.Phe258fs) rs2144947980
NM_144997.7(FLCN):c.779+1G>C rs758175953
NM_144997.7(FLCN):c.779G>A (p.Trp260Ter) rs368778627
NM_144997.7(FLCN):c.780-1G>C rs878855218
NM_144997.7(FLCN):c.780-1G>T rs878855218
NM_144997.7(FLCN):c.780-2A>G rs1555609514
NM_144997.7(FLCN):c.780G>A (p.Trp260Ter) rs1131690826
NM_144997.7(FLCN):c.792del (p.Cys265fs) rs1567816339
NM_144997.7(FLCN):c.804del (p.Arg268_Leu269insTer) rs1567816285
NM_144997.7(FLCN):c.808dup (p.Thr270fs) rs2047092163
NM_144997.7(FLCN):c.810del (p.Glu271fs) rs2144933364
NM_144997.7(FLCN):c.826_842del (p.Gly276fs) rs2144931929
NM_144997.7(FLCN):c.827_828insAG (p.Ala277fs) rs2144932834
NM_144997.7(FLCN):c.828_829dup (p.Ala277fs) rs398124539
NM_144997.7(FLCN):c.828delinsAGA (p.Ala277fs) rs878855220
NM_144997.7(FLCN):c.846del (p.Leu283fs)
NM_144997.7(FLCN):c.853C>T (p.Gln285Ter) rs879255667
NM_144997.7(FLCN):c.862A>T (p.Lys288Ter)
NM_144997.7(FLCN):c.875T>G (p.Leu292Ter) rs879255668
NM_144997.7(FLCN):c.887C>G (p.Ser296Ter) rs1490424623
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.896G>A (p.Trp299Ter)
NM_144997.7(FLCN):c.89del (p.Pro30fs)
NM_144997.7(FLCN):c.913del (p.Glu305fs) rs2047014823
NM_144997.7(FLCN):c.919del (p.Glu307fs) rs2144897537
NM_144997.7(FLCN):c.91C>T (p.Gln31Ter) rs1597618162
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.946_947del (p.Ser316fs) rs1597591875
NM_144997.7(FLCN):c.970C>T (p.Gln324Ter) rs2144896021
NM_144997.7(FLCN):c.979dup (p.Ala327fs) rs1555608552
NM_144997.7(FLCN):c.987del (p.Ser330fs) rs878855221
NM_144997.7(FLCN):c.995dup (p.Ser333fs) rs2144895051
NM_144997.7(FLCN):c.997_998del (p.Ser333fs) rs1555608515
Single allele

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