ClinVar Miner

List of variants in gene FLCN reported as pathogenic by Ambry Genetics

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Gene type:
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Total variants: 125
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HGVS dbSNP gnomAD frequency
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.490del (p.Arg164fs) rs1414696397 0.00001
NM_144997.7(FLCN):c.779+1G>T rs758175953 0.00001
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.1024_1026delinsGAGCTGGCAGCCCCGGAAT (p.Lys342fs)
NM_144997.7(FLCN):c.1029del (p.Pro344fs)
NM_144997.7(FLCN):c.1038dup (p.Lys347fs)
NM_144997.7(FLCN):c.1062+1G>A rs1131690832
NM_144997.7(FLCN):c.1062+2T>G rs886039370
NM_144997.7(FLCN):c.1063-2A>G rs2144871276
NM_144997.7(FLCN):c.1098_1102dup (p.Val368fs) rs1131690831
NM_144997.7(FLCN):c.1117C>T (p.Gln373Ter) rs398124524
NM_144997.7(FLCN):c.113del (p.Ser38fs) rs878855212
NM_144997.7(FLCN):c.1153C>T (p.Gln385Ter) rs2144869206
NM_144997.7(FLCN):c.1153del (p.Gln385fs) rs1555607960
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.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.1245C>A (p.Cys415Ter) rs748148728
NM_144997.7(FLCN):c.1252del (p.Leu418fs) rs864622651
NM_144997.7(FLCN):c.1252dup (p.Leu418fs)
NM_144997.7(FLCN):c.1261dup (p.Ser421fs)
NM_144997.7(FLCN):c.1277_1279delinsAA (p.Ile426fs)
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.1293_1300+19del
NM_144997.7(FLCN):c.1300+1G>A rs879255676
NM_144997.7(FLCN):c.1300G>C (p.Glu434Gln)
NM_144997.7(FLCN):c.1300G>T (p.Glu434Ter) rs1266098984
NM_144997.7(FLCN):c.1302_1303dup (p.Phe435fs) rs1131690829
NM_144997.7(FLCN):c.1305del (p.Phe435fs) rs398124527
NM_144997.7(FLCN):c.1309del (p.Val437fs)
NM_144997.7(FLCN):c.1312_1313dup (p.Val439fs)
NM_144997.7(FLCN):c.1318_1334dup (p.Leu449fs) rs879255677
NM_144997.7(FLCN):c.1352del (p.Pro451fs) rs1131690828
NM_144997.7(FLCN):c.1357_1363del (p.Gly453fs) rs1131690841
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.1426dup (p.Asp476fs) rs1131690835
NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter) rs879255678
NM_144997.7(FLCN):c.1432+1G>A rs755959303
NM_144997.7(FLCN):c.1433-1G>T
NM_144997.7(FLCN):c.1459G>T (p.Glu487Ter) rs786202475
NM_144997.7(FLCN):c.1474_1475delinsG (p.Asn492fs) rs1597578868
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.1487_1495delinsGGACCAGTGGCAC (p.Ser496fs)
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.1533G>A (p.Trp511Ter) rs398124530
NM_144997.7(FLCN):c.1539-2A>G rs878855214
NM_144997.7(FLCN):c.1584del (p.Glu530fs) rs1131690827
NM_144997.7(FLCN):c.158del (p.Gln53fs) rs1131690825
NM_144997.7(FLCN):c.1597_1598del (p.Gln533fs) rs876660810
NM_144997.7(FLCN):c.1635del (p.Asp545fs)
NM_144997.7(FLCN):c.1658G>A (p.Trp553Ter) rs879255684
NM_144997.7(FLCN):c.17_21del (p.Ala6fs) rs1597618627
NM_144997.7(FLCN):c.189del (p.Ala64fs) rs876660611
NM_144997.7(FLCN):c.199del (p.Ala67fs) rs1555611438
NM_144997.7(FLCN):c.214del (p.Ser72fs) rs1131690824
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.250-1G>A rs786202081
NM_144997.7(FLCN):c.250-2A>G rs398124533
NM_144997.7(FLCN):c.260C>A (p.Ser87Ter)
NM_144997.7(FLCN):c.296del (p.Asp99fs) rs398124534
NM_144997.7(FLCN):c.299_302del (p.Lys100fs)
NM_144997.7(FLCN):c.301G>T (p.Glu101Ter) rs1597613070
NM_144997.7(FLCN):c.312_316dup (p.Tyr106fs)
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.381dup (p.Ser128fs) rs2145010299
NM_144997.7(FLCN):c.3del (p.Met1fs) rs1131690838
NM_144997.7(FLCN):c.412G>T (p.Glu138Ter) rs1597607423
NM_144997.7(FLCN):c.430G>T (p.Gly144Ter)
NM_144997.7(FLCN):c.44dup (p.Arg17fs) rs1131690839
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.503_518delinsATCAG (p.Arg168fs) rs1064792959
NM_144997.7(FLCN):c.557G>A (p.Trp186Ter) rs876658409
NM_144997.7(FLCN):c.57_58del (p.Phe20fs) rs2145049426
NM_144997.7(FLCN):c.584del (p.Gly195fs) rs878855217
NM_144997.7(FLCN):c.59del (p.Phe20fs) rs876658390
NM_144997.7(FLCN):c.603_607del (p.Lys203fs) rs1131690836
NM_144997.7(FLCN):c.617dup (p.Val207fs)
NM_144997.7(FLCN):c.618+1G>A
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.658C>T (p.Gln220Ter)
NM_144997.7(FLCN):c.694C>T (p.Gln232Ter)
NM_144997.7(FLCN):c.708del (p.Asn236fs) rs886039369
NM_144997.7(FLCN):c.752G>A (p.Trp251Ter) rs879255663
NM_144997.7(FLCN):c.754dup (p.Ala252fs)
NM_144997.7(FLCN):c.763C>T (p.His255Tyr) rs879255664
NM_144997.7(FLCN):c.779+1G>C rs758175953
NM_144997.7(FLCN):c.779G>A (p.Trp260Ter) rs368778627
NM_144997.7(FLCN):c.780G>A (p.Trp260Ter) rs1131690826
NM_144997.7(FLCN):c.802del (p.Arg268fs)
NM_144997.7(FLCN):c.838G>T (p.Glu280Ter) rs1060502367
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.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.919G>T (p.Glu307Ter) rs932256543
NM_144997.7(FLCN):c.927_954dup (p.Gly319fs) rs398124542
NM_144997.7(FLCN):c.938del (p.Leu313fs)
NM_144997.7(FLCN):c.943G>T (p.Glu315Ter) rs587781952
NM_144997.7(FLCN):c.970C>T (p.Gln324Ter) rs2144896021

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