ClinVar Miner

List of variants in gene FLCN reported as pathogenic by OMIM

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545 0.00217
NM_144997.5(FLCN):c.[1301-7_1304delGTTACAGAGTT;1323delCinsGA]
NM_144997.7(FLCN):c.(871+1_872-1)_(*1_?)del
NM_144997.7(FLCN):c.1063-151_1300+413dup
NM_144997.7(FLCN):c.1156_1175del (p.Ser386fs) rs886037610
NM_144997.7(FLCN):c.1277_1278delinsA (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.1389C>G (p.Tyr463Ter) rs137852929
NM_144997.7(FLCN):c.1533_1536del (p.Glu510_Trp511insTer) rs886037608
NM_144997.7(FLCN):c.235_238del (p.Ser79fs) rs750146811
NM_144997.7(FLCN):c.236C>G (p.Ser79Trp) rs137852930
NM_144997.7(FLCN):c.250-2A>G rs398124533
NM_144997.7(FLCN):c.404del (p.Pro135fs) rs886037609
NM_144997.7(FLCN):c.466TTC[1] (p.Phe157del) rs786203218
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.927_954dup (p.Gly319fs) rs398124542

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