ClinVar Miner

List of variants in gene FLCN reported as pathogenic by Division of Respiratory Medicine of Juntendo University, Juntendo University Faculty of Medicine and Graduate School of Medicine

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Total variants: 85
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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.1579_1580insA (p.Arg527fs) rs753009073 0.00001
NM_144997.7(FLCN):c.779+1G>T rs758175953 0.00001
NC_000017.10:g.(?_17140226)_(17140502_?)del
NC_000017.11:g.(?_17213856)_(17212212_?)del
NC_000017.11:g.(?_17219209)_(17212212_?)del
NC_000017.11:g.(?_17224143)_(17219019_?)del
NC_000017.11:g.(?_17237168)_(17231794_?)del
NC_000017.11:g.(?_17237168)_(17236912_?)del
NM_144997.7(FLCN):c.1007_1010del (p.Gly336fs)
NM_144997.7(FLCN):c.1015C>T (p.Gln339Ter) rs2144894376
NM_144997.7(FLCN):c.1060C>T (p.Gln354Ter) rs398124523
NM_144997.7(FLCN):c.1062+1G>A rs1131690832
NM_144997.7(FLCN):c.1063-10_1065del
NM_144997.7(FLCN):c.1063-2A>G rs2144871276
NM_144997.7(FLCN):c.1126T>A (p.Trp376Arg)
NM_144997.7(FLCN):c.1153C>T (p.Gln385Ter) rs2144869206
NM_144997.7(FLCN):c.1177-5_1177-3del rs767671406
NM_144997.7(FLCN):c.119del (p.Gly40fs)
NM_144997.7(FLCN):c.1228G>T (p.Glu410Ter)
NM_144997.7(FLCN):c.1252del (p.Leu418fs) rs864622651
NM_144997.7(FLCN):c.1273C>T (p.Gln425Ter)
NM_144997.7(FLCN):c.1285del (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1285dup (p.His429fs) rs80338682
NM_144997.7(FLCN):c.1300+1G>A rs879255676
NM_144997.7(FLCN):c.1300+2T>C
NM_144997.7(FLCN):c.1301-2A>G rs1555607296
NM_144997.7(FLCN):c.1347_1353dup (p.Val452fs) rs2046880504
NM_144997.7(FLCN):c.1390G>T (p.Glu464Ter)
NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter) rs879255678
NM_144997.7(FLCN):c.1433-1G>T
NM_144997.7(FLCN):c.1490_1491del (p.Val497fs)
NM_144997.7(FLCN):c.1511_1512del (p.Leu504fs)
NM_144997.7(FLCN):c.1533G>A (p.Trp511Ter) rs398124530
NM_144997.7(FLCN):c.1533_1536del (p.Glu510_Trp511insTer) rs886037608
NM_144997.7(FLCN):c.1538+1G>T
NM_144997.7(FLCN):c.1553T>C (p.Leu518Pro)
NM_144997.7(FLCN):c.1556_1562del (p.Phe519fs)
NM_144997.7(FLCN):c.156dup (p.Gln53fs)
NM_144997.7(FLCN):c.1589dup (p.Asp531fs)
NM_144997.7(FLCN):c.1599_1600del (p.Lys534fs)
NM_144997.7(FLCN):c.1665_1666insTCAGAGGACAATGTCAAGCTGCTGAAGGTCT (p.Gly556fs)
NM_144997.7(FLCN):c.168_193del (p.Ser56fs)
NM_144997.7(FLCN):c.179dup (p.His61fs)
NM_144997.7(FLCN):c.185del (p.Ser62fs)
NM_144997.7(FLCN):c.199dup (p.Ala67fs)
NM_144997.7(FLCN):c.236C>A (p.Ser79Ter)
NM_144997.7(FLCN):c.318C>G (p.Tyr106Ter)
NM_144997.7(FLCN):c.31T>G (p.Cys11Gly) rs879255659
NM_144997.7(FLCN):c.328C>T (p.Gln110Ter)
NM_144997.7(FLCN):c.332_349del (p.His111_Gln116del)
NM_144997.7(FLCN):c.396+1G>A rs2145009900
NM_144997.7(FLCN):c.397-13_397-4del
NM_144997.7(FLCN):c.397-1G>C
NM_144997.7(FLCN):c.397-1G>T rs2144983515
NM_144997.7(FLCN):c.397-1_397delinsC
NM_144997.7(FLCN):c.397-2A>C
NM_144997.7(FLCN):c.397-7_399del
NM_144997.7(FLCN):c.404del (p.Pro135fs) rs886037609
NM_144997.7(FLCN):c.439C>T (p.Gln147Ter)
NM_144997.7(FLCN):c.466TTC[1] (p.Phe157del) rs786203218
NM_144997.7(FLCN):c.566_577delinsCC (p.Leu189fs)
NM_144997.7(FLCN):c.57_58del (p.Phe20fs) rs2145049426
NM_144997.7(FLCN):c.601C>T (p.Gln201Ter)
NM_144997.7(FLCN):c.605dup (p.Lys203fs)
NM_144997.7(FLCN):c.618+1G>A
NM_144997.7(FLCN):c.658C>T (p.Gln220Ter)
NM_144997.7(FLCN):c.65C>A (p.Thr22Lys)
NM_144997.7(FLCN):c.767CCT[1] (p.Ser257del)
NM_144997.7(FLCN):c.770_773del (p.Ser257fs)
NM_144997.7(FLCN):c.780-2A>G rs1555609514
NM_144997.7(FLCN):c.838_839delinsTTGGTC (p.Glu280fs)
NM_144997.7(FLCN):c.853C>T (p.Gln285Ter) rs879255667
NM_144997.7(FLCN):c.859G>T (p.Glu287Ter)
NM_144997.7(FLCN):c.887C>A (p.Ser296Ter)
NM_144997.7(FLCN):c.889_890del (p.Glu297fs) rs1597592246
NM_144997.7(FLCN):c.906dup (p.Glu303Ter)
NM_144997.7(FLCN):c.907G>T (p.Glu303Ter)
NM_144997.7(FLCN):c.922G>T (p.Glu308Ter)
NM_144997.7(FLCN):c.922del (p.Glu308fs)
NM_144997.7(FLCN):c.932_933del (p.Pro311fs) rs1555608614
NM_144997.7(FLCN):c.946_947del (p.Ser316fs) rs1597591875
NM_144997.7(FLCN):c.989_990dup (p.Ser331fs)
NM_144997.7(FLCN):c.997_998del (p.Ser333fs) rs1555608515
NM_144997.7(FLCN):c.998C>G (p.Ser333Ter)

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