ClinVar Miner

List of variants in gene FLCN reported as likely pathogenic

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Total variants: 41
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HGVS dbSNP
GRCh37/hg19 17p11.2(chr17:17117620-17118776)x1
NC_000017.11:g.(?_17223916)_(17224149_?)del
NM_144997.7(FLCN):c.1176+1G>T rs1555607929
NM_144997.7(FLCN):c.1176+2T>A
NM_144997.7(FLCN):c.1177-5_1177-3del rs767671406
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.1300+1G>A rs879255676
NM_144997.7(FLCN):c.1301-1G>C
NM_144997.7(FLCN):c.1301-2A>G rs1555607296
NM_144997.7(FLCN):c.1432+1G>A rs755959303
NM_144997.7(FLCN):c.1432+2T>C rs1567807517
NM_144997.7(FLCN):c.1433-2A>C
NM_144997.7(FLCN):c.1433-2A>G rs398124528
NM_144997.7(FLCN):c.1474_1475delinsG (p.Asn492fs) rs1597578868
NM_144997.7(FLCN):c.1498del (p.Val500fs) rs1597578776
NM_144997.7(FLCN):c.1522_1524del (p.Lys508del) rs398124529
NM_144997.7(FLCN):c.1525GAG[1] (p.Glu510del) rs879255681
NM_144997.7(FLCN):c.1538+1G>A
NM_144997.7(FLCN):c.1539-2A>G rs878855214
NM_144997.7(FLCN):c.1549del (p.Val517fs) rs1597574368
NM_144997.7(FLCN):c.1578_1599del (p.Ser526fs) rs1057518043
NM_144997.7(FLCN):c.1579C>T (p.Arg527Ter) rs879255683
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.1658G>A (p.Trp553Ter) rs879255684
NM_144997.7(FLCN):c.1716del (p.Thr573fs)
NM_144997.7(FLCN):c.249+1G>T rs1060502369
NM_144997.7(FLCN):c.249+5G>A rs1064793127
NM_144997.7(FLCN):c.33C>G (p.Cys11Trp)
NM_144997.7(FLCN):c.446del (p.Gly149fs) rs727504645
NM_144997.7(FLCN):c.466TTC[1] (p.Phe157del) rs786203218
NM_144997.7(FLCN):c.553T>C (p.Ser185Pro) rs876657646
NM_144997.7(FLCN):c.779+1G>T rs758175953
NM_144997.7(FLCN):c.780-1G>C rs878855218
NM_144997.7(FLCN):c.780-1G>T rs878855218
NM_144997.7(FLCN):c.792del (p.Cys265fs) rs1567816339
NM_144997.7(FLCN):c.872-1G>T rs1567813248
NM_144997.7(FLCN):c.91C>T (p.Gln31Ter) rs1597618162
NM_144997.7(FLCN):c.932del (p.Pro311fs) rs1555608617

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