ClinVar Miner

List of variants in gene FLCN reported as pathogenic for Birt-Hogg-Dube syndrome 1

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_144997.7(FLCN):c.490del (p.Arg164fs) rs1414696397 0.00001
NM_144997.7(FLCN):c.1014G>A (p.Trp338Ter)
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.1318_1334dup (p.Leu449fs) rs879255677
NM_144997.7(FLCN):c.1389C>G (p.Tyr463Ter) rs137852929
NM_144997.7(FLCN):c.1395del (p.Phe465fs)
NM_144997.7(FLCN):c.1487_1490dup (p.Asp498fs) rs879255679
NM_144997.7(FLCN):c.1597C>T (p.Gln533Ter) rs398124532
NM_144997.7(FLCN):c.318C>G (p.Tyr106Ter)
NM_144997.7(FLCN):c.33C>A (p.Cys11Ter) rs754616167
NM_144997.7(FLCN):c.340_349del (p.His114fs)
NM_144997.7(FLCN):c.347dup (p.Leu117fs) rs776896550
NM_144997.7(FLCN):c.453del (p.Phe152fs) rs879255660
NM_144997.7(FLCN):c.466TTC[1] (p.Phe157del) rs786203218
NM_144997.7(FLCN):c.49dup (p.Arg17fs) rs758385503
NM_144997.7(FLCN):c.584del (p.Gly195fs) rs878855217
NM_144997.7(FLCN):c.735_738del (p.Ser246fs) rs879255662
NM_144997.7(FLCN):c.779G>A (p.Trp260Ter) rs368778627
NM_144997.7(FLCN):c.853C>T (p.Gln285Ter) rs879255667
NM_144997.7(FLCN):c.946_947del (p.Ser316fs) rs1597591875

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