List of variants in gene FLCN reported as pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 71

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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.779+1G>T	rs758175953	0.00001
NM_144997.7(FLCN):c.1021del (p.Arg341fs)	rs1060502368
NM_144997.7(FLCN):c.1062+2T>C	rs886039370
NM_144997.7(FLCN):c.1062+2T>G	rs886039370
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.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.1318_1334dup (p.Leu449fs)	rs879255677
NM_144997.7(FLCN):c.1329_1332dup (p.Ala445fs)	rs1085307771
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.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.171dup (p.Met58fs)	rs886041203
NM_144997.7(FLCN):c.189del (p.Ala64fs)	rs876660611
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.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.347dup (p.Leu117fs)	rs776896550
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.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.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.853C>T (p.Gln285Ter)	rs879255667
NM_144997.7(FLCN):c.875T>G (p.Leu292Ter)	rs879255668
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

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