ClinVar Miner

List of variants in gene FLCN reported as likely pathogenic for not provided

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_144997.7(FLCN):c.1522_1524del (p.Lys508del) rs398124529 0.00001
NM_144997.7(FLCN):c.249+5G>A rs1064793127 0.00001
NM_144997.7(FLCN):c.1093_1113del (p.Ala365_Gly371del) rs2144870247
NM_144997.7(FLCN):c.1150_1160del (p.Val384fs)
NM_144997.7(FLCN):c.1176+2T>A rs2046947920
NM_144997.7(FLCN):c.1232_1233dup (p.Ala412fs)
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.1432+1G>A rs755959303
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.1597C>T (p.Gln533Ter) rs398124532
NM_144997.7(FLCN):c.1657T>C (p.Trp553Arg) rs1131690833
NM_144997.7(FLCN):c.1716del (p.Thr573fs) rs2046815679
NM_144997.7(FLCN):c.189del (p.Ala64fs) rs876660611
NM_144997.7(FLCN):c.33C>G (p.Cys11Trp) rs754616167
NM_144997.7(FLCN):c.396+1G>A rs2145009900
NM_144997.7(FLCN):c.470TCA[1] (p.Ile158del)
NM_144997.7(FLCN):c.521_527del (p.Thr174fs) rs1085307478
NM_144997.7(FLCN):c.618+1G>A
NM_144997.7(FLCN):c.753G>A (p.Trp251Ter)
NM_144997.7(FLCN):c.871+3_871+4delinsTCCAGAT rs2047088558
NM_144997.7(FLCN):c.932del (p.Pro311fs) rs1555608617

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