ClinVar Miner

List of variants in gene FLCN reported as likely pathogenic by GeneDx

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_144997.7(FLCN):c.249+5G>A rs1064793127 0.00001
NM_144997.7(FLCN):c.1245C>A (p.Cys415Ter) rs748148728
NM_144997.7(FLCN):c.127G>T (p.Glu43Ter) rs1555611494
NM_144997.7(FLCN):c.1539-2A>G rs878855214
NM_144997.7(FLCN):c.1578_1599del (p.Ser526fs) rs1057518043
NM_144997.7(FLCN):c.1584del (p.Glu530fs) rs1131690827
NM_144997.7(FLCN):c.1657T>C (p.Trp553Arg) rs1131690833
NM_144997.7(FLCN):c.470TCA[1] (p.Ile158del)
NM_144997.7(FLCN):c.871+3_871+4delinsTCCAGAT rs2047088558
NM_144997.7(FLCN):c.932del (p.Pro311fs) rs1555608617

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