ClinVar Miner

List of variants in gene FLCN reported as pathogenic for Multiple fibrofolliculomas

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Total variants: 97
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HGVS dbSNP
FLCN, 2-BP DEL/2-BP INS, NT610
NC_000017.10:g.(?_17116047)_(17118400_?)del
NC_000017.10:g.(?_17116959)_(17117180_?)del
NC_000017.10:g.(?_17116959)_(17140502_?)del
NC_000017.10:g.(?_17124845)_(17131457_?)del
NC_000017.10:g.(?_17140226)_(17140502_?)del
NM_144997.5(FLCN):c.[1301-7_1304delGTTACAGAGTT;1323delCinsGA]
NM_144997.7(FLCN):c.1021del (p.Arg341fs) rs1060502368
NM_144997.7(FLCN):c.1036_1043del (p.Phe346fs) rs879255670
NM_144997.7(FLCN):c.1062+2T>G rs886039370
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.1124_1139del (p.Ile375fs) rs879255673
NM_144997.7(FLCN):c.113del (p.Ser38fs) rs878855212
NM_144997.7(FLCN):c.1177-169_1538del
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.1213dup (p.Tyr405fs) rs1131690837
NM_144997.7(FLCN):c.1219del (p.Ser407fs) rs878855213
NM_144997.7(FLCN):c.121C>T (p.Gln41Ter) rs1254608489
NM_144997.7(FLCN):c.1252del (p.Leu418fs) rs864622651
NM_144997.7(FLCN):c.1285del (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1285dup (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1286dup (p.His429fs) rs879255675
NM_144997.7(FLCN):c.1300+1G>A rs879255676
NM_144997.7(FLCN):c.1300G>T (p.Glu434Ter) rs1266098984
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.1326del (p.His442fs)
NM_144997.7(FLCN):c.1358_1374del (p.Gly453fs) rs1555607179
NM_144997.7(FLCN):c.1359del (p.Cys454fs) rs1555607212
NM_144997.7(FLCN):c.1375_1376TC[2] (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.1429C>T (p.Arg477Ter) rs879255678
NM_144997.7(FLCN):c.1432+1G>A rs755959303
NM_144997.7(FLCN):c.1440del (p.Thr481fs)
NM_144997.7(FLCN):c.1451_1458dup (p.Glu487fs) rs757197845
NM_144997.7(FLCN):c.1451del (p.Asn484fs) rs1567807238
NM_144997.7(FLCN):c.1483_1486CTGT[3] (p.Asp498fs) rs879255679
NM_144997.7(FLCN):c.1522_1524del (p.Lys508del) rs398124529
NM_144997.7(FLCN):c.1528del (p.Glu510fs) rs879255680
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.1579C>T (p.Arg527Ter) rs879255683
NM_144997.7(FLCN):c.1579_1580insA (p.Arg527fs) rs753009073
NM_144997.7(FLCN):c.167del (p.Ser56fs)
NM_144997.7(FLCN):c.189del (p.Ala64fs) rs876660611
NM_144997.7(FLCN):c.202del (p.Ser68fs) rs1060502370
NM_144997.7(FLCN):c.235_238del (p.Ser79fs) rs750146811
NM_144997.7(FLCN):c.237_240dup (p.Met81fs)
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.296del (p.Asp99fs) rs398124534
NM_144997.7(FLCN):c.312del (p.Lys105fs)
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.365_372del (p.Arg122fs) rs1567822638
NM_144997.7(FLCN):c.3G>C (p.Met1Ile) rs879255658
NM_144997.7(FLCN):c.433del (p.Asp145fs) rs1135401752
NM_144997.7(FLCN):c.453del (p.Phe152fs) rs879255660
NM_144997.7(FLCN):c.466_468TTC[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.510C>A (p.Tyr170Ter) rs1567819834
NM_144997.7(FLCN):c.557G>A (p.Trp186Ter) rs876658409
NM_144997.7(FLCN):c.563del (p.Phe188fs)
NM_144997.7(FLCN):c.584del (p.Gly195fs) rs878855217
NM_144997.7(FLCN):c.59del (p.Phe20fs) rs876658390
NM_144997.7(FLCN):c.610_611delinsTA (p.Ala204Ter) rs398124538
NM_144997.7(FLCN):c.619-1G>A rs1131690840
NM_144997.7(FLCN):c.632_633delinsC (p.Glu211fs) rs879255661
NM_144997.7(FLCN):c.634C>T (p.Gln212Ter) rs558699420
NM_144997.7(FLCN):c.735_738del (p.Ser246fs) rs879255662
NM_144997.7(FLCN):c.752G>A (p.Trp251Ter) rs879255663
NM_144997.7(FLCN):c.779+1G>T rs758175953
NM_144997.7(FLCN):c.779G>A (p.Trp260Ter) rs368778627
NM_144997.7(FLCN):c.804del (p.Arg268_Leu269insTer) rs1567816285
NM_144997.7(FLCN):c.828delinsAGA (p.Ala277fs) rs878855220
NM_144997.7(FLCN):c.851del (p.Val284fs) rs879255666
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)
NM_144997.7(FLCN):c.890_893del (p.Glu297fs) rs398124541
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.942_943AG[2] (p.Ser316fs)
NM_144997.7(FLCN):c.979dup (p.Ala327fs) rs1555608552
NM_144997.7(FLCN):c.987del (p.Ser330fs) rs878855221
NM_144997.7(FLCN):c.991_992TC[3] (p.Ser333fs) rs1555608515

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