ClinVar Miner

List of variants in gene FLCN reported as pathogenic by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_144997.7(FLCN):c.779+1G>T rs758175953 0.00001
NM_144997.7(FLCN):c.1177-5_1177-3del rs767671406
NM_144997.7(FLCN):c.1188del (p.Val397fs) rs1567809782
NM_144997.7(FLCN):c.1285del (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1285dup (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1301-2A>G rs1555607296
NM_144997.7(FLCN):c.1318_1334dup (p.Leu449fs) rs879255677
NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter) rs879255678
NM_144997.7(FLCN):c.1432+1G>A rs755959303
NM_144997.7(FLCN):c.1532G>A (p.Trp511Ter) rs879255682
NM_144997.7(FLCN):c.189del (p.Ala64fs) rs876660611
NM_144997.7(FLCN):c.235_238del (p.Ser79fs) rs750146811
NM_144997.7(FLCN):c.296del (p.Asp99fs) rs398124534
NM_144997.7(FLCN):c.507G>A (p.Trp169Ter) rs1555610290
NM_144997.7(FLCN):c.890_893del (p.Glu297fs) rs398124541
NM_144997.7(FLCN):c.89del (p.Pro30fs)

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